• Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Several other mutations in the DSC2 gene cause ARVC without palmoplantar keratoderma or woolly hair. (medlineplus.gov)
  • It is unclear why some mutations in this gene affect the skin and hair, while others do not. (medlineplus.gov)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (medlineplus.gov)
  • ALK fusion and its association with other driver gene mutations in Finnish non-small cell lung cancer patients. (genomeweb.com)
  • At least 50 mutations in the TCF4 gene have been found to cause Pitt-Hopkins syndrome, a condition characterized by severe intellectual disability and breathing problems. (medlineplus.gov)
  • Some mutations delete a few building blocks of DNA (nucleotides) within the TCF4 gene, while other mutations delete the TCF4 gene as well as a number of genes that surround it. (medlineplus.gov)
  • Still other TCF4 gene mutations replace single nucleotides. (medlineplus.gov)
  • TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. (medlineplus.gov)
  • These gene mutations typically do not affect the TCF4 protein's ability to bind to other proteins. (medlineplus.gov)
  • Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. (nih.gov)
  • Some people inherit genetic disorders from their parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. (medicinenet.com)
  • Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. (medicinenet.com)
  • Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. (medicinenet.com)
  • We looked for four genetic alterations (ras-gene mutations and allelic deletions of chromosomes 5, 17, and 18) in 172 colorectal-tumor specimens representing various stages of neoplastic development. (nih.gov)
  • We found that ras-gene mutations occurred in 58 percent of adenomas larger than 1 cm and in 47 percent of carcinomas. (nih.gov)
  • Several skeletal dysplasias in specific dog breeds have been associated with mutations in members of the collagen gene family or its binding proteins ( 8 - 10 ), fibrilin related protein ( 11 ), as well as an altered sulfate transporter protein ( 12 ). (frontiersin.org)
  • Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
  • The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
  • Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
  • Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. (lu.se)
  • Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. (lu.se)
  • However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT. (lu.se)
  • Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)
  • 90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)
  • The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18. (medlineplus.gov)
  • Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (medlineplus.gov)
  • The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. (medlineplus.gov)
  • The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. (medlineplus.gov)
  • The term "proximal" means that in this disorder the deletion occurs near the center of the chromosome, in an area between regions called 18q11.2 and 18q21.2. (medlineplus.gov)
  • Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals, depending on which genes in this part of chromosome 18 are affected. (medlineplus.gov)
  • People with this disorder whose deletions include the TCF4 gene usually have signs and symptoms of Pitt-Hopkins syndrome (described above) in addition to other features of distal 18q deletion syndrome that are likely associated with the loss of nearby genes. (medlineplus.gov)
  • We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)
  • Studies suggest this is a tumor suppressor gene . (wikipedia.org)
  • Such a segment in the tumor genome may harbor either oncogenes or tumor suppressor genes depending on whether they are present in increased or decreased copy number, respectively. (biomedcentral.com)
  • RESULTS: Of the 24 consecutive patients treated with IORT during tumor resection included, 18 (75%) patients were diagnosed with BMs while 6 (25%) had newly-diagnosed glioblastoma. (bvsalud.org)
  • Major tumor DNA alterations occurred in chromosome 8, 13, 18 and 20, where short survival included gain in 8q and loss in 8p. (lu.se)
  • Copy number gains related to tumor progression were most common on chromosome 7, 8, 19, 20, while corresponding major losses appeared in chromosome 8. (lu.se)
  • Mathematical Vector analysis implied a number of BAC-clones in tumor DNA with genes of potential importance for death or survival. (lu.se)
  • Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (medlineplus.gov)
  • This condition is known as mosaic trisomy 18. (medlineplus.gov)
  • Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. (medlineplus.gov)
  • Partial trisomy 18 occurs when part of the q arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)
  • If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. (medlineplus.gov)
  • For example, Down syndrome (sometimes referred to as ' Down's syndrome ') or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. (medicinenet.com)
  • The most common trisomy in a newborn is trisomy 21 (three copies of chromosome 21, which is the smallest human chromosome). (merckmanuals.com)
