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Loss of HeterozygosityHeterozygoteMicrosatellite RepeatsAllelesGenes, Tumor SuppressorGenetic MarkersChromosomes, Human, Pair 17Chromosome DeletionChromosomes, Human, Pair 3DNA, NeoplasmChromosome MappingChromosomes, Human, Pair 9Chromosomes, Human, Pair 11MutationGenetic VariationChromosomes, Human, Pair 1Polymerase Chain ReactionPolymorphism, GeneticHeterozygote DetectionHomozygoteGene DeletionInbreedingChromosomes, Human, Pair 10Genetics, PopulationPolymorphism, Single-Stranded ConformationalGenotypeChromosomes, Human, Pair 13Chromosomes, Human, Pair 16DNA Mutational AnalysisPolymorphism, Restriction Fragment LengthGenes, DCCDNA, SatelliteGene FrequencyPedigreeGenes, p53Base SequenceTumor Suppressor ProteinsMolecular Sequence DataChromosomes, Human, Pair 6Chromosomes, Human, Pair 18Genetic LociGerm-Line MutationModels, GeneticChromosomes, Human, Pair 22Chromosomes, Human, Pair 5Polymorphism, Single NucleotideHybrid VigorGenes, MCCChromosome AberrationsChromosomes, Human, Pair 19ExonsChromosomes, Human, Pair 8PhenotypeAcid Anhydride HydrolasesUniparental DisomyGene DosageGenetic LinkageDNA PrimersChromosomes, Human, Pair 7Genes, RetinoblastomaAllelic ImbalanceEndangered SpeciesWilms TumorPoint MutationSequence DeletionGenes, Neurofibromatosis 1Sequence Analysis, DNACrosses, GeneticAdenocarcinomaBreast NeoplasmsRecombination, GeneticIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 4DNA MethylationGenes, APCCarcinoma, Squamous CellHaplotypesGenes, p16Genetic Predisposition to DiseaseChromosomes, HumanChromosomal InstabilityDiploidySelection, GeneticNeoplasm ProteinsTumor Suppressor Protein p53BreedingBlotting, SouthernMicrodissectionElectrophoresis, Starch GelOvarian NeoplasmsMicrosatellite InstabilityKidney NeoplasmsFrameshift MutationCyclin-Dependent Kinase Inhibitor p16OligodendrogliomaGene Expression Regulation, NeoplasticGenome, HumanMutation, MissenseAdenine PhosphoribosyltransferaseColorectal Neoplasms
Loss of Heterozygosity
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Heterozygote
An individual having different alleles at one or more loci regarding a specific character.
Microsatellite Repeats
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Alleles
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Genes, Tumor Suppressor
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Genetic Markers
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Chromosomes, Human, Pair 17
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Chromosome Deletion
Actual loss of portion of a chromosome.
Chromosomes, Human, Pair 3
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
DNA, Neoplasm
DNA present in neoplastic tissue.
Chromosome Mapping
Any method used for determining the location of and relative distances between genes on a chromosome.
Chromosomes, Human, Pair 9
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
Chromosomes, Human, Pair 11
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Genetic Variation
Genotypic differences observed among individuals in a population.
Chromosomes, Human, Pair 1
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Heterozygote Detection
Identification of genetic carriers for a given trait.
Homozygote
An individual in which both alleles at a given locus are identical.
Gene Deletion
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Inbreeding
The mating of plants or non-human animals which are closely related genetically.
Chromosomes, Human, Pair 10
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Genetics, Population
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Polymorphism, Single-Stranded Conformational
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Genotype
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Chromosomes, Human, Pair 13
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Chromosomes, Human, Pair 16
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
DNA Mutational Analysis
Biochemical identification of mutational changes in a nucleotide sequence.
Polymorphism, Restriction Fragment Length
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Genes, DCC
Tumor suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colorectal cancer (DCC stands for deleted in colorectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins.
DNA, Satellite
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Gene Frequency
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Genes, p53
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
Base Sequence
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Tumor Suppressor Proteins
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Chromosomes, Human, Pair 6
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Chromosomes, Human, Pair 18
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Germ-Line Mutation
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Models, Genetic
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
Chromosomes, Human, Pair 22
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Chromosomes, Human, Pair 5
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Polymorphism, Single Nucleotide
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Hybrid Vigor
The adaptive superiority of the heterozygous GENOTYPE with respect to one or more characters in comparison with the corresponding HOMOZYGOTE.
Genes, MCC
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).
Chromosome Aberrations
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Chromosomes, Human, Pair 19
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Exons
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Chromosomes, Human, Pair 8
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Acid Anhydride Hydrolases
A group of enzymes that catalyze the hydrolysis of diphosphate bonds in compounds such as nucleoside di- and tri-phosphates, and sulfonyl-containing anhydrides such as adenylylsulfate. (Enzyme Nomenclature, 1992) EC 3.6.
Uniparental Disomy
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Genetic Linkage
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
DNA Primers
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Chromosomes, Human, Pair 7
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Genes, Retinoblastoma
Tumor suppressor genes located on human chromosome 13 in the region 13q14 and coding for a family of phosphoproteins with molecular weights ranging from 104 kDa to 115 kDa. One copy of the wild-type Rb gene is necessary for normal retinal development. Loss or inactivation of both alleles at this locus results in retinoblastoma.
Allelic Imbalance
A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
Endangered Species
An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.
Wilms Tumor
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Point Mutation
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Sequence Deletion
Deletion of sequences of nucleic acids from the genetic material of an individual.
Genes, Neurofibromatosis 1
Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.
Sequence Analysis, DNA
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Crosses, Genetic
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Adenocarcinoma
A malignant epithelial tumor with a glandular organization.
Breast Neoplasms
Tumors or cancer of the human BREAST.
Recombination, Genetic
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
In Situ Hybridization, Fluorescence
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Chromosomes, Human, Pair 4
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
DNA Methylation
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Genes, APC
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
Carcinoma, Squamous Cell
A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
Haplotypes
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Genes, p16
Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.
Genetic Predisposition to Disease
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Chromosomes, Human
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Chromosomal Instability
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
Diploidy
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Selection, Genetic
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
Neoplasm Proteins
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Tumor Suppressor Protein p53
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
Breeding
The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.
Blotting, Southern
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
Microdissection
The performance of dissections with the aid of a microscope.
Electrophoresis, Starch Gel
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
Ovarian Neoplasms
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Microsatellite Instability
The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
Kidney Neoplasms
Tumors or cancers of the KIDNEY.
Frameshift Mutation
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Cyclin-Dependent Kinase Inhibitor p16
A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.
Oligodendroglioma
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)
Gene Expression Regulation, Neoplastic
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Genome, Human
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Mutation, Missense
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Adenine Phosphoribosyltransferase
An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.
Colorectal Neoplasms
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Gene Amplification
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
PTEN Phosphohydrolase
A lipid phosphatase that acts on phosphatidylinositol-3,4,5-trisphosphate to regulate various SIGNAL TRANSDUCTION PATHWAYS. It modulates CELL GROWTH PROCESSES; CELL MIGRATION; and APOPTOSIS. Mutations in PTEN are associated with COWDEN DISEASE and PROTEUS SYNDROME as well as NEOPLASTIC CELL TRANSFORMATION.
Aneuploidy
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
DNA
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Karyotyping
Mapping of the KARYOTYPE of a cell.
Neurofibromatosis 1
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Genomic Instability
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Immunohistochemistry
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
DNA, Plant
Deoxyribonucleic acid that makes up the genetic material of plants.
Astrocytoma
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Carcinoma
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)
Linkage Disequilibrium
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Strongylida
An order of nematodes of the subclass SECERNENTEA. Characteristics include an H-shaped excretory system with two subventral glands.
Chromosomes, Human, Pair 12
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Precancerous Conditions
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
Lung Neoplasms
Tumors or cancer of the LUNG.
Genetic Testing
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Crossing Over, Genetic
The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
Esophageal Neoplasms
Tumors or cancer of the ESOPHAGUS.
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
Exostoses, Multiple Hereditary
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
Adenoma
A benign epithelial tumor with a glandular organization.
HLA-DRB5 Chains
A subtype of HLA-DRB beta chains that is associated with the HLA-DR51 serological subtype.
DNA Probes
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
HLA-DRB3 Chains
A subtype of HLA-DRB beta chains that includes over 50 allelic variants. The HLA-DRB3 beta-chain subtype is associated with HLA-DR52 serological subtype.
Meningioma
A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)
Brain Neoplasms
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
HLA-DRB4 Chains
A subtype of HLA-DRB beta chains that is associated with the HLA-DR53 serological subtype.
Haploinsufficiency
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
Genes, ras
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
Haploidy
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
DNA Copy Number Variations
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Carcinoma, Ductal, Breast
An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.
Oligonucleotide Array Sequence Analysis
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Proteins
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
BRCA2 Protein
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Disease Progression
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Species Specificity
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
DNA-Binding Proteins
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Phosphoric Monoester Hydrolases
A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. EC 3.1.3.
Chromosomes, Human, Pair 14
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Wolves
Any of several large carnivorous mammals of the family CANIDAE that usually hunt in packs.
Tumor Cells, Cultured
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Multiple Endocrine Neoplasia Type 1
A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).
Genes, BRCA1
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
Neoplasm Staging
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
Reverse Transcriptase Polymerase Chain Reaction
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Geography
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
Peutz-Jeghers Syndrome
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Codon, Nonsense
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Genes, Dominant
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Codon
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Jews
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Cystadenocarcinoma, Papillary
An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.
Cell Transformation, Neoplastic
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Gene Silencing
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
Genetic Drift
The fluctuation of the ALLELE FREQUENCY from one generation to the next.
Genes, Wilms Tumor
Genes at loci that are involved in the development of WILMS TUMOR. Included are human WT1 at 11p13 and human WT2 (MTACR1) at 11p15.
Sheep, Domestic
A species of sheep, Ovis aries, descended from Near Eastern wild forms, especially mouflon.
Genes, Neurofibromatosis 2
Tumor suppressor genes located on the long arm of human chromosome 22. Mutation or loss of these genes causes NEUROFIBROMATOSIS 2.
Nuclear Proteins
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
Dinucleotide Repeats
The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.
Phylogeny
The relationships of groups of organisms as reflected by their genetic makeup.
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Adenocarcinoma, Clear Cell
An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)
Phenolphthalein
An acid-base indicator which is colorless in acid solution, but turns pink to red as the solution becomes alkaline. It is used medicinally as a cathartic.
Reproduction
The total process by which organisms produce offspring. (Stedman, 25th ed)
Glioma
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)
Chromosomes
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
X Chromosome
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Bivalvia
A class in the phylum MOLLUSCA comprised of mussels; clams; OYSTERS; COCKLES; and SCALLOPS. They are characterized by a bilaterally symmetrical hinged shell and a muscular foot used for burrowing and anchoring.
Chromosome Disorders
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Genome
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Meningeal Neoplasms
Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.
Skin Neoplasms
Tumors or cancer of the SKIN.
Prognosis
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
Barrett Esophagus
A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.
Tuberous Sclerosis
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Chromosomes, Fungal
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
Stomach Neoplasms
Tumors or cancer of the STOMACH.
Ploidies
The degree of replication of the chromosome set in the karyotype.
Carcinoma in Situ
A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane.
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Chromosome Fragility
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Population Density
Number of individuals in a population relative to space.
Li-Fraumeni Syndrome
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Gene Conversion
The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.
Paternity
Establishing the father relationship of a man and a child.
Mouth Neoplasms
Tumors or cancer of the MOUTH.
Expressed Sequence Tags
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
Hybridization, Genetic
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
Leukemia L5178
An experimental lymphocytic leukemia of mice.
Head and Neck Neoplasms
Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
Amplified Fragment Length Polymorphism Analysis
The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.
Chromosomes, Human, X
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Carcinoma, Renal Cell
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
Cyclin-Dependent Kinase Inhibitor p15
An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.