  • For example, the research team discovered a region on mouse chromosome 18 that was associated with altered amounts of fat in the liver. (medicalxpress.com)
  • 3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)
  • Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. (lu.se)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Chromosome 18 is one of the 23 pairs of chromosomes in humans. (wikipedia.org)
  • EGR-1 (Early growth response protein 1) also known as ZNF268 (zinc finger protein 268) or NGFI-A (nerve growth factor-induced protein A) is a protein that in humans is encoded by the EGR1 gene . (wikipedia.org)
  • Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
  • Researchers have discovered new genes that are responsible for the production of regulatory proteins of the immune-associated GTPase family in humans and mice, respectively, which counteract the accumulation of fat in the liver and thus contribute to the prevention of fatty liver. (medicalxpress.com)
  • In humans and mice, respectively, the genes IRGM, Ifgga2 and Ifgga4 are responsible for the production of regulatory proteins of the family of immunity-related GTPases which counteract fat accumulation in the liver. (medicalxpress.com)
  • In humans and mice, these genes produce regulatory proteins from the family of immunity-related GTPases that counteract fat accumulation in the liver. (medicalxpress.com)
  • If the genes Ifgga2 and Ifgga4 are expressed, proteins of the family of immunity-related GTPases are formed-in the mouse the proteins IFGGA2 and IFGGA4 and in humans the protein IRGM. (medicalxpress.com)
  • The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine. (nih.gov)
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • From NCBI Gene: This gene encodes a member of the desmoglein protein subfamily. (nih.gov)
  • The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
  • 4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
  • It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)
  • This summary discusses chromosome 15q14 deletions and the loss of the MEIS2 gene. (chromodisorder.org)
  • 15q14 deletions (deletions occurring within this region of the long arm of chromosome 15) are known to cause cleft palate, intellectual disability, congenital heart defects, and facial dysmorphism. (chromodisorder.org)
  • Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. (medlineplus.gov)
  • Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (merckmanuals.com)
  • Down syndrome is caused by an extra chromosome 21. (merckmanuals.com)
  • After birth, the diagnosis is suggested by the child's physical appearance and is confirmed by finding an extra chromosome 21, usually by testing a blood sample. (merckmanuals.com)
  • About 3% of people with Down syndrome have 46 chromosomes, but the extra chromosome 21 is incorrectly joined with another chromosome (called translocation), creating an abnormal, but not extra, chromosome. (merckmanuals.com)
  • Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. (medlineplus.gov)
  • Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. (medicinenet.com)
  • High-risk types (e.g., types 16 and 18) can cause low-grade cervical cell abnormalities, high-grade cervical cell abnormalities that are precursors to cancer, and cancers ( 5 - 7 ). (cdc.gov)
  • Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3. (medscape.com)
  • The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q. (medscape.com)
  • A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. (medscape.com)
  • Visitors to the website are encouraged to explore the intricacies of the most complex blood group gene locus. (karger.com)
  • Using molecular markers and statistical methods-quantitative trait locus (QTL) analysis-genes that cause complex human diseases can be identified in mouse strains. (medicalxpress.com)
  • Several lines of evidence including disease breed predisposition, studies suggesting heritability of premature intervertebral disc degeneration (IVDD) and association of a dog chromosome 12 (CFA 12) locus with intervertebral disc calcification have strongly supported a genetic component in IVDD in dogs. (frontiersin.org)
  • The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
  • Adibalapravritta, chromosome at Xp21 locus. (who.int)
  • NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy. (genomeweb.com)
  • Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. (biomedcentral.com)
  • Linkage and comparative mapping studies indicate that the transferred chromosome segment contains a number of candidate genes for hypertension, including genes encoding a brain dopamine receptor and a renal epithelial potassium channel. (jci.org)
  • Researchers are working to determine how the loss of specific genes in this region contributes to the various features of the disorder. (medlineplus.gov)
  • Assessment of the effect of age at onset on linkage to bipolar disorder: evidence on chromosomes 18p and 21q. (medscape.com)
  • Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