MutS Homolog 2 Protein
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
Hemoglobins, Abnormal
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
Chromosomes, Human, Pair 2
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Genotyping Techniques
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
Mice, Knockout
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (1/2687)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Level of retinoblastoma protein expression correlates with p16 (MTS-1/INK4A/CDKN2) status in bladder cancer. (2/2687)

Recent studies have shown that patients whose bladder cancer exhibit overexpression of RB protein as measured by immunohistochemical analysis do equally poorly as those with loss of RB function. We hypothesized that loss of p16 protein function could be related to RB overexpression, since p16 can induce transcriptional downregulation of RB and its loss may lead to aberrant RB regulation. Conversely, loss of RB function has been associated with high p16 protein expression in several other tumor types. In the present study RB negative bladder tumors also exhibited strong nuclear p16 staining while each tumor with strong, homogeneous RB nuclear staining were p16 negative, supporting our hypothesis. To expand on these immunohistochemical studies additional cases were selected in which the status of the p16 encoding gene had been determined at the molecular level. Absent p16 and high RB protein expression was found in the tumors having loss of heterozygosity within 9p21 and a structural change (mutation or deletion) of the remaining p16 encoding gene allele, confirming the staining results. These results strongly support the hypothesis that the RB nuclear overexpression recently associated with poor prognosis in bladder cancer is also associated with loss of p16 function and implies that loss of p16 function could be equally deleterious as RB loss in bladder and likely other cancers.  (+info)

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/2687)

Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (4/2687)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas. (5/2687)

Expression of CDX2, a caudal-related homeobox gene, was found to be decreased in colorectal carcinomas. Heterozygous null mutant mice as to Cdx2 develop multiple intestinal adenomatous polyps. To clarify the role of CDX2 in colorectal carcinogenesis, we determined its genomic structure, and searched for mutations of CDX2 in 49 sporadic colorectal carcinomas and ten hereditary non-polyposis colorectal cancers (HNPCC) without microsatellite instability. None of them exhibited a mutation. We further examined 19 HNPCC carcinomas with microsatellite instability for mutations in a (G)7 repeat site within CDX2. One of them (5.3%) exhibited one G insertion. Loss of heterozygosity was observed in 2 of the 20 (10%) informative sporadic carcinomas, and in one of the three (33.3%) informative HNPCC cancers. These data indicate that CDX2 may play only a minor role in colorectal carcinogenesis.  (+info)

Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers. (6/2687)

Carcinoma of the uterine cervix is a common malignancy among women that has been found to show loss of heterozygosity in the chromosome 11p. Recent studies have localized the TSG101 gene in this region, and also demonstrated a high frequency of abnormalities of this gene in human breast cancer. To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products. We found that abnormal transcripts of the TSG101 gene were common both in cancerous or non-cancerous tissues of the uterus and cervix and in normal peripheral mononuclear cells. There was no genomic deletion or rearrangement in spite of the presence of abnormal transcripts, and no definite relationship between the abnormal transcripts and HPV infection was found. Although the frequency of abnormal transcripts was higher in cancerous than in non-cancerous tissue, normal peripheral mononuclear cells also had abnormal transcripts. Given these findings, the role of the TSG101 gene as a tumour-suppressor gene should be re-evaluated. Because some aberrant transcripts could be found at the first PCR reaction, we suggest that the aberrant transcripts might be the result of imperfect minor splicesome products.  (+info)

Loss of heterozygosity (LOH), malignancy grade and clonality in microdissected prostate cancer. (7/2687)

The aim of the present study was to find out whether increasing malignancy of prostate carcinoma correlates with an overall increase of loss of heterozygosity (LOH), and whether LOH typing of microdissected tumour areas can help to distinguish between multifocal or clonal tumour development. In 47 carcinomas analysed at 25 chromosomal loci, the overall LOH rate was found to be significantly lower in grade 1 areas (2.2%) compared with grade 2 (9.4%) and grade 3 areas (8.3%, P = 0.007). A similar tendency was found for the mean fractional allele loss (FAL, 0.043 for grade 1, 0.2 for grade 2 and 0.23 for grade 3, P = 0.0004). Of 20 tumours (65%) with LOH in several microdissected areas, 13 had identical losses at 1-4 loci within two or three areas, suggesting clonal development of these areas. Markers near RB, DCC, BBC1, TP53 and at D13S325 (13q21-22) showed higher loss rates in grades 2 and 3 (between 25% and 44.4%) compared with grade 1 (0-6.6%). Tumour-suppressor genes (TSGs) near these loci might, thus, be important for tumour progression. TP53 mutations were detected in 27%, but BBC1 mutations in only 7%, of samples with LOH. Evaluation of all 25 loci in every tumour made evident that each prostate cancer has its own pattern of allelic losses.  (+info)

Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms. (8/2687)

Endocrine pancreatic tumors (EPT) and neuroendocrine tumors (NET) occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types. Allelic deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors (13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the MEN1 gene were present in 8/52 (15.3%) tumors (4/30 (13.3%) EPT and 4/22 (18.1%) NET). The somatic mutations were clustered in the 5' region of the coding sequence and most frequently encompassed missense mutations. All tumors with mutations exhibited a loss of the other allele and a wild-type sequence of the MEN1 gene in nontumorous DNA. In one additional patient with a NET of the lung and no clinical signs or history of MEN1, a 5178-9G-->A splice donor site mutation in intron 4 was identified in both the tumor and blood DNA, indicating the presence of a thus far unknown MEN1 syndrome. In most tumor groups the frequency of allelic deletions at 11q13 was 2 to 3 times higher than the frequency of identified MEN1 gene mutations. Some tumor types, including rare forms of EPT and NET of the duodenum and small intestine, exhibited mutations more frequently than other types. Furthermore, somatic mutations were not restricted to foregut tumors but were also detectable in a midgut tumor (15.2% versus 16.6%). Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors. Because the frequency of mutations varies significantly among the investigated tumor subgroups and allelic deletions are 2 to 3 times more frequently observed, factors other than MEN1 gene inactivation, including other tumor-suppressor genes on 11q13, may also be involved in the tumorigenesis of these neoplasms.  (+info)

STATISTICAL STUDIES ON PROTEIN POLYMORPHISM IN NATURAL POPULATIONS I. DISTRIBUTION OF SINGLE LOCUS HETEROZYGOSITY | GeneticsSTATISTICAL STUDIES ON PROTEIN POLYMORPHISM IN NATURAL POPULATIONS I. DISTRIBUTION OF SINGLE LOCUS HETEROZYGOSITY | Genetics
Surveying the literature, the frequency distribution of single-locus heterozygosity among protein loci was examined in 95 vertebrate and 34 invertebrate species with the aim of testing the validity of the mutation-drift hypothesis. This distribution did not differ significantly from that expected under the mutation-drift hypothesis for any of the species examined when tested by the Kolmogorov-Smirnov goodness-of-fit statistic. The agreement between the observed interlocus variance of heterozygosity and its theoretical expectation was also satisfactory. There was an indication that variation in the mutation rate among loci inflates the interlocus variance of heterozygosity. The variance of heterozygosity for a homologous locus among different species was also studied. This variance generally agreed with the theoretical value very well, though in some groups of Drosophila species there was a significant discrepancy. The observed relationship between average heterozygosity and the proportion of ...
http://www.genetics.org/content/86/2/455
Plus itPlus it
In the current study we investigated the LOH incidence at 8 microsatellite markers mapping to known tumor suppressor genes in the plasma of breast cancer patients. For our retrospective study, we chose a patient cohort that was randomly selected from the SUCCESS study (19). Therefore, we cannot exclude that this patient selection may have introduced a bias, which is a common limitation for all translational cohort studies frequently conducted as part of larger clinical trials. Our findings showed numerous significant correlations between clinicopathologic risk factors of the patients and the LOH-positive markers D3S1605, D10S1765, D12S1725, D13S218, and D17S855. The high LOH frequencies detected at these markers were associated with more aggressive carcinomas, and in particular, LOH at D12S1725 mapping to the cyclin D2 gene was associated with reduced survival of the breast cancer patients.. Furthermore, our extended DNA extraction of the flow-through derived from QIAamp mini columns showed ...
http://clincancerres.aacrjournals.org/content/18/20/5719
William Lane Craig, Mouflon Sheep, and Heterozygosity (Part 2)William Lane Craig, Mouflon Sheep, and Heterozygosity (Part 2)
Suppose the cee location is under selection for heterozygosity. What this means is that animals that have both the C and c alleles will leave more progeny in the next generation than animals that are CC or cc (i.e. homozygous). In the absence of crossing over, however - and remember, crossing over in any given location is an infrequent event - selection for a Cc animal will at the same time select for animals that are heterozygous at the other three nearby locations. In this way, these other locations are also selected for heterozygosity, even though the real selection is acting only at the cee location. The other locations are merely hitchhiking because they are physically connected to the alleles under selection. In a small population over a short timeframe (tens of generations) this effect can be quite pronounced. All it takes is a few locations in the genome to be under selection for heterozygosity, and large swaths of the genome will hitchhike along. This means that a large ...
https://biologos.org/blogs/dennis-venema-letters-to-the-duchess/william-lane-craig-mouflon-sheep-and-heterozygosity-part-2
HIGH-THROUGHPUT TUMOR GENOMIC PROFILING BY MASSIVELY PARALLEL SEQUENCING | Innovative Molecular Analysis Technologies (IMAT)HIGH-THROUGHPUT TUMOR GENOMIC PROFILING BY MASSIVELY PARALLEL SEQUENCING | Innovative Molecular Analysis Technologies (IMAT)
Cancer diagnosis and treatment decisions have historically been based on anatomic sites of origin and spread; however, the emerging paradigm incorporates key genetic attributes of a given tumor to predict clinical behavior and specify the optimal use of targeted therapeutics. Ultimately, the delivery of personalized cancer medicine will require systematic characterization of all therapeutically informative tumor genomic alterations in the clinical and translational arena. Previously, we developed and deployed OncoMap, a mass spectrometric genotyping-based platform that enables high-throughput profiling of hundreds of known mutations across dozens of cancer genes. This platform performs well and has launched a robust translational oncology effort. However, the mass spectrometric genotyping technology remains limited in scope, assay sensitivity, and the type of genomic alteration that can be identified. Recently, it has become possible to render multi-faceted tumor characterization both ...
https://imat.cancer.gov/about-imat/grants-awarded/2011/high-throughput-tumor-genomic-profiling-massively-parallel-sequencing
Background Great frequency of lack of heterozygosity (LOH) was bought at | Selective Sirt2 inhibition by ligand-induced...Background Great frequency of lack of heterozygosity (LOH) was bought at | Selective Sirt2 inhibition by ligand-induced...
Background Great frequency of lack of heterozygosity (LOH) was bought at D7S486 in principal gastric cancers (GC). proliferation of GC cell lines. Methylation and Mutation evaluation Vorinostat were performed to explore possible systems of TES inactivation in GC. Results LOH evaluation discovered five applicant genes (ST7 FOXP2 MDFIC TES and CAV1) whose frequencies of LOH had been greater than 30%. Nevertheless just TES demonstrated the potential to be always a TSG connected with GC. Among 140 pairs of GC examples reduced TES mRNA level was within 96 (68.6%) tumor tissue in comparison to matched non-tumor tissue (p < 0.001). Also decreased TES proteins level was discovered in 36 (72.0%) of most 50 tumor tissue by Western blot (p = 0.001). Furthermore immunohistochemical staining result is at contract with this of American and RT-PCR blot. Down legislation of TES was been Dll4 shown to be correlated with tumor differentiation Vorinostat (p = 0.035) and prognosis (p = 0.035 log-rank test). Its ...
http://themodernsolution.com/background-great-frequency-of-lack-of-heterozygosity-loh-was-bought-at/
Plus itPlus it
Once melanoma has metastasized, overall prognosis is generally poor. Methods to more accurately assess this risk include histopathological evaluation of the primary tumor and draining lymph nodes along with serial radiographic imaging studies to survey for distant metastasis. Although these techniques have permitted a more accurate appraisal of tumor biology by precisely staging patients, it is not uncommon for the same-stage patients to have differing disease courses. Improved methods are needed to identify those same stage patients who may benefit from a more aggressive treatment approach. Assessment of tumor DNA may provide more accurate insight into tumor progression and, thus, allow for the identification of molecular surrogates that precede and predict clinical events (26) .. We and others have shown that as melanomas progress they acquire additional LOH events, which may be associated with a metastatic or more aggressive phenotype (5 , 6 , 10 , 13 , 14 , 24) . Therefore, identifying those ...
http://cancerres.aacrjournals.org/content/61/15/5723
LOH11CR2A Pre-design Chimera RNAi - (H00004013-R02) - Products - Abnova
Homo sapiens loss of heterozygosity, 11, chromosomal region 2, gene A (LOH11CR2A), transcript variant 2, mRNA. (H00004013-R02) - Products - Abnova
http://www.abnova.com/products/products_detail.asp?catalog_id=H00004013-R02
Laboratory - FAL Duiven B.V.Laboratory - FAL Duiven B.V.
Farmaceutisch Analytisch Laboratorium Duiven B.V. (FAL Duiven) was founded in 1982, as a privately owned company and moved to the present purpose built premises in 1997.
https://www.falduiven.com/laboratory
NDST4 Is a Novel Candidate Tumor Suppressor Gene at Chromosome 4q26 and Its Genetic Loss Predicts Adverse Prognosis in...NDST4 Is a Novel Candidate Tumor Suppressor Gene at Chromosome 4q26 and Its Genetic Loss Predicts Adverse Prognosis in...
Background Genomic deletion at tumor suppressor loci is a common genetic aberration in human cancers. The study aimed to explore candidate tumor suppressor genes at chromosome 4q25-q28.2 and to delineate novel prognostic biomarkers associated with colorectal cancer (CRC). Methods Deletion mapping of chromosome 4q25-q28.2 was conducted in 114 sporadic CRC by loss of heterozygosity study with 11 microsatellite markers. A novel candidate tumor suppressor gene, namely NDST4, was identified at 4q26. Gene expression of NDST4 was investigated in 52 pairs of primary CRC tissues by quantitative reverse transcription-polymerase chain reaction. Allelic loss of NDST4 gene was further determined in 174 colorectal carcinomas by loss of heterozygosity analysis, and then was assessed for clinical relevance. Results One minimal deletion region was delineated between D4S2297 and D4S2303 loci at 4q26, where NDST4 was the only gene that had markedly been downregulated in CRC tumors. By laser capture microdissection,
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067040
Transcription facilitates sister chromatid cohesion on chromosomal arms. - Oxford Neuroscience
Cohesin is a multi-subunit protein complex essential for sister chromatid cohesion, gene expression and DNA damage repair. Although structurally well studied, the underlying determinant of cohesion establishment on chromosomal arms remains enigmatic. Here, we show two populations of functionally distinct cohesin on chromosomal arms using a combination of genomics and single-locus specific DNA-FISH analysis. Chromatin bound cohesin at the loading sites co-localizes with Pds5 and Eso1 resulting in stable cohesion. In contrast, cohesin independent of its loader is unable to maintain cohesion and associates with chromatin in a dynamic manner. Cohesive sites coincide with highly expressed genes and transcription inhibition leads to destabilization of cohesin on chromatin. Furthermore, induction of transcription results in de novo recruitment of cohesive cohesin. Our data suggest that transcription facilitates cohesin loading onto chromosomal arms and is a key determinant of cohesive sites in fission yeast.
https://www.neuroscience.ox.ac.uk/publications/616696
DPC4, A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1 | ScienceDPC4, A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1 | Science
About 90 percent of human pancreatic carcinomas show allelic loss at chromosome 18q. To identify candidate tumor suppressor genes on 18q, a panel of pancreatic carcinomas were analyzed for convergent sites of homozygous deletion. Twenty-five of 84 tumors had homozygous deletions at 18q21.1, a site that excludes DCC (a candidate suppressor gene for colorectal cancer) and includes DPC4, a gene similar in sequence to a Drosophila melanogaster gene (Mad) implicated in a transforming growth factor-β (TGF-β)-like signaling pathway. Potentially inactivating mutations in DPC4 were identified in six of 27 pancreatic carcinomas that did not have homozygous deletions at 18q21.1. These results identify DPC4 as a candidate tumor suppressor gene whose inactivation may play a role in pancreatic and possibly other human cancers.. ...
https://science.sciencemag.org/content/271/5247/350?ijkey=cb50f8a93fa3dfffffe360166afa590fb69ff29b&keytype2=tf_ipsecsha
Heterozygosity at a single locus explains a large proportion of variation in two fitness-related traits in great tits: a...Heterozygosity at a single locus explains a large proportion of variation in two fitness-related traits in great tits: a...
In natural populations, mating between relatives can have important fitness consequences due to the negative effects of reduced heterozygosity. Parental level of inbreeding or heterozygosity has been also found to influence the performance of offspring, via direct and indirect parental effects that are independent of the progeny own level of genetic diversity. In this study, we first analysed the effects of parental heterozygosity and relatedness (i.e. an estimate of offspring genetic diversity) on four traits related to offspring viability in great tits (Parus major) using 15 microsatellite markers. Second, we tested whether significant heterozygosity-fitness correlations (HFCs) were due to local (i.e. linkage to genes influencing fitness) and/or general (genome-wide heterozygosity) effects. We found a significant negative relationship between parental genetic relatedness and hatching success, and maternal heterozygosity was positively associated with offspring body size. The ...
http://www.zora.uzh.ch/id/eprint/104350/
Reduced heterozygosity impairs sperm quality in endangered mammals | Biology LettersReduced heterozygosity impairs sperm quality in endangered mammals | Biology Letters
Our results demonstrate that extensive inbreeding leads to depressed sperm quality. However, while the negative relationship between species heterozygosity and sperm quality was evident when all species were examined, it is clear that this pattern was generated by the endangered species in the dataset. When we confined our analysis to endangered species, criteria that arguably most closely meet the conditions where heterozygosity reflects inbreeding (e.g. Slate et al. 2004; Aparicio et al. 2007; Grueber et al. 2008), more homozygous species had reduced sperm quality. There was no association between sperm quality and heterozygosity in non-endangered species. Thus, our results support the previously reported link between heterozygosity and sperm quality in European rabbits (Oryctolagus cuniculus; Gage et al. 2006) while bolstering the argument that estimates of heterozygosity may not accurately reflect the level of inbreeding unless certain restrictive conditions are met (Balloux et al. 2004; ...
http://rsbl.royalsocietypublishing.org/content/early/2009/02/27/rsbl.2008.0734
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A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
http://cancerres.aacrjournals.org/content/56/9/2143
Lung Cancer: Novel Tumour Suppressor Genes on Chromosome 9p - Cancer Council VictoriaLung Cancer: Novel Tumour Suppressor Genes on Chromosome 9p - Cancer Council Victoria
Intimacy counselling. Find out more about our free, confidential counselling with medical specialists trained in intimacy, body image, sexual confidence and relationships. Available to all those facing cancer and their partners, including members of the LGBTQI community. ...
http://www.cancervic.org.au/research/projects/project_investigation_of_novel.html
Detection of frequent allelic loss of 6q23-q25.2 in microdissected human breast cancer tissues. - PubMed - NCBIDetection of frequent allelic loss of 6q23-q25.2 in microdissected human breast cancer tissues. - PubMed - NCBI
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
https://www.ncbi.nlm.nih.gov/pubmed/9162195?dopt=Abstract
Chromosome arm 16q in Wilms tumors: unbalanced chromosomal translocations, loss of heterozygosity, and assessment of the CTCF...Chromosome arm 16q in Wilms tumors: unbalanced chromosomal translocations, loss of heterozygosity, and assessment of the CTCF...
Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of 16q LOH are not known, but the CTCF gene, in band 16q22, is a candidate target gene. CTCF protein binds to DNA upstream of the H19 gene on chromosome band 11p15, and maintains …
https://pubmed.ncbi.nlm.nih.gov/12203779/?dopt=Abstract
Molecular damage in the bronchial epithelium of current and former smokers
LOH and microsatellite alterations were observed in biopsy specimens from both current and former smokers, but no statistically significant differences were observed between the two groups. Among individuals with a history of smoking, 86% demonstrated LOH in one or more biopsy specimens, and 24% showed LOH in all biopsy specimens. About half of the histologically normal specimens from smokers showed LOH, but the frequency of LOH and the severity of histologic change did not correspond until the carcinoma in situ stage. A subset of biopsy specimens from smokers that exhibited either normal or preneoplastic histology showed LOH at multiple chromosomal sites, a phenomenon frequently observed in carcinoma in situ and invasive cancer. LOH on chromosomes 3p and 9p was more frequent than LOH on chromosomes 5q, 17p (17p13; TP53 gene), and 13q (13q14; retinoblastoma gene). Microsatellite alterations were detected in 64% of the smokers. No genetic alterations were detected in nonsmokers. Conclusions: ...
http://www.meb.uni-bonn.de/cgi-bin/mycite?ExtRef=MEDL/97452293/PMID/9308707
1p/19q-Status - Zentrum für Neuropathologie und Prionforschung - LMU München
Methode. Die Untersuchung des 1p/19q-Status wird mittels Mikrosatelliten-PCR-basiertem Nachweis von Allelverlusten (loss of heterozygosity, LOH) durchgeführt und gehört im ZNP seit 2006 neben den klassischen histologischen und immunhistochemischen Methoden zur Routinediagnostik bei Gliomen.. Material. Für die Bestimmung des 1p/19q-Status ist die Einsendung von in Formalin fixierten und in Paraffin-eingebetteten (FFPE) oder kryo-asservierten repräsentativen Tumorgewebeanteilen sowie parallel einer Blutprobe (EDTA- oder Citrat-Blut) der Patienten als Referenz erforderlich.. Abbildung: Mikrosatelliten-PCR Nachweis von Allelverlusten (loss of heterozygosity, LOH). Marker D1S548, D1S1184, D19S601, D19S559 und D19S433 auf Spreadex® EL 600 Gelen (links) und Marker D1S1608, D1S1592, D1S1161, D19S718 und D19S431 auf Spreadex® EL 800 Gelen (rechts), SYBR® Gold-Färbung; 100 bp Leiter. Für jeden Marker wurden die PCRs aus peripheren Blutleukozyten links, vom Tumorgewebe rechts aufgetragen. Obere ...
http://www.neuropathologie.med.uni-muenchen.de/genetik/methoden/index.html
NEHU Institutional Repository: Loss of heterozygosity at chromosome 4q27 and 3p14 regions and methylation and/or expression...
This Institutional Repository has been created to collect, preserve and distribute the scholarly output of NEHU.This will work as an important tool to facilitate scholarly communication and preserve the institution knowledge.. ...
http://dspace.nehu.ac.in/handle/123456789/15691
Identification of distinct regions of allelic loss on chromosome 13q in nasopharyngeal cancer from paraffin embedded tissuesIdentification of distinct regions of allelic loss on chromosome 13q in nasopharyngeal cancer from paraffin embedded tissues
Our main purpose was to identify tumor suppressor gene loci on chromosome 13 responsible for nasopharyngeal cancer (NPC) development by analyzing loss of heterozygosity (LOH) and RB protein expression in paraffin embedded tissues. Normal and tumor DNA were extracted from microdissected samples, and …
https://pubmed.ncbi.nlm.nih.gov/10471529/?dopt=Abstract
Patterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors. | Broad InstitutePatterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors. | Broad Institute
Ileal neuroendocrine tumors (NETs) represent the most common neoplasm of the small intestine. Although up to 50% of patients with ileal NETs are diagnosed with multifocal disease, the mechanisms by which multifocal ileal NETs arise are not yet understood. In this study, we analyzed genome-wide sequencing data to examine patterns of copy number variation in 40 synchronous primary ileal NETs derived from three patients. Chromosome (chr) 18 loss of heterozygosity (LOH) was the most frequent copy number alteration identified; however, not all primary tumors from the same patient had evidence of this LOH. Our data revealed three distinct patterns of chr18 allelic loss, indicating that primary tumors from the same patient can present different LOH patterns including retention of either parental allele. In conclusion, our results are consistent with the model that multifocal ileal NETs originate independently. In addition, they suggest that there is no specific germline allele on chr18 that is the ...
https://www.broadinstitute.org/publications/broad628551
Loss of heterozygosity at D8S262: an early genetic event of hepatocarcinogenesis | Diagnostic Pathology | Full TextLoss of heterozygosity at D8S262: an early genetic event of hepatocarcinogenesis | Diagnostic Pathology | Full Text
Hepatocellular carcinoma (HCC) is a multi-factor, multi-step, multi-gene and complicated process resulting from the accumulation of sequential genetic and epigenetic alterations. An important change among them is from precancerous lesions to HCC. However, only few studies have been reported about the sequential genetic changes during hepatocarcinogenesis. We observed firstly molecular karyotypes of 10 matched HCC using Affymetrix single-nucleotide polymorphism (SNP) 6.0 arrays, and found chromosomal fragments with high incidence (more than 70 %) of loss of heterozygosity (LOH). Then, we selected 28 microsatellite markers at some gene spanning these chromosomal fragments, and examined the frequency of LOH of 128 matched HCC and 43 matched precancerous lesions-dysplastic nodules (DN) by a PCR-based analysis. Finally, we investigated the expression of proteins encoded by these genes in HCC, DN and the surrounding hepatic tissues. The result of Affymetrix SNP6.0 arrays demonstrated that more than 70 % (7/10
https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-015-0308-y
Analysis of losses of heterozygosity of the candidate tumour suppressor gene DMBT1 in melanoma resection specimens.
Deleted in malignant brain tumours 1 (DMBT1), a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, has recently been identified and found to be deleted in several different types of human tumours. In melanomas, the chromosomal regi
http://www.biomedsearch.com/nih/Analysis-losses-heterozygosity-candidate-tumour/12239452.html
Search Results | SOAR (Scholarly Open Access at Rutgers)
AbstractMismatch repair (MMR) is critical for preserving genomic integrity. Failure of this system can accelerate somatic mutation and increase the risk of developing cancer. MSH6, in complex with MSH2, is the MMR protein that mediates DNA repair through the recognition of 1- and 2-bp mismatches. To evaluate the effects of MSH6 deficiency on genomic stability we compared the frequency of in vivo loss of heterozygosity (LOH) between MSH6-proficient and deficient, 129S2 x C57BL/6 F1 hybrid mice that were heterozygous for our reporter gene Aprt. We recovered mutant cells that had functionally lost APRT protein activity and categorized the spectrum of mutations responsible for the LOH events. We also measured the mutant frequency at the X-linked gene, Hprt, as a second reporter for point mutation. In Msh6-/-Aprt+/- mice, mutation frequency at Aprt was elevated in both T cells and fibroblasts by 2.5-fold and 5.7-fold, respectively, over Msh6+/+Aprt+/- littermate controls. While a modest increase in ...
https://soar.libraries.rutgers.edu/search-results?q1=%22Kucherlapati,%20Raju%22&q1field=facet:author&key=soar
Genome-wide analysis indicates association between heterozygote advantage and healthy aging in humans | BMC Genomic Data | Full...Genome-wide analysis indicates association between heterozygote advantage and healthy aging in humans | BMC Genomic Data | Full...
Genetic diversity is known to confer survival advantage in many species across the tree of life. Here, we hypothesize that such pattern applies to humans as well and could be a result of higher fitness in individuals with higher genomic heterozygosity. We use healthy aging as a proxy for better health and fitness, and observe greater heterozygosity in healthy-aged individuals. Specifically, we find that only common genetic variants show significantly higher excess of heterozygosity in the healthy-aged cohort. Lack of difference in heterozygosity for low-frequency variants or disease-associated variants excludes the possibility of compensation for deleterious recessive alleles as a mechanism. In addition, coding SNPs with the highest excess of heterozygosity in the healthy-aged cohort are enriched in genes involved in extracellular matrix and glycoproteins, a group of genes known to be under long-term balancing selection. We also find that individual heterozygosity rate is a significant predictor of
https://bmcgenomdata.biomedcentral.com/articles/10.1186/s12863-019-0758-4
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Most studies that used clonal markers to investigate the relationship between MPTs or to investigate dysplastic lesions occurring in the UADT and that were remote from each other showed polyclonality between these lesions (14 , 79 , 80 , 86 , 88 , 89) . Only a limited amount of MPTs showed the same genetic alterations as evidenced by showing identical microsatellite alterations, LOH patterns, or cytogenetic features (14 , 78 , 79 , 90) . However, the overwhelming majority of remote MPTs show no clonal relationships and can therefore be assumed to have developed independently.. HNSCC or adjacent premalignant lesions that are located very close to each other more often show identical genetic changes. Califano et al. (12) observed a clonal relationship between five HNSCCs and the tumor-adjacent premaligant lesions by using LOH pattern analysis. Two patients with synchronous HNSCC tumors lying close to each other were investigated for clonality by Van Oijen et al. (80) . The first patient showed an ...
http://cebp.aacrjournals.org/content/9/3/249
Loss of heterozygosity for chromosome region 11p15 in Wilms tumours is not related to HRAS gene transforming mutations -...
Fingerprint Dive into the research topics of Loss of heterozygosity for chromosome region 11p15 in Wilms tumours is not related to HRAS gene transforming mutations. Together they form a unique fingerprint. ...
https://augusta.pure.elsevier.com/en/publications/loss-of-heterozygosity-for-chromosome-region-11p15-in-wilms-tumou/fingerprints/
The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive...The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive...