  • Children with the disorder may meet age-appropriate milestones gene mutation, but the same gene mutation in Rett syndrome for the first 6 to 18 months before they start showing symptoms. (medlineplus.gov)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • Concentration on these parts of the genome should help in the identification of the site of the VRNF gene. (bmj.com)
  • Following F ST and two extended haplotype homozygosity-based ( iHS and Rsb ) analyses 24 candidate genome regions within 14 autosomes and the X chromosome were revealed, in which 18 and 4 were previously identified in tropical-adapted and commercial breeds, respectively. (nature.com)
  • Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. (medlineplus.gov)
  • At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. (medlineplus.gov)
  • The known mutation, which is written as 1841delG, deletes one DNA building block (base pair) from the DSC2 gene. (medlineplus.gov)
  • Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. (genomeweb.com)
  • Clinical activity of FOLFIRI plus cetuximab according to extended gene mutation status by next generation sequencing: findings from the CAPRI-GOIM trial. (genomeweb.com)
  • Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. (genomeweb.com)
  • Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. (jax.org)
  • The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. (medicinenet.com)
  • The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
  • GES members with the MECP2 gene mutation. (medlineplus.gov)
  • Not everyone with a MECP2 gene mutation will develop doctors. (medlineplus.gov)
  • These genes are involved in various biological pathways (e.g. immunity, reproduction, development and heat tolerance). (nature.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
  • Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. (medlineplus.gov)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
  • As a result, each cell has four copies of the short arm of chromosome 18. (medlineplus.gov)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Polytene chromosomes are structures found in highly specialized tissues in some animal and plant species, which are amplified through successive cycles of endoreduplication, finally producing several copies of each chromosome. (scielo.br)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Genetic isolation of a region of chromosome 8 that exerts major effects on blood pressure and cardiac mass in the spontaneously hypertensive rat. (jci.org)
  • The Genetic Analysis Workshop 15 rheumatoid arthritis data included a set of 460 cases and 460 controls genotyped at 2300 closely spaced markers on a 10 megabase region of chromosome 18q. (biomedcentral.com)
  • 2006) it would be good if that future epidemiological studies of relationships between lead exposures and cancer should include evaluation of genetic susceptibility factors, such as the ALAD gene. (who.int)
  • PMID 21736789 ] A variant near the melanocortin-4 receptor gene regulates postprandial lipid metabolism in a healthy Caucasian population. (snpedia.com)
  • PMID 22869321 ] Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals. (snpedia.com)
  • In some cases, the extra copy of chromosome 18 is present in only some of the body's cells. (medlineplus.gov)
  • Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
  • The protein encoded by this gene belongs to the EGR family of Cys 2 His 2 -type zinc finger proteins. (wikipedia.org)
  • Quadrivalent HPV vaccine (HPV4) contains four HPV type-specific VLPs prepared from the L1 proteins of HPV 6, 11, 16, and 18. (cdc.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. (biomedcentral.com)
  • Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)
  • Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged. (medicinenet.com)
  • The TCF4 protein's inability to bind to DNA and control the activity of certain genes, particularly those genes involved in nervous system development and function, contributes to the signs and symptoms of Pitt-Hopkins syndrome. (medlineplus.gov)
  • Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS). (snpedia.com)
  • FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. (snpedia.com)
  • Thus, most people with Down syndrome have 47 chromosomes instead of the normal 46. (merckmanuals.com)
  • Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
  • methyl CpG binding protein 2) gene, which is located on The Rett Syndrome Research Trust supports clinical the X chromosome and contributes to brain development. (medlineplus.gov)
  • Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes. (genomeweb.com)
  • Genes Chromosomes Cancer. (genomeweb.com)
  • Cancer-related genes show racial differences. (biomedcentral.com)
  • In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. (biomedcentral.com)
  • Our study provides an invaluable database revealing common and differential imbalance regions at specific chromosomes among Asian and Caucasian lung cancer patients. (biomedcentral.com)
  • Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)