Qiu, G.-H.,Lim, C.Y.,Tao, Q.,Tan, L.K.S.,Loh, K.S.,Srivastava, G.,Tsai, S.-T.,Tsao, S.W. (2004). The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive gene and inactivated by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma. Oncogene 23 (27) : 4793-4806. [email protected] Repository. https://doi.org/10.1038/sj.onc.1207632 ...
http://scholarbank.nus.edu.sg/handle/10635/33985
BREEDING OF FRUIT CROPS - Lecture.3 - Problems in fruit breeding - poly ploidy and heterozygosity - INSAGRI
BREEDING OF FRUIT CROPS. Lecture.3 - Problems in fruit breeding - poly ploidy and heterozygosity. The main objectives of fruit breeding are to get maximum quality production per unit area with low cost, besides tolerance to biotic and abiotic stresses, the obje
https://insagri.com/manga/breeding-of-fruit-crops/lecture-3/
Study of Kidney Tumors in Younger Patients - Full Text View - ClinicalTrials.govStudy of Kidney Tumors in Younger Patients - Full Text View - ClinicalTrials.gov
PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014) II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients.. III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to adjacent muscle and organs, ...
https://clinicaltrials.gov/show/NCT00898365
Study of Kidney Tumors in Younger Patients - Full Text View - ClinicalTrials.govStudy of Kidney Tumors in Younger Patients - Full Text View - ClinicalTrials.gov
PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014) II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients. (Completed as of Amendment 7) III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to ...
https://www.clinicaltrials.gov/ct2/show/NCT00898365?term=AREN03B2&draw=2&rank=1
What causes myeloma cancer? | Reference.comWhat causes myeloma cancer? | Reference.com
As of 2015, the cause of the majority of myeloma cancers is not known, but progress is being made in understanding how mutations in DNA turn tumor suppressor genes on and off, explains the American...
https://www.reference.com/health/causes-myeloma-cancer-23aac9c78fc5cfd0
Population GeneticsPopulation Genetics
GlossaryGene diversityGene diversity is a measure of the expected heterozygosity in a sample of gene copies collected at a single locus. It is a summary statistic used to represent patterns of molecul
http://tiramisutes.github.io/2016/10/28/evolution.html
blood - The Loh Down On Scienceblood - The Loh Down On Science
ba-BUM…ba-BUM…ba-BUM…listen! Is that a tell-tale heart? This is Sandra Tsing Loh with the Loh Down on Science. Youve seen the crime TV shows. A forensic expert recreates the scene of the crime just by looking at the blood spatters. From this, they solve the case! Well, not so fast, says. Continue reading ...
https://lohdownonscience.com/tag/blood/
Wider-than-Expected Q3 Loss at AlnylamWider-than-Expected Q3 Loss at Alnylam
Alnylams third quarter 2013 loss of 48 cents per share was wider than the Zacks Consensus Estimate of a loss of 38 cents per share.
https://finance.yahoo.com/news/wider-expected-q3-loss-alnylam-140003949.html
Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...
The foregoing examples show that the finding of population heterozygote advantage, as in the infectious disease studies cited, does not support an inference of allele-specific overdominance, the condition of primary interest as an immunological hypothesis and a mechanism for the maintenance of MHC diversity. Put another way, population heterozygote advantage may appear due to a combination of the two distinct mechanisms we defined in the Introduction: the protective or detrimental effects of particular alleles (R and S alleles in our model), and the effects of heterozygosity itself. The effects of R and S alleles appear as effects of heterozygosity vs. homozygosity because heterozygotes and homozygotes will in general carry different distributions of S and R alleles; thus, in an analysis that fails to condition on the alleles carried, heterozygosity is confounded with the alleles carried.. One advantage of correctly separating the effects of individual alleles from the effects of heterozygosity ...
https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-4-2
Evidence for common clonal origin of multifocal lung cancers<...
TY - JOUR. T1 - Evidence for common clonal origin of multifocal lung cancers. AU - Wang, Xiaoyan. AU - Wang, Mingsheng. AU - MacLennan, Gregory T.. AU - Abdul-Karim, Fadi W.. AU - Eble, John N.. AU - Jones, Timothy D.. AU - Olobatuyi, Felix. AU - Eisenberg, Rosana. AU - Cummings, Oscar W.. AU - Zhang, Shaobo. AU - Lopez-Beltran, Antonio. AU - Montironi, Rodolfo. AU - Zheng, Suqin. AU - Lin, Haiqun. AU - Davidson, Darrell D.. AU - Cheng, Liang. PY - 2009/4/1. Y1 - 2009/4/1. N2 - Background Lung cancer is the most common cause of cancer death in the United States. Multiple anatomically separate but histologically similar lung tumors are often found in the same patient. The clonal origin of multiple lung tumors is uncertain. Methods We analyzed 70 lung tumors from 30 patients (23 females and seven males) who underwent surgical resection for lung epithelial tumors, of whom 26 had non-small cell carcinomas and four had carcinoid/atypical carcinoid tumors. All patients had multiple tumors (two to ...
https://indiana.pure.elsevier.com/en/publications/evidence-for-common-clonal-origin-of-multifocal-lung-cancers
Genome-wide high-resolution mapping of UV-induced mitotic recombination events in Saccharomyces cerevisiae.Genome-wide high-resolution mapping of UV-induced mitotic recombination events in Saccharomyces cerevisiae.
Author(s): Yin, Yi; Petes, Thomas D | Abstract: In the yeast Saccharomyces cerevisiae and most other eukaryotes, mitotic recombination is important for the repair of double-stranded DNA breaks (DSBs). Mitotic recombination between homologous chromosomes can result in loss of heterozygosity (LOH). In this study, LOH events induced by ultraviolet (UV) light are mapped throughout the genome to a resolution of about 1 kb using single-nucleotide polymorphism (SNP) microarrays. UV doses that have little effect on the viability of diploid cells stimulate crossovers more than 1000-fold in wild-type cells. In addition, UV stimulates recombination in G1-synchronized cells about 10-fold more efficiently than in G2-synchronized cells. Importantly, at high doses of UV, most conversion events reflect the repair of two sister chromatids that are broken at approximately the same position whereas at low doses, most conversion events reflect the repair of a single broken chromatid. Genome-wide mapping of about 380
https://escholarship.org/uc/item/36n044f6
STRAD in Peutz-Jeghers syndrome and sporadic cancers | Journal of Clinical PathologySTRAD in Peutz-Jeghers syndrome and sporadic cancers | Journal of Clinical Pathology
As shown in fig 1, 13 of 29 patients showed LOH of the D17S944 marker near the STRAD locus. All informative gastric adenocarcinomas showed LOH of the STRAD marker, whereas only one of the 12 lung adenocarcinomas showed LOH. Four of the eight ovarian and seven of the 12 colon adenocarcinomas showed LOH. To investigate whether LOH near the STRAD gene was specific in these patients, the LOH status near the TP53 and BRCA1 loci was also assessed.. Three of eight ovarian adenocarcinomas showed retention of all informative markers on chromosome 17. In contrast, two cases showed LOH of all informative markers tested. In the other cases, TP53, BRCA1, or another gene might be affected except for ovarian adenocarcinoma 7 where STRAD seemed to be specifically lost.. Two of the 10 gastric adenocarcinomas showed retention of all chromosome 17 markers and another two showed LOH of all informative markers on chromosome 17. In most cases (, 70%) LOH of the TP53 markers was seen. The LOH results were supported by ...
http://jcp.bmj.com/content/58/10/1091
Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. - PubMed -...Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. - PubMed -...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
https://www.ncbi.nlm.nih.gov/pubmed/?term=colorectal%20cancer%20metastatic%20AND%20RAD54B
Genetic diversity on squirrels - Biology-OnlineGenetic diversity on squirrels - Biology-Online
Try again. Im assuming the data in the table is the allele frequency for the three alleles of locus 1 and that each column is one taxon-and here I reveal my ignorance of genetic terms because I dont know for certain what a taxon is and I havent bothered to look up the definition. For the other 10 loci there may be a fewer or greater number of alleles per locus. If the tabulated data are the allele frequencies, then the answer to 3) is just read off the table multiplied by 100 to express the proportion as a percentage. For 1) you should be able to caluclate %P for each column (taxon?) as ((# loci with multiple alleles)/11)X100. For the number of alleles/locus wouldnt that just be (total # of alleles)/11 calculated for each column? The allele frequencies should just be read off the table, I think. Then the %heterozygosity for each locus can be calculated per taxon with Hardy-Weinberg, as above, and the average heterozygosity would be the average of the %heterozygosity per locus calculated for ...
https://www.biology-online.org/biology-forum/viewtopic.php?t=14288&p=103096&hilit=Sampling+Error
Young, Mol Vis 2007; 13:2328-2333.Young, Mol Vis 2007; 13:2328-2333.
Results. Comparison of sample recoveries for chromosome 3 fluorescence in-situ hybridization assay and mapping array analysis. Of the 59 patients who underwent FNAB, FISH results were obtained in 38 (64%) of the cases. Parallel, pooled aspirates (range; 2-4) from each patient were processed for simultaneous isolation of DNA and RNA, and the nucleic acid recoveries were determined. Where DNA recoveries exceeded 350 ng, samples were determined to be adequate for mapping array analysis. Of the 59 patients who underwent FNAB, 49 (83%) of the cases yielded adequate DNA, ranging 380-3040 ng. Six of these 49 failed to generate adequate probe for microarray due to melanin coprecipitation. Mapping array data were successfully obtained in the remaining 43 cases (73%) of the total cases. Mapping arrays not only provided data in all 38 cases where FISH data were obtained, but also provided data in five patients in whom FISH data were not obtained.. Comparison of findings of chromosome 3 fluorescence in-situ ...
http://www.molvis.org/molvis/v13/a263/
Functional characterization of WAC, a candidate tumor suppressor gene in colorect - Caitlin ConboyFunctional characterization of WAC, a candidate tumor suppressor gene in colorect - Caitlin Conboy
Colorectal Cancer (CRC) is a genetic disease in which progression is driven by the accumulation of mutations or epigenetic alterations in oncogenes and tumor su...
http://grantome.com/grant/NIH/F30-CA171547-02
Tumor suppressor genes and assoc. Cancers (by fohikugu) - Memorize.com - Learn and Remember
Learn Tumor suppressor genes and assoc. Cancers facts using a simple interactive process (flashcard, matching, or multiple choice). Finally a format that helps you memorize and understand. Browse or search in thousands of pages or create your own page using a simple wizard. No signup required!
http://memorize.com/tumor-suppressor-genes-and-assoc-cancers/fohikugu
The diagnosis of tumours in childrenThe diagnosis of tumours in children
In this way, the corresponding DNA was obtained from the tumours and the indicated cellular lines, in order to subsequently determine the frequency of homozygotic delections, loss of heterozygosity, instability of microsatellites, hypermethylation of the promoter and the level of genetic expression of the previously mentioned genes, all of these being mechanisms that can inactivate the tumour suppressor genes and, thus, favour the formation of the tumour. The techniques used in order to carry out this analysis were differential PCR, standard PCR, MSP and RT-PCR. The profile of gains and losses of genetic material at a global genome level was also studied by means of CGH ...
http://www.innovations-report.com/html/reports/medicine-health/report-45913.html
R, this data suggests that Mtap may be acting in a | CTSK Inhibito ctskinhibito.com
R, this data suggests that Mtap may be acting in a haploinsufficient manner. To develop evidence that germline heterozygosity for Mtap can have phenotypic
http://www.ctskinhibito.com/2017/07/21/r-this-data-suggests-that-mtap-may-be-acting-in-a/
Fal River Cornwall - Where adventure beginsFal River Cornwall - Where adventure begins
Your guide to Fal River Cornwall. Boat trips to places to stay, eat and drink to walks. We hope you find everything youre looking for.
https://www.falriver.co.uk/
demotivational poster NEW MOTIFAKERS Its nothing personal... Now go away!
Before I registered, when I was being a timmy, I thought motifaking was simple at best. One regular poked me, and a second hit me pretty good. I could have dropped this site right then. But I spent a some time lurking and learning instead. ...
http://www.motifake.com/new-motifakers-demotivational-posters-73322.html
Loss of Heterozygosity for Loci on the Long Arm of Chromosome 6 in Human Malignant Melanoma<...
TY - JOUR. T1 - Loss of Heterozygosity for Loci on the Long Arm of Chromosome 6 in Human Malignant Melanoma. AU - Millikin, D.. AU - Trent, J.. PY - 1991/10/15. Y1 - 1991/10/15. N2 - Malignant melanoma has been documented to display recurring abnormalities of chromosome 6, particularly the long arm (6q). Restriction fragment length polymorphism analysis was used as a molecular genetic approach to examine loci on chromosome 6q for loss of constitutional heterozygosity (LOH). Five DNA markers that recognize restriction fragment length polymorphisms along 6q and one polymorphic DNA marker for 6p were used to screen 20 autologous pairs of tumor DNA and normal DNA to determine the tumor and constitutional genotypes of each patient. LOH on chromosome 6q was identified at 21 of S3 inform ative loci (40%). Five patients with more than one informative locus had allele losses consistent with the loss of the entire long arm (or of an entire copy) of chromosome 6, while four other patients demonstrated ...
https://jhu.pure.elsevier.com/en/publications/loss-of-heterozygosity-for-loci-on-the-long-arm-of-chromosome-6-i-4
Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma...
TY - JOUR. T1 - Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression. AU - Somerville, R. P.T.. AU - Shoshan, Y.. AU - Eng, C.. AU - Barnett, G.. AU - Miller, D.. AU - Cowell, J. K.. N1 - Funding Information: This work was in part supported by the Rose-Ella Burkhardt Endowment Fund.. PY - 1998/10/1. Y1 - 1998/10/1. N2 - The transition from low grade astrocytoma to glioblastoma multiforme is almost always accompanied by the loss of genetic markers from chromosome 10. Recently two genes, PTEN/MMAC1/TEP1 and DMBT, have been isolated from chromosome 10q. We have analysed these two genes for mutations in 21 primary glioblastomas. An exon by exon screen of the PTEN gene using SSCP failed to identify any mutations in this tumour series. In contrast, 38% of tumours showed intragenic homozygous deletions in the DMBT gene. The fact that the majority of gliomas do not carry mutations in either of these genes ...
https://augusta.pure.elsevier.com/en/publications/molecular-analysis-of-two-putative-tumour-suppressor-genes-pten-a
Molecular disorders in transitional vs. peripheral zone prostate adenocarcinoma<...
TY - JOUR. T1 - Molecular disorders in transitional vs. peripheral zone prostate adenocarcinoma. AU - Colombo, Piergiuseppe. AU - Patriarca, Carlo. AU - Alfano, Rosa Maria. AU - Cassani, Barbara. AU - Grimaldi, Giorgia Ceva. AU - Roncalli, Massimo. AU - Bosari, Silvano. AU - Coggi, Guido. AU - Campo, Biagio. AU - Gould, Victor E.. PY - 2001/11/1. Y1 - 2001/11/1. N2 - Loss of heterozygosity (LOH) and microsatellite instability (MSI) have been shown to be mechanisms for tumor-suppressor gene inactivation in human oncogenesis. In our study, we examined LOH and MSI using 16 polymorphic markers of DNA for chromosomes 1, 3, 7, 8, 10 and 11. Microdissected tumor samples were isolated from 32 patients, representing 11 foci of incidentally discovered prostate cancer of the transitional zone (TZ), 12 prostate cancer of the peripheral zone (PZ) and 10 of high-grade PIN. We found loss of heterozygosity in the TZ group in 91% of informative cases (10/11) with al least 1 marker compared to 58% of cases (7/12) ...
https://moh-it.pure.elsevier.com/en/publications/molecular-disorders-in-transitional-vs-peripheral-zone-prostate-a
Isolation and characterization of nine polymorphic microsatellite markers for the deep-sea shrimp Nematocarcinus lanceopes ...Isolation and characterization of nine polymorphic microsatellite markers for the deep-sea shrimp Nematocarcinus lanceopes ...
The shrimp Nematocarcinus lanceopes Bate, 1888 is found in the deep sea around Antarctica and sub-Antarctic islands. Previous studies on mitochondrial data and species distribution models provided evidence for a homogenous circum-Antarctic population of N. lanceopes. However, to analyze the fine-scale population genetic structure and to examine influences of abiotic environmental conditions on population composition and genetic diversity, a set of fast evolving nuclear microsatellite markers is required. We report the isolation and characterization of nine polymorphic microsatellite markers from the Antarctic deep-sea shrimp species Nematocarcinus lanceopes (Crustacea: Decapoda: Caridea). Microsatellite markers were screened in 55 individuals from different locations around the Antarctic continent. All markers were polymorphic with 9 to 25 alleles per locus. The observed heterozygosity ranged from 0.545 to 0.927 and the expected heterozygosity from 0.549 to 0.934. The reported markers provide a novel
https://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0500-6-75
OPUS Würzburg | SearchOPUS Würzburg | Search
Adrenocortical tumors consist of benign adenomas and highly malignant carcinomas with a still incompletely understood pathogenesis. A total of 46 adrenocortical tumors (24 adenomas and 22 carcinomas) were investigated aiming to identify novel genes involved in adrenocortical tumorigenesis. High-resolution single nucleotide polymorphism arrays (Affymetrix) were used to detect copy number alterations (CNAs) and copy neutral losses of heterozygosity (cnLOH). Genomic clustering showed good separation between adenomas and carcinomas, with best partition including only chromosome 5, which was highly amplified in 17/22 malignant tumors. The malignant tumors had more relevant genomic aberrations than benign tumors, such as a higher median number of recurrent CNA (2631 vs 94), CNAs ,100 Kb (62.5 vs 7) and CN losses (72.5 vs 5.5), and a higher percentage of samples with cnLOH (91% vs 29%). Within the carcinoma cohort, a precise genetic pattern (i.e. large gains at chr 5, 7, 12, and 19, and losses at chr ...
https://opus.bibliothek.uni-wuerzburg.de/solrsearch/index/search/searchtype/authorsearch/author/%22Henzel%2C+Katharina%22
Plus itPlus it
In this study we examined the LOH of 11 dinucleotide repeat loci on chromosome 10 in 208 meningiomas of all grades. We investigated the incidence and complexity of LOH relative to tumor progression. For all alleles examined, the incidence of LOH was much higher in all grades than that reported previously, with incidence and complexity of LOH increasing with tumor grade. Mapping of the regions of LOH of all of the tumors defined four regions of chromosomal deletion. These deletions coincide with those found in other cancers, supporting the hypothesis that candidate tumor suppressor genes in these regions contribute to meningeal tumorigenesis and progression.. To expand on previous studies, we examined LOH of alleles used in previous meningioma reports (11, 12, 13, 14, 15) , as well as additional loci mapping near known and candidate tumor suppressor genes on 10q. The present data are in good agreement with our reported data (11) that LOH occurs at markers D10S89 and D10S169 and with the 10q LOH ...
https://clincancerres.aacrjournals.org/content/9/12/4435
GMS | 27th German Cancer Congress Berlin 2006 | Identification of genes, biological processes and pathways involved in the...
Background: Several cytogenetic studies demonstrated frequent allelic losses at defined regions on chromosome 6 in breast tumors, suggesting the presence of tumor suppressor genes (TSGs) contributing to breast cancer tumorigenesis. Different techniques identified several candidate TSGs on chromosome 6 in breast cancer, but no functional evidence for a TSG function for these genes could be supplied so far. Method: In order to identify key genes and elucidate the regulatory pathways that are involved in the development and progression of breast cancer, we combined array-based expression profiling with the microcell mediated transfer of chromosome 6 into MDA-MB-231 breast cancer cells. Results: Microcell mediated transfer of chromosome 6 into MDA-MB-231 breast cancer cells resulted in hybrids characterised by reduced anchorage dependent growth and a strongly reduced tumorigenicity in nude mice. Comparing the expression profiles of tumorigenic parental cells and non-tumorigenic hybrids we identified ...
http://www.egms.de/static/en/meetings/dkk2006/06dkk207.shtml
Institute of Cancer Research Repository - Expression profile of wild-type ETV6 in childhood acute leukaemia
Expression profile of wild-type ETV6 in childhood acute leukaemia. Comparative expression analysis of wild-type ETV6 in the disease state showed an absence of expression in ETV6-CBFA2 acute lymphoblastic leukaemia (ALL) when compared with non-ETV6-CBFA2 ALL and acute myeloid leukaemia. Fluorescent in-situ hybridization and loss of heterozygosity studies showed that 73% of the ETV6-CBFA2 samples had a fully or partially deleted second ETV6 allele, explaining the lack of wild-type expression in these patients. Although the second ETV6 allele was identified in the remaining patients, no ETV6 expression was detected. These observations support the hypothesis that loss of ETV6 expression is a critical secondary event for leukaemogenesis in ETV6-CBFA2 ALL.. ...
http://publications.icr.ac.uk/1551/
Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers | ScienceIdentification of a gene located at chromosome 5q21 that is mutated in colorectal cancers | Science
Recent studies have suggested the existence of a tumor suppressor gene located at chromosome region 5q21. DNA probes from this region were used to study a panel of sporadic colorectal carcinomas. One of these probes, cosmid 5.71, detected a somatically rearranged restriction fragment in the DNA from a single tumor. Further analysis of the 5.71 cosmid revealed two regions that were highly conserved in rodent DNA. These sequences were used to identify a gene, MCC (mutated in colorectal cancer), which encodes an 829-amino acid protein with a short region of similarity to the G protein-coupled m3 muscarinic acetylcholine receptor. The rearrangement in the tumor disrupted the coding region of the MCC gene. Moreover, two colorectal tumors were found with somatically acquired point mutations in MCC that resulted in amino acid substitutions. MCC is thus a candidate for the putative colorectal tumor suppressor gene located at 5q21. Further studies will be required to determine whether the gene is mutated ...
https://science.sciencemag.org/content/251/4999/1366?ijkey=17939b4489cf379671d77411661a0a77694ec3f2&keytype2=tf_ipsecsha
The effect of heterozygosity for new mutations on viability in Drosophila: a preliminary report - CSHL Scientific Digital...The effect of heterozygosity for new mutations on viability in Drosophila: a preliminary report - CSHL Scientific Digital...
Wallace, Bruce (1957) The effect of heterozygosity for new mutations on viability in Drosophila: a preliminary report. Proceedings of the National Academy of Sciences, 43 (5). pp. 404-407. ...
http://repository.cshl.edu/id/eprint/37011/
The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.
The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.
https://repository.rcsi.com/articles/The_role_of_proteases_endoplasmic_reticulum_stress_and_SERPINA1_heterozygosity_in_lung_disease_and_-1_anti-trypsin_deficiency_/10785686
Genetic Abnormality Pinpointed for Intensive Therapy in Wilms Tumor | Value-Based Cancer CareGenetic Abnormality Pinpointed for Intensive Therapy in Wilms Tumor | Value-Based Cancer Care
Chicago, IL-In children who are at risk for Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a survival benefit from the augmentation or intensification of therapy. The abnormality-loss of heterozygosity (LOH) on chromosomes 1p and 16q (LOH 1p/16q)-is associated with worse prognosis in children with Wilms tumor.
http://valuebasedcancer.com/issues/2015/july-2015-vol-6-no-6/712-genetic-abnormality-pinpointed-for-intensive-therapy-in-wilms-tumor
Lecture 29 - Tumour Suppressor Genes - Lecture 29 Background Reading Textbook Chapter 19 Tumour Suppressor Genes Biology 1F25...Lecture 29 - Tumour Suppressor Genes - Lecture 29 Background Reading Textbook Chapter 19 Tumour Suppressor Genes Biology 1F25...
View Notes - Lecture 29 - Tumour Suppressor Genes from BIOL BIOL-1F25 at Brock University. Lecture 29 Background Reading Textbook, Chapter 19. Tumour Suppressor Genes Biology 1F25 for Biology
https://www.coursehero.com/file/198775/Lecture-29-Tumour-Suppressor-Genes/
Hyperthyroidism under control, persisting giddiness, imbalance on walking small distance, burning soles. Reason?Hyperthyroidism under control, persisting giddiness, imbalance on walking small distance, burning soles. Reason?
Question - Hyperthyroidism under control, persisting giddiness, imbalance on walking small distance, burning soles. Reason?. Ask a Doctor about when and why Ejection fraction is advised, Ask a General & Family Physician
http://www.healthcaremagic.com/premiumquestions/Hyperthyroidism-under-control-persisting-giddiness-imbalance-on-walking-small-distance-burning-soles-Reason/53094
NCT00898365 Clinical Trial - National Cancer InstituteNCT00898365 Clinical Trial - National Cancer Institute
PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014). II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients.. III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to adjacent muscle and organs, ...
https://www.cancer.gov/about-cancer/treatment/clinical-trials/search/view?cdrid=459797&version=HealthProfessional&protocolsearchid=9725183
OSA | Effect of periodic background loss on grating spectraOSA | Effect of periodic background loss on grating spectra
The effect of periodic loss on the performance of refractive-index gratings has been studied in detail. It is shown that the loss periodicity and relative phase strongly affects the symmetry of the reflection, transmission, and loss spectra. This asymmetry is explained successfully through consideration of the overlap between the standing-wave intensity distribution and the periodic loss pattern.. © 2002 Optical Society of America. Full Article , PDF Article ...
https://www.osapublishing.org/ao/abstract.cfm?uri=ao-41-12-2240
Double HeterozygosityDouble Heterozygosity
All content within the LPA Medical Resource Center, except where indicated, is 2018 Little People of America, Inc. All rights reserved. All other articles, documents and publications herein are copyrighted by their respective authors and are used by express permission. No content herein may be used elsewhere without express written permission from the copyright holder(s). Use of this site constitutes acceptance of its disclaimers ...
https://lpamrs.memberclicks.net/index.php?option=com_content&view=article&id=49
give it up for lovely lady, Inner Ear Imbalance on the main stage
i assume that an inner ear imbalance is what is affecting her here. this reminds me of my bachelor party many years ago. a buddy arranged for a less-than-attractive, VERY overserved dancer to give me a lapper. if memory serves,...
http://droogie.typepad.com/guy_in_a_bear_suit/2013/04/give-it-up-for-lovely-lady-inner-ear-imbalance-on-the-main-stage.html
mouse Rassf3 protein Summary Report | CureHuntermouse Rassf3 protein Summary Report | CureHunter
mouse Rassf3 protein: mouse homolog of the putative tumor suppressor gene RASSF1; about 60% homology at the amino acid level, possibly involved in Ras-like signaling pathways; RefSeq NM_138956
http://www.curehunter.com/public/keywordSummaryC454043-mouse-Rassf3-protein.do
Copy Number Alterations - Determining Gene Alterations | CourseraCopy Number Alterations - Determining Gene Alterations | Coursera
Video created by The State University of New York for the course Big Data, Genes, and Medicine. After this module, you will be able to 1. List different types of gene alterations. 2. Compare and contrast methods for detecting gene mutations. 3. ...
https://zh.coursera.org/learn/data-genes-medicine/lecture/1Ybdq/copy-number-alterations
Leucine Zipper, Putative Tumor Suppressor 1 (LZTS1) AnticorpsLeucine Zipper, Putative Tumor Suppressor 1 (LZTS1) Anticorps
Réactivité: Roussette (Chauve-souris), Boeuf (Vache), Chien and more. Comparez 56 LZTS1 Anticorps. Commandez directement chez anticorps-enligne.fr.
http://www.anticorps-enligne.fr/synaptic-membrane-pathway-75/lzts1-antibody-376/
K rd sek s v laszok
A gyomortartalom nyel cs be val vissza raml sa nem rtatlan jelens g: a nyel cs ny lkah rty j t a visszajut - gyomorsavakkal s em szt nedvekkel elkeveredett - gyomor- s nyomb ltartalom irrit lja, bels fal t kimarja, s a gyomor g s lland sul. Ha a gyomorsav vissza raml sa panaszokat okoz, g
https://debug20110602.hazipatika.com/taplalkozas/reflux/kerdesek_es_valaszok
Loss of heterozygosityLoss of heterozygosity
... resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity ... "Mapping loss of heterozygosity in normal human breast cells from BRCA1/2 carriers" - BJC "Loss of Heterozygosity Studies on ... Loss of heterozygosity can be identified in cancers by noting the presence of heterozygosity at a genetic locus in an ... Wikimedia Commons has media related to Loss of heterozygosity. "Long-term study of the clinical significance of loss of ...
https://en.wikipedia.org/wiki/Loss_of_heterozygosity
RecLOHRecLOH
... is a term in genetics that is an abbreviation for "Recombinant Loss of Heterozygosity". This is a type of mutation which ... Krahn, Thomas (2005). "Recombinational Loss of Heterozygosity (recLOH)". DNA-Fingerprint, Germany. Archived from the original ... Because differences are lost, heterozygosity is lost. Recombination on the Y-chromosome does not only take place during meiosis ...
https://en.wikipedia.org/wiki/RecLOH
RAD51RAD51
... losses of heterozygosity (LOH). This excess LOH was thought to be due to excess recombination caused by induced expression of ... Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. ... Rad51 has a crucial function in meiotic prophase in mice and its loss leads to depletion of late prophase I spermatocytes. ...
https://en.wikipedia.org/wiki/RAD51
LymphangioleiomyomatosisLymphangioleiomyomatosis
... this is referred to as loss of heterozygosity or LOH. LOH can be detected in microdissected LAM cells, in angiomyolipomas and ... Loss of TSC1/TSC2 in LAM induces uncontrolled LAM cell growth and increases LAM cell viability. Upregulation of STAT1 and STAT3 ... The second hit event in LAM cells is often loss of the chromosomal region containing the wild-type copy of the TSC2 gene; ... "loss of function" mutations in the TSC1 or TSC2 genes, which were cloned in 1997 and 1993 respectively. The TSC1 gene is ...
https://en.wikipedia.org/wiki/Lymphangioleiomyomatosis
SNP arraySNP array
For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele of a gene is mutated in a ... Zheng, Hai-Tao (2005). "Loss of heterozygosity analyzed by single nucleotide polymorphism array in cancer". World Journal of ...
https://en.wikipedia.org/wiki/SNP_array
2,6-Diaminopurine2,6-Diaminopurine
"Chromosome instability contributes to loss of heterozygosity in mice lacking p53". Proceedings of the National Academy of ...
https://en.wikipedia.org/wiki/2,6-Diaminopurine
Tet methylcytosine dioxygenase 2Tet methylcytosine dioxygenase 2
It resides at chromosome 4q24, in a region showing recurrent microdeletions and copy-neutral loss of heterozygosity (CN-LOH) in ... June 2009). "Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms". ... Loss-of-function due to somatic variants are frequently reported in cancer, however homozygous germline loss-of-function has ... Loss-of-function TET2 mutations may also have a possible causal role in atherogenesis as reported by Jaiswal S. et al, as a ...
https://en.wikipedia.org/wiki/Tet_methylcytosine_dioxygenase_2
BRCA mutationBRCA mutation
The loss of the functional copy is called loss of heterozygosity (LOH). Any resulting errors in DNA repair may result in cell ...
https://en.wikipedia.org/wiki/BRCA_mutation
Scott WaldmanScott Waldman
"Silencing the intestinal GUCY2C tumor suppressor axis requires APC loss of heterozygosity". Cancer Biology & Therapy. 21 (9): ... "Loss Of This Hormone Could Up Your Chance Of Colon Cancer". Medical Daily. Retrieved 2020-08-15. Blomain, Erik S.; Merlino, ...
https://en.wikipedia.org/wiki/Scott_Waldman
CREB-binding proteinCREB-binding protein
Interestingly, tumor sequencing showed loss of heterozygosity for the wild type allele. One explanation proposed for these ... The majority of these mutations have been show to cause loss of function of the gene via deletions, point or truncating ... Rouaux C, Loeffler JP, Boutillier AL (September 2004). "Targeting CREB-binding protein (CBP) loss of function as a therapeutic ...
https://en.wikipedia.org/wiki/CREB-binding_protein
Malignant peripheral nerve sheath tumorMalignant peripheral nerve sheath tumor
Evidence supporting this hypothesis includes loss of heterozygosity on the 17p chromosome. The p53 (a tumor suppressor gene in ... Pain or discomfort: numbness, burning, or "pins and needles." Dizziness and/or loss of balance. Soft tissue sarcomas have been ... hair loss, lethargy, weakness, etc. Patient response to treatment will vary based on age, health, and the tolerance to ...
https://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor
CUX1CUX1
Loss-of-heterozygosity (LOH) of the 7q22.1 chromosomal region, where CUX1 resides, was reported in 8-22% of various cancer, and ... Zeng WR, Watson P, Lin J, Jothy S, Lidereau R, Park M, and Nepveu A. "Refined mapping of the region of loss of heterozygosity ... "Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis". Blood 2012, 119(25):6109-17. ... "Loss Of Heterozygosity and Reduced Expression Of the Cutl1 Gene In Uterine Leiomyomas". Oncogene 1997, 14(19):2355-65. ...
https://en.wikipedia.org/wiki/CUX1
Virtual karyotypeVirtual karyotype
Loss of heterozygosity for chromosomes 1p and 16q is an adverse prognostic factor in favorable-histology Wilms tumor: a report ... Concomitant gain of 7 and loss of 10 is essentially pathognomonic for GBM EGFR amplification, loss of PTEN (on 10q), and loss ... Both autozygous segments and UPD will show loss of heterozygosity (LOH) with a copy number of two by SNP array karyotyping. The ... Onken MD, Worley LA, Person E, Char DH, Bowcock AM, Harbour JW (2007). "Loss of heterozygosity of chromosome 3 detected with ...
https://en.wikipedia.org/wiki/Virtual_karyotype
MXI1MXI1
Ariyanayagam-Baksh SM, Baksh FK, Swalsky PA, Finkelstein SD (2004). "Loss of heterozygosity in the MXI1 gene is a frequent ... non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas". Hum. Genet. 95 (6 ... Prochownik EV, Eagle Grove L, Deubler D, Zhu XL, Stephenson RA, Rohr LR, Yin X, Brothman AR (1999). "Commonly occurring loss ...
https://en.wikipedia.org/wiki/MXI1
SAFBSAFB
"High rates of loss of heterozygosity on chromosome 19p13 in human breast cancer". Br. J. Cancer. 84 (4): 493-8. doi:10.1054/ ...
https://en.wikipedia.org/wiki/SAFB
Insulin-like growth factor 2 receptorInsulin-like growth factor 2 receptor
De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL (1995). "Frequent loss of heterozygosity on 6q at the ... "M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity". Nat. Genet. 11 (4): 447-9. doi: ...
https://en.wikipedia.org/wiki/Insulin-like_growth_factor_2_receptor
Mannose 6-phosphate receptorMannose 6-phosphate receptor
Loss of heterozygosity (LOH) at the CI-MPR locus has been displayed in multiple cancer types including liver and breast. ... De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL (1995). "Frequent loss of heterozygosity on 6q at the ... "M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity". Nat. Genet. 11 (4): 447-9. doi: ... Studies of multiple human cancers have shown that a loss of the CI-MPR function is associated with a progression in ...
https://en.wikipedia.org/wiki/Mannose_6-phosphate_receptor
LeukoplakiaLeukoplakia
September 2012). "Loss of heterozygosity (LOH) profiles--validated risk predictors for progression to oral cancer". Cancer ... Loss the normal organization of the epithelial layers. The distinction between the epithelial layers may be lost. Normally ...
https://en.wikipedia.org/wiki/Leukoplakia
PLAGL1PLAGL1
Cvetkovic D, Pisarcik D, Lee C, Hamilton TC, Abdollahi A (2004). "Altered expression and loss of heterozygosity of the LOT1 ...
https://en.wikipedia.org/wiki/PLAGL1
RAD54BRAD54B
2007). "Loss of heterozygosity in the RAD54B region is not predictive for breast carcinomas". Pol J Pathol. 58 (1): 3-6. PMID ... Inhibitors of PARP1 likely impede alternative DNA repair responses that might otherwise compensate for loss of the RAD54B ...
https://en.wikipedia.org/wiki/RAD54B
CDH11CDH11
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... Marchong MN, Chen D, Corson TW, Lee C, Harmandayan M, Bowles E, Chen N, Gallie BL (2005). "Minimal 16q genomic loss implicates ... Braungart E, Schumacher C, Hartmann E, Nekarda H, Becker KF, Höfler H, Atkinson MJ (2000). "Functional loss of E-cadherin and ...
https://en.wikipedia.org/wiki/CDH11
Medium ground finchMedium ground finch
Typically, this leads to a loss of genetic diversity and a reduction in heterozygosity. Like the other members of its genus, ... Markert, J. A.; Grant, P. R.; Grant, B. R.; Keller, L. F.; Coombs, J. L. & Petren, K. (2004). "Neutral locus heterozygosity, ...
https://en.wikipedia.org/wiki/Medium_ground_finch
GNMTGNMT
... loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer". Clinical Cancer Research. 13 ...
https://en.wikipedia.org/wiki/GNMT
CDH17CDH17
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... "Mapping of a cadherin gene cluster to a region of chromosome 5 subject to frequent allelic loss in carcinoma". Genomics. 57 (1 ...
https://en.wikipedia.org/wiki/CDH17
CDH15CDH15
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ...
https://en.wikipedia.org/wiki/CDH15
Cadherin-2Cadherin-2
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... and a loss in muscular tension. Mice died within two months of transgene expression, mainly due to spontaneous Ventricular ... Loss of N-cadherin is also associated with attention-deficit hyperactivity disorder in humans, and impaired synaptic ...
https://en.wikipedia.org/wiki/Cadherin-2
VE-cadherinVE-cadherin
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity ... Deubiquitinase function of A20 was shown to remove ubiquitin chains from VE-cadherin, thereby prevented loss of VE-cadherin ...
https://en.wikipedia.org/wiki/VE-cadherin
Mir-16 microRNA precursor familyMir-16 microRNA precursor family
Dong JT, Boyd JC, Frierson HF Jr (2001). "Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer ... Xu F, Zhang X, Lei Y, Liu X, Liu Z, Tong T, Wang W (2010). "Loss of repression of HuR translation by miR-16 may be responsible ... The fact that mir-16 microRNA loss is observed in a large proportion of cells indicates the change occurred early in cancer ...
https://en.wikipedia.org/wiki/Mir-16_microRNA_precursor_family
Mir-562 microRNA precursor familyMir-562 microRNA precursor family
"Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562". Clinical Cancer Research. 15 (19): 5985-92 ...
https://en.wikipedia.org/wiki/Mir-562_microRNA_precursor_family
CPVLCPVL
Grundy RG, Pritchard J, Scambler P, Cowell JK (July 1998). "Loss of heterozygosity for the short arm of chromosome 7 in ...
https://en.wikipedia.org/wiki/CPVL
ZTTK syndromeZTTK syndrome
However, SON loss of function (LoF) variants appear to cause a clinically distinguished phenotype. The key signs and symptoms ... Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion, de novo mutation in exon ... hypoplasia of the corpus callosum and cerebellar hemispheres and loss of periventricular white matter. Most individuals with ...
https://en.wikipedia.org/wiki/ZTTK_syndrome
Small population sizeSmall population size
... leading to loss of heterozygosity and reduced genetic diversity and loss or fixation of alleles and shifts in allele ... "Estimation of average heterozygosity and genetic distance from a small number of individuals." Genetics 89.3 (1978): 583-590. ... The allele selected for by natural selection becomes fixed more quickly, resulting in the loss of the other allele at that ... Lacy, Robert C. "Loss of genetic diversity from managed populations: interacting effects of drift, mutation, immigration, ...
https://en.wikipedia.org/wiki/Small_population_size
InbreedingInbreeding
As of 2014, around 5% of the Qatari population suffered from hereditary hearing loss; most were descendants of a consanguineous ... Researchers found far greater genetic heterozygosity than expected. In fact, predators are known for low genetic variance, ... Studies have confirmed an increase in several genetic disorders due to inbreeding such as blindness, hearing loss, neonatal ... Breeders must avoid breeding from individuals that demonstrate either homozygosity or heterozygosity for disease causing ...
https://en.wikipedia.org/wiki/Inbreeding
Plakophilin-1Plakophilin-1
Zheng R, Bu DF, Zhu XJ (2006). "Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a ... "Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and ...
https://en.wikipedia.org/wiki/Plakophilin-1
Simarouba amaraSimarouba amara
A study of 300 plants on Barro Colorado Island found that the heterozygosity at 5 microsatellite loci varied between 0.12 and ... the findings suggest that rather than closing their stomata to control water loss, it is controlled by the leaf area instead. ... Populations of S. amara display high levels of heterozygosity indicating that it is genetically diverse. This is consistent ...
https://en.wikipedia.org/wiki/Simarouba_amara
Lost Pines ForestLost Pines Forest
The distribution of allele frequencies was skewed for the Lost Pines population compared to the control, indicating a loss of ... These results were supported by: (i) detection of transient heterozygosity excess, (ii) a mode-shift indicator of allele ...
https://en.wikipedia.org/wiki/Lost_Pines_Forest
Cystic fibrosis transmembrane conductance regulatorCystic fibrosis transmembrane conductance regulator
Being a heterozygous carrier (having a single copy of ΔF508) results in decreased water loss during diarrhea because ... For example, it has been shown that heterozygosity for cystic fibrosis is associated with increased airway reactivity, and ... Dahl M, Tybjaerg-Hansen A, Lange P, Nordestgaard BG (June 1998). "DeltaF508 heterozygosity in cystic fibrosis and ... of three nucleotides which results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. As a ...
https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
Fibrocystic breast changesFibrocystic breast changes
... genetic and karyotypic changes such as modified expression of hormone receptors and loss of heterozygosity. Several variants of ...
https://en.wikipedia.org/wiki/Fibrocystic_breast_changes
Keratolytic winter erythemaKeratolytic winter erythema
Within this region, the occurrence of loss of heterozygosity (simultaneous loss of function in both alleles of a gene) has been ... resulting in a loss of genetic diversity. In the context of KWE, the founder effect was confirmed by haplotype analysis, which ... "Allelic losses at chromosome 8p21-23 are early and frequent events in the pathogenesis of lung cancer" (Free full text). Cancer ...
https://en.wikipedia.org/wiki/Keratolytic_winter_erythema
Hypotrichosis with juvenile macular dystrophyHypotrichosis with juvenile macular dystrophy
It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known ... The macular degeneration comes on slowly with deterioration of central vision, leading to a loss of reading ability. Those ...
https://en.wikipedia.org/wiki/Hypotrichosis_with_juvenile_macular_dystrophy
AIM1AIM1
Millikin D, Meese E, Vogelstein B, Witkowski C, Trent J (Nov 1991). "Loss of heterozygosity for loci on the long arm of ...
https://en.wikipedia.org/wiki/AIM1
BaijiBaiji
... habitat loss, and pollution. Further studies have noted that a lack of information on the baiji's historical distribution or ... that the decrease in the rate of molecular evolution in the baiji was not as great as the decrease in heterozygosity rate, it ... that the declining geographical range that baiji have been spotted in is not connected to the population loss of baiji. A model ...
https://en.wikipedia.org/wiki/Baiji
Mir-22Mir-22
The gene encoding miR-22 is found on the short arm of chromosome 17, in a minimal loss of heterozygosity region. It is highly ...
https://en.wikipedia.org/wiki/Mir-22
PTPRKPTPRK
Assem and colleagues identified loss of heterozygosity (LOH) events in malignant glioma specimens, and identified PTPRK as a ...
https://en.wikipedia.org/wiki/PTPRK
CYLD cutaneous syndromeCYLD cutaneous syndrome
... see loss of heterozygosity) that is restricted to their CCS tumor cells. The lose of both CYLD genes in hair follicle stem ... The loss of CYLD protein's regulation of NF-κB signaling may be a critical contributor to the development of CCS tumors. A wide ...
https://en.wikipedia.org/wiki/CYLD_cutaneous_syndrome
Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyCongenital adrenal hyperplasia due to 21-hydroxylase deficiency
Urinary sodium concentrations may exceed 50 mEq/L. With this rate of salt loss, the infant cannot maintain blood volume, and ... It is now possible to test for heterozygosity by measuring 17α-hydroxyprogesterone elevation after ACTH stimulation, or more ... As a consequence, average height losses of about 4 inches (10 cm) have been reported with traditional management.[citation ... the lack of aldosterone results in a high rate of sodium loss in the urine. ...
https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
INTS6INTS6
In addition, this gene is a candidate tumor suppressor and located in the critical region of loss of heterozygosity (LOH). ... 2003). "Allelic loss on chromosome 13q14 and mutation in deleted in cancer 1 gene in esophageal squamous cell carcinoma". ...
https://en.wikipedia.org/wiki/INTS6
Limousin cattleLimousin cattle
Loss of hybrid vigour occurs and phenotype varies greatly in subsequent generations if F1 hybrids are interbred or backcrossed ... If heterozygosity is maintained or increased as a result, hybrid vigour and other production benefits occurring in the F1 ... In the latter case, loss of the F94L variant will arise when grading up to purebred when base animals are not Limousins. Of the ... Maintenance of heterozygosity is the key to maintaining the highest levels of hybrid vigour. This requires complex breeding ...
https://en.wikipedia.org/wiki/Limousin_cattle
Collagen, type XVII, alpha 1Collagen, type XVII, alpha 1
1996). "Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type ... Clinical hallmarks, in addition to blisters and erosions of the skin and mucous membranes, include nail dystrophy, loss of hair ...
https://en.wikipedia.org/wiki/Collagen,_type_XVII,_alpha_1
T-cadherinT-cadherin
1998). "Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics ... T-cadherin loss in tumor cells is associated with tumor malignancy, invasiveness and metastasis. Thus, tumor progression in ... 2002). "Loss of T-cadherin (CDH13, H-cadherin) expression in cutaneous squamous cell carcinoma". Lab. Invest. 82 (8): 1023-9. ... In primary lung tumors the loss of T-cadherin was not attributed to the presence of metastasis in lymph nodes, and in ...
https://en.wikipedia.org/wiki/T-cadherin
DLC1DLC1
The loss of heterozygosity of DLC1 results when one copy of the gene is deleted or inactivated, but because of the presence of ... In HCC, loss of DLC1 decreases focal adhesion turnover and allows cells to detach from primary tumors. In breast cancers, loss ... within a region that frequently undergoes loss of heterozygosity by either genomic deletion or epigenetic silencing mechanisms ... DLC1 is also involved in the formation of focal adhesions, so loss of DLC1 leads to reduced cell adhesion and increased ...
https://en.wikipedia.org/wiki/DLC1
Nelsons syndromeNelson's syndrome
Heterozygosity loss in the glucocorticoid receptor can occur in the tumors present from Nelson's syndrome. Overall, not all ... The severity of the disease is dependent upon the effect of ACTH release on the skin, pituitary hormone loss from mass ... Hyper-pigmentation, hyporeflexia, and loss of vision can also indicate Nelson's syndrome when assessed together. Specifically ... In patients with pre-existing adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas, loss of adrenal feedback ...
https://en.wikipedia.org/wiki/Nelson's_syndrome
Bombus hortorumBombus hortorum
Due to their localized lifestyle and the destruction and loss of grassland habitats, Bombus hortorum populations are expected ... bombi as compared to Bombus populations with high levels of heterozygosity. Furthermore, the host genotype may affect the ...
https://en.wikipedia.org/wiki/Bombus_hortorum
Jay TischfieldJay Tischfield
Another research area is focused on loss of heterozygosity, a side effect of DNA-repair and recombination. Via this mechanism, ...
https://en.wikipedia.org/wiki/Jay_Tischfield
Mir-26 microRNA precursor familyMir-26 microRNA precursor family
PTEN repression in a murine glioma model both enhances de novo tumor formation and precludes loss of heterozygosity and the ... a genomic event strongly associated with monoallelic PTEN loss.miR-26a-mediated ...
https://en.wikipedia.org/wiki/Mir-26_microRNA_precursor_family
Myosin binding protein C, cardiacMyosin binding protein C, cardiac
Ultrastructural examination revealed a loss of lateral alignment of adjacent myofibrils with their Z-lines misaligned. cMyBP-C ... "Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a ...
https://en.wikipedia.org/wiki/Myosin_binding_protein_C,_cardiac
Medical Science Monitor | Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA...Medical Science Monitor | Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA...
... including loss of heterozygosity (LOH) on chromosome 3, have been associated with primary lungcancer. To further define the ... locus of chromosome 3p allele loss in lung cancer, we performed LOH studyby using innovative laser capture microdissection and ... Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA fragment analysis techniques. ...
https://medscimonit.com/abstract/metrics/idArt/420892
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arraysLoss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays
Loss of heterozygosity (LOH) of chromosomal regions bearing mutated tumor suppressor genes is a key event in the evolution of ... Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays Nat Biotechnol. 2000 ... Loss of heterozygosity (LOH) of chromosomal regions bearing mutated tumor suppressor genes is a key event in the evolution of ...
https://pubmed.ncbi.nlm.nih.gov/10973224/
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. | Broad InstituteLoss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. | Broad Institute
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.. ... Hundreds to thousands of non-driver genes undergo loss of heterozygosity (LOH) events per tumor, generating discrete ...
https://www.broadinstitute.org/publications/broad630066
Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability. | Journal...Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability. | Journal...
Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability. ... Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability. ...
https://jcp.bmj.com/content/52/7/504.responses
Single nucleotide polymorphism-based genome-wide chromosome copy change, loss of heterozygosity, and aneuploidy in barrett's...
Chromosome copy gain, loss, and loss of heterozygosity (LOH) involving most chromosomes have been reported in many cancers; ... N2 - Chromosome copy gain, loss, and loss of heterozygosity (LOH) involving most chromosomes have been reported in many cancers ... AB - Chromosome copy gain, loss, and loss of heterozygosity (LOH) involving most chromosomes have been reported in many cancers ... abstract = "Chromosome copy gain, loss, and loss of heterozygosity (LOH) involving most chromosomes have been reported in many ...
https://asu.pure.elsevier.com/en/publications/single-nucleotide-polymorphism-based-genome-wide-chromosome-copy-
Resultat #2053974 - Prognostic Significance of the Loss of Heterozygosity of KRAS in Early-Stage Lung Adenocarcinoma - Cristin Resultat #2053974 - Prognostic Significance of the Loss of Heterozygosity of KRAS in Early-Stage Lung Adenocarcinoma - Cristin
Prognostic Significance of the Loss of Heterozygosity of KRAS in Early-Stage Lung Adenocarcinoma ... Prognostic Significance of the Loss of Heterozygosity of KRAS in Early-Stage Lung Adenocarcinoma ...
https://app.cristin.no/results/show.jsf?id=2053974
Loss of Heterozygosity | Profiles RNS
"Loss of Heterozygosity" by people in this website by year, and whether "Loss of Heterozygosity" was a major or minor topic of ... "Loss of Heterozygosity" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... A mutant allele of the transcription factor IIH helicase gene, RAD3, promotes loss of heterozygosity in response to a DNA ... The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, ...
https://profiles.jefferson.edu/display/24011
Genome-wide analyses on loss of heterozygosity in head and neck squamous cell carcinomas<...
Genome-wide analyses on loss of heterozygosity in head and neck squamous cell carcinomas. / Beder, Levent Bekir; Gunduz, Mehmet ... Genome-wide analyses on loss of heterozygosity in head and neck squamous cell carcinomas. Laboratory Investigation. 2003 Jan 1; ... Genome-wide analyses on loss of heterozygosity in head and neck squamous cell carcinomas. In: Laboratory Investigation. 2003 ; ... Dive into the research topics of Genome-wide analyses on loss of heterozygosity in head and neck squamous cell carcinomas. ...
https://okayama.pure.elsevier.com/en/publications/genome-wide-analyses-on-loss-of-heterozygosity-in-head-and-neck-s
The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer<...
The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer. In: ... The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer. ... The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer. / ... The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer. ...
https://augusta.pure.elsevier.com/en/publications/the-loss-of-heterozygosity-in-retinoblastoma-and-p53-suppressor-g
Colon Cancer Workup: Approach Considerations, Blood Studies, Imaging StudiesColon Cancer Workup: Approach Considerations, Blood Studies, Imaging Studies
18q loss of heterozygosity in microsatellite stable colorectal cancer is correlated with CpG island methylator phenotype- ...
https://www.medscape.com/answers/277496-92283/what-drives-further-workup-following-a-colon-cancer-diagnosis
Lack of association between denture trauma and loss of heterozygosity confronts the proposed pathologic role of chronic mucosal...Lack of association between denture trauma and loss of heterozygosity confronts the proposed pathologic role of chronic mucosal...
Lack of association between denture trauma and loss of heterozygosity confronts the proposed pathologic role of chronic mucosal ... like loss of heterozygosity (LOH). We investigated LOH in the key chromosomal arms 3p, 9p and 17p in inflammatory fibrous ...
https://pesquisa.bvsalud.org/odontologia/resource/pt/mdl-30849196
Mutation - WikipediaMutation - Wikipedia
Loss of heterozygosity: loss of one allele, either by a deletion or a genetic recombination event, in an organism that ... See also: Carcinogenesis and Loss of heterozygosity. A change in the genetic structure that is not inherited from a parent, and ... Cells with heterozygous loss-of-function mutations (one good copy of gene and one mutated copy) may function normally with the ... Loss-of-function mutations, also called inactivating mutations, result in the gene product having less or no function (being ...
https://en.wikipedia.org/wiki/Genetic_mutation
Frontiers | Tumor Hypoxia Drives Genomic InstabilityFrontiers | Tumor Hypoxia Drives Genomic Instability
Failure in repair of damaged DSBs can result in chromosomal instability such as aneuploidy, deletions (loss of heterozygosity ... Chan, N., and Bristow, R. G. (2010). "Contextual" synthetic lethality and/or loss of heterozygosity: tumor hypoxia and ... thus resulting in a contextual loss of heterozygosity, which facilitates tumor aggressiveness. If this is the case, hypoxic ... The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large ...
https://www.frontiersin.org/articles/10.3389/fcell.2021.626229/full
A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of heterozygosity at chromosome 5 to...
A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of heterozygosity at chromosome 5 to ... A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of heterozygosity at chromosome 5 to ... A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of heterozygosity at chromosome 5 to ... A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of heterozygosity at chromosome 5 to ...
https://creighton.pure.elsevier.com/en/publications/a-mutation-in-tac1p-a-transcription-factor-regulating-cdr1-and-cd
Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and...Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and...
Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and ...
https://repository.ubn.ru.nl/handle/2066/266017
Analysis of p16 expression and allelic imbalance/loss of heterozygosity of 9p21 in cutaneous squamous cell carcinomas<...
Gray, S. E., Kay, E., Leader, M., & Mabruk, M. (2006). Analysis of p16 expression and allelic imbalance/loss of heterozygosity ... Gray, SE, Kay, E, Leader, M & Mabruk, M 2006, Analysis of p16 expression and allelic imbalance/loss of heterozygosity of 9p21 ... Analysis of p16 expression and allelic imbalance/loss of heterozygosity of 9p21 in cutaneous squamous cell carcinomas. Journal ... Analysis of p16 expression and allelic imbalance/loss of heterozygosity of 9p21 in cutaneous squamous cell carcinomas. In: ...
https://squ.pure.elsevier.com/en/publications/analysis-of-p16-expression-and-allelic-imbalanceloss-of-heterozyg
Comparative genome anatomy reveals evolutionary insights into a unique amphitriploid fish | Nature Ecology & EvolutionComparative genome anatomy reveals evolutionary insights into a unique amphitriploid fish | Nature Ecology & Evolution
a, Heterozygosity ratio per megabase (MB) in different individuals. b, Distribution of loss-of-function (LOF) mutations per MB ... we conducted a four-generation breeding experiment for 5 years and tested whether loss of heterozygosity (LOH) occurred in the ... Clonal polymorphism and high heterozygosity in the celibate genome of the Amazon molly. Nat. Ecol. Evol. 2, 669-679 (2018). ... Birky, C. W. Heterozygosity, heteromorphy, and phylogenetic trees in asexual eukaryotes. Genetics 144, 427-437 (1996). ...
https://www.nature.com/articles/s41559-022-01813-z?utm_source=xmol&utm_medium=affiliate&utm_content=meta&utm_campaign=DDCN_1_GL01_metadata&error=cookies_not_supported&code=85cf6a8d-a7f6-4dcc-979a-fd154b1d993c
GNMT gene: MedlinePlus GeneticsGNMT gene: MedlinePlus Genetics
Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer. Clin Cancer Res. ...
https://medlineplus.gov/genetics/gene/gnmt/
Talking Glossary of Genetic Terms | NHGRITalking Glossary of Genetic Terms | NHGRI
LOH (Loss of Heterozygosity). LOH (short for " loss of heterozygosity ") refers to a type of mutation that results in the loss ... A deletion, as related to genomics, is a type of mutation that involves the loss of one or more nucleotides from a segment of ... A deletion can involve the loss of any number of nucleotides, from a single nucleotide to an entire piece of a chromosome. MORE ... Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be ...
https://www.genome.gov/genetics-glossary
Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)
Categories: Loss of Heterozygosity Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
https://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Loss+of+Heterozygosity&parentid=38299&catid=35645
Baby’s Pregnancy CalendarBaby’s Pregnancy Calendar
But, if the survivor is nicely insulated and shielded from further warmth loss, metabolic warmth produced by his own shivering ... Risk of neoplastic and different ailments among individuals with heterozygosity for hereditary hemochromatosis. It is our ... A careful household history should embody Less frequent questions about hematuria, listening to loss, hyper- Alport nephritis ... loss of gingiva and bone; and irregular or painful strive various residence oral hygiene instruments or preventive care methods ...
https://www.ehd.org/pregnancy-calendar/calendar.php?id=14354&comment_sort=&comment_p=1068
Overcoming Resistance to BRAF and MEK Inhibitors by Simultaneous Suppression of CDK4 | IntechOpenOvercoming Resistance to BRAF and MEK Inhibitors by Simultaneous Suppression of CDK4 | IntechOpen
deletion show mutations with loss of heterozygosity (LOH), and p16 expression inversely correlates with levels of INK4A. ... Funk, J.O., et al., p16INK4a expression is frequently decreased and associated with 9p21 loss of heterozygosity in sporadic ... T1799A mutation and loss of wild-type INK4A. [1, 61]. Cells were treated, alone or in combination, with MEK inhibitor PD98059 ( ... Loss of p16 by genetic and epigenetic changes allows activation of cyclin D/CDK4 and inactivation of RB, leading to E2F ...
https://www.intechopen.com/chapters/42240
Publications | CrickPublications | Crick
Frequent loss-of-heterozygosity in CRISPR-Cas9-edited. early human embryos. Authors (10)*Gregorio Alanis Lobato ...
https://www.crick.ac.uk/research/publications?f%5B0%5D=research_groups_latest_pub%3A186&f%5B1%5D=topic%3A16
DICER1 Tumor Predisposition - GeneReviews® - NCBI BookshelfDICER1 Tumor Predisposition - GeneReviews® - NCBI Bookshelf
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet. 2012;49:417-9. [PubMed: ... confirming that DICER1 functions as a two-hit tumor suppressor and loss of DICER1 protein leads to loss of miRNAs important in ... Loss-of-function germline pathogenic variants in DICER1 coupled with somatic missense pathogenic variants in particular amino ... Mechanism of disease causation. DICER1 tumor predisposition (DICER1) occurs through a loss-of-function mechanism that requires ...
https://www.ncbi.nlm.nih.gov/books/NBK196157/
Gene expression patterns in heterozygous Plk4 murine embryonic fibroblasts | BMC Genomics | Full TextGene expression patterns in heterozygous Plk4 murine embryonic fibroblasts | BMC Genomics | Full Text
Plk4 haploinsufficiency and loss of heterozygosity have also been implicated in the development of primary hepatocellular ... depletion via epigenetic silencing or loss of heterozygosity (LOH) has implicated them in the development of centrosome ... Plk4 loss also has implications in human malignancy, where LOH for Plk4 was found in the majority of a small sample of ...
https://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2164-10-319
Medical Science Monitor | Computed Tomographic Studies of Noncalcified Nodules Related to Neuroendocrine Lung Tumor Using...Medical Science Monitor | Computed Tomographic Studies of Noncalcified Nodules Related to Neuroendocrine Lung Tumor Using...
Neuroendocrine Carcinoma of the Kidney and Bladder with Loss of Heterozygosity and Changes in Chromosome 3 Copy Number Atsushi ...
https://medscimonit.com/abstract/related/idArt/908545
Copy-neutral loss of heterozygosAllelic LossGenesCompound heterozygosityChromosomesTumorChromosomalSingle-nucleotide polymorpAlterationsLaser capture microdiGenome-wideAlleleRecombinationDescriptorVariantLocusGenomicPairPatientsHumanChronicDeletionPotentialRegionExpressionMultipleMethodsHigh
Copy-neutral loss of heterozygos1
  • Copy number alterations and copy-neutral loss of heterozygosity in Ukrainian patients with primary myelofibrosis. (cdc.gov)
Allelic Loss2
  • 1999) A novel chromosomal region of allelic loss, 4q32-q34, in human osteosarcomas revealed by representational difference analysis. (scirp.org)
  • For several human tumour types, allelic loss data suggest that one or more tumour suppressor genes reside telomerlc to the p53 gene at chromosome 17p13.1. (elsevier.com)
Genes6
  • Loss of heterozygosity (LOH) of chromosomal regions bearing mutated tumor suppressor genes is a key event in the evolution of epithelial and mesenchymal tumors. (nih.gov)
  • Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. (broadinstitute.org)
  • Hundreds to thousands of non-driver genes undergo loss of heterozygosity (LOH) events per tumor, generating discrete differences between tumor and normal cells. (broadinstitute.org)
  • Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability. (bmj.com)
  • Without loss of generality, we consider whether some specific biological categories are enriched for differentially expressed genes with respect to the reference genes. (biomedcentral.com)
  • Predictive and prognostic significance of loss of heterozygosity in ABC transporter genes in breast cancer. (wjgnet.com)
Compound heterozygosity1
  • Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity. (lovd.nl)
Chromosomes3
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
  • Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
  • Distinct structural abnormalities of chromosomes 11 and 12 associated with loss of heterozygosity in X-ray-induced mouse thymic lymphomas. (go.jp)
Tumor3
  • Loss of heterozygosity may lead to tumor formation. (medscape.com)
  • IMSEAR at SEARO: High frequency of loss of allelic integrity at Wilms' tumor suppressor gene-1 locus in advanced breast tumors associated with aggressiveness of the tumor. (who.int)
  • In the present study, WT1 allelic integrity was examined by Loss of Heterozygosity (LOH) studies in infiltrating breast carcinoma (n=60), ductal carcinoma in situ (DCIS) (n=10) and benign breast disease (n=5) patients, to determine its possible association with tumor progression. (who.int)
Chromosomal4
  • With the exception of 9p LOH, most copy gains, losses, and LOH detected in early stages of BE were smaller than those detected in later stages, and few chromosomal events were common in all stages of progression. (elsevier.com)
  • Deregulation of the Plks by overexpression, depletion via epigenetic silencing or loss of heterozygosity (LOH) has implicated them in the development of centrosome abnormalities and has been associated with a CIN (chromosomal instability) phenotype and malignancy. (biomedcentral.com)
  • Besides multiple gains and losses, the grade II meningioma harbored numerous chromosomal translocations. (biomedcentral.com)
  • Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma. (cdc.gov)
Single-nucleotide polymorp1
  • The mechanisms by which hyperactive alleles become homozygous was addressed by comparative genome hybridization and single nucleotide polymorphism arrays and indicated that loss of TAC1 heterozygosity can occur by recombination between portions of chromosome 5 or by chromosome 5 duplication. (elsevier.com)
Alterations1
  • If chronic trauma of the oral mucosa is carcinogenic, it should be associated with early genetic alterations seen during typical progression of OSCC, like loss of heterozygosity (LOH). (bvsalud.org)
Laser capture microdi1
  • Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA fragment analysis techniques. (medscimonit.com)
Genome-wide1
  • We therefore performed comprehensive analyses on loss of heterozygosity (LOH) using a genome-wide panel of 191 microsatellite markers in 22 HNSCC samples. (elsevier.com)
Allele3
  • Navarro MS, Bi L, Bailis AM. A mutant allele of the transcription factor IIH helicase gene, RAD3, promotes loss of heterozygosity in response to a DNA replication defect in Saccharomyces cerevisiae. (jefferson.edu)
  • A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. (umassmed.edu)
  • Results: Six of 22 (27.2%) genetically heterozygous of infiltrating breast carcinoma and 1 of 4 DCIS cases showed loss of one allele at WT1 locus. (who.int)
Recombination1
  • This life style ensures preservation of heterozygosity throughout its genome and may enable the species to adapt to its environment and survive with only minimal levels of rare meiotic recombination. (biomedcentral.com)
Descriptor1
  • Loss of Heterozygosity" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
Variant2
  • The diagnosis of DICER1 is established by identification of a heterozygous germline DICER1 pathogenic variant that is known or suspected to cause loss of function. (nih.gov)
  • A positive result is indicative of a pathogenic or likely pathogenic variant(s) in BRCA1 and/or BRCA2 or high Genomic Scar Score (LOH + LST) which consists of genomic Loss of Heterozygozity (gLOH) + Large-scale State Transitions (LST). (carislifesciences.com)
Locus1
  • Pérdida de un alelo en un locus específico, causada por deleción o por pérdida de uno de los cromosomas de un par, resultando una HEMICIGOSIDAD anormal. (bvsalud.org)
Genomic1
  • It is important to verify HRD-related genomic scarring, such as genomic Loss of Heterozygosity (gLOH) and Large-scale State Transitions (LST), in order to best inform treatment. (carislifesciences.com)
Pair1
  • or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. (jefferson.edu)
Patients1
  • All patients should have loss of heterozygosity of ATM and/or immunohistochemistry evidence of loss of ATM protein. (medpagetoday.com)
Human1
  • 2. Happle R. Loss of heterozygosity in human skin. (cdlib.org)
Chronic1
  • Lack of association between denture trauma and loss of heterozygosity confronts the proposed pathologic role of chronic mucosal trauma in oral carcinogenesis. (bvsalud.org)
Deletion1
  • Somatic changes were evident in approximately 70% of ovarian tumours, the most common being a deletion or reduction in intensity of a band suggesting loss of heterozygosity. (edu.au)
Potential2
  • Loss of heterozygosity: a potential tool in management of oral premalignant lesions? (bvsalud.org)
  • This research uses standard measures to quantify actual or potential losses that populations may experience due to the presence of diseases and injuries. (cdc.gov)
Region1
  • In this study twenty-two paraffin embedded invasive cutaneous SCC were examined for allelic imbalance/loss of heterozygosity (AL/LOH) of the 9p region (in particular 9p21), and for p16 protein expression. (elsevier.com)
Expression1
  • Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer. (medlineplus.gov)
Multiple1
  • In many cancers loss of heterozygosity (LOH) at multiple loci is associated with decreased survival. (elsevier.com)
Methods1
  • He invented molecular methods to detect loss of heterozygosity in tiny biopsies, triggering an avalanche of research on precancerous lesions. (hopkinsmedicine.org)
High1
  • Although the HR pathway has high accuracy, it often leads to loss of heterozygosity (LOH). (frontiersin.org)
Colon Cancer Workup: Approach Considerations, Blood Studies, Imaging Studies
Colon Cancer Workup: Approach Considerations, Blood Studies, Imaging Studies (medscape.com)
Gigantism and Acromegaly: Practice Essentials, Background, Pathophysiology and Etiology
Gigantism and Acromegaly: Practice Essentials, Background, Pathophysiology and Etiology (medscape.com)
Frontiers | Tumor Hypoxia Drives Genomic Instability
Frontiers | Tumor Hypoxia Drives Genomic Instability (frontiersin.org)
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. | Broad Institute
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. | Broad Institute (broadinstitute.org)
(emedicine.medscape.com)
Comparative genome anatomy reveals evolutionary insights into a unique amphitriploid fish | Nature Ecology & Evolution
Comparative genome anatomy reveals evolutionary insights into a unique amphitriploid fish | Nature Ecology & Evolution (nature.com)
Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology
Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology (medscape.com)
Meningioma: Practice Essentials, Background, Pathophysiology
Meningioma: Practice Essentials, Background, Pathophysiology (medscape.com)
Meningioma Treatment & Management: Medical Care, Surgical Care, Consultations
Meningioma Treatment & Management: Medical Care, Surgical Care, Consultations (medscape.com)
Meningioma Workup: Imaging Studies, Procedures, Histologic Findings
Meningioma Workup: Imaging Studies, Procedures, Histologic Findings (medscape.com)
Pediatric Neuroblastoma: Practice Essentials, Pathophysiology, Etiology
Pediatric Neuroblastoma: Practice Essentials, Pathophysiology, Etiology (medscape.com)
GNMT gene: MedlinePlus Genetics
GNMT gene: MedlinePlus Genetics (medlineplus.gov)
Publications | Crick
Publications | Crick (crick.ac.uk)
DICER1 Tumor Predisposition - GeneReviews® - NCBI Bookshelf
DICER1 Tumor Predisposition - GeneReviews® - NCBI Bookshelf (ncbi.nlm.nih.gov)
Meningioma Clinical Presentation: History, Physical, Causes
Meningioma Clinical Presentation: History, Physical, Causes (emedicine.medscape.com)
Homologous recombination in DNA repair and DNA damage tolerance | Cell Research
Homologous recombination in DNA repair and DNA damage tolerance | Cell Research (nature.com)
Gene expression patterns in heterozygous Plk4 murine embryonic fibroblasts | BMC Genomics | Full Text
Gene expression patterns in heterozygous Plk4 murine embryonic fibroblasts | BMC Genomics | Full Text (bmcgenomics.biomedcentral.com)
Detecting the mutational signature of homologous recombination deficiency in clinical samples | Nature Genetics
Detecting the mutational signature of homologous recombination deficiency in clinical samples | Nature Genetics (nature.com)
Hurthle Cell Carcinoma (Oncocytic Carcinoma): Practice Essentials, Pathophysiology, Etiology
Hurthle Cell Carcinoma (Oncocytic Carcinoma): Practice Essentials, Pathophysiology, Etiology (medscape.com)
Bloom Syndrome (Congenital Telangiectatic Erythema) Treatment & Management: Medical Care, Surgical Care, Consultations
Bloom Syndrome (Congenital Telangiectatic Erythema) Treatment & Management: Medical Care, Surgical Care, Consultations (medscape.com)
Clonal Population of Flucytosine-Resistant Candida tropicalis from Blood Cultures, Paris, France - Volume 14, Number 4-April...
Clonal Population of Flucytosine-Resistant Candida tropicalis from Blood Cultures, Paris, France - Volume 14, Number 4-April... (wwwnc.cdc.gov)
Early Detection and Screening of Lung Cancer
Early Detection and Screening of Lung Cancer (medscape.com)
HE4 as a Biomarker for Ovarian and Endometrial Cancer Management
HE4 as a Biomarker for Ovarian and Endometrial Cancer Management (medscape.com)