  • These results are consistent with a model of colorectal tumorigenesis in which the steps required for the development of cancer often involve the mutational activation of an oncogene coupled with the loss of several genes that normally suppress tumorigenesis. (nih.gov)
  • Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). (cancerindex.org)
  • Normal colon tissue from cancer patients displayed gains in chromosome 19 and 20. (lu.se)
  • Essentially all cervical cancers are attributable to high-risk HPV types ( 8 ), and approximately 70% of cervical cancer cases worldwide are caused by types 16 and 18 ( 9 ). (cdc.gov)
  • A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (who.int)
  • Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. (medscape.com)
  • The following are some of the gene count estimates of human chromosome 18. (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • The following is a partial list of genes on human chromosome 18. (wikipedia.org)
  • The human EGR-1 protein contains (in its unprocessed form) 543 amino acids with a molecular weight of 57.5 kDa , and the gene is located on the chromosome 5 . (wikipedia.org)
  • The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (medicinenet.com)
  • The long-term undifferentiation of molluscan sex chromosomes is potentially sustained by the unexpected intertwined regulation of reversible sex-biased genes, together with the lack of sexual dimorphism and occasional sex chromosome turnover. (nature.com)
  • The pleiotropic constraint of regulation of reversible sex-biased genes is widely present in ancient homomorphic sex chromosomes and might be resolved in heteromorphic sex chromosomes through gene duplication followed by subfunctionalization. (nature.com)
  • Regulation of bacterial virulence gene expression by the host environment. (jci.org)
  • Researchers have identified the chromosomes (11 and 18) that house the genes responsible for blood pressure regulation, although narrowing down the range of specific genes involved in hypertension is more difficult. (encyclopedia.com)
  • Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. (hindawi.com)
  • Increased risk of lymphoid neoplasms in patients with Philadelphia chromosome-negative myeloproliferative neoplasms. (who.int)
  • This haplotype was located less than 500 base pairs upstream of the CCBE1 gene. (biomedcentral.com)
  • The high penetrance of intervertebral disc disease (IVDD) associated genes in many popular dog breeds presents a daunting clinical challenge and results in millions, if not billions of dollars of annual veterinary treatment-related expense and suffering. (frontiersin.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • These elements are involved in control of gene expression which governs the phenotype and also plays role in disease biology. (researchgate.net)
  • This second volume of the Metabolic Pathway Engineering Handbook delves into evolutionary tools and gene expression tools for metabolic pathway engineering. (taylorfrancis.com)
  • Expression of this gene is induced by TGFBR1. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • However, for this complex disease not only one gene but rather the interactions of different genes and epigenetic factors are responsible. (medicalxpress.com)
  • The endomitotic cycle (endomitosis) starts with a normal prophase (endoprophase), after which the chromosome contracts further (endometaphase), their sister chromatids separate from each other (endoanaphase) and decondense to assume the interphase nuclear structure, resulting in polyploid cells, with double the chromosome number (endopolyploidy) at the end of each cycle. (scielo.br)
  • In the endoreduplication cycle, the chromatid number is duplicated, but they do not segregate, and after various endoreduplication cycles, larger and thicker chromosomes are produced, called polytenics. (scielo.br)
  • These signs and symptoms are likely caused by the loss of specific genes in the deleted region. (medlineplus.gov)
  • Alternative splicing of this gene results in multiple transcript variants. (nih.gov)
  • Several transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • Contrary to classic theory prediction, sex-chromosome homomorphy is prevalent in the animal kingdom but it is unclear how ancient homomorphic sex chromosomes avoid chromosome-scale degeneration. (nature.com)
  • The objectives of this research were to map SBR resistance in plant introduction (PI) 561356 and to identify single nucleotide polymorphism (SNP) haplotypes within the region on soybean chromosome 18 where the SBR resistance gene Rpp1 maps. (unl.edu)
  • The gene was mapped to a 1-cM region on soybean chromosome 18 corresponding to the same interval as Rpp1 . (unl.edu)
  • A haplotype analysis of diverse germplasm across a 213-kb interval that included Rpp1 revealed 21 distinct haplotypes of which 4 were present among 5 SBR resistance sources that have a resistance gene in the Rpp1 region. (unl.edu)
  • These findings demonstrate that BP regulatory gene(s) exist within the differential chromosome segment trapped in the SHR-Lx congenic strain and that this region of chromosome 8 plays a major role in the hypertension of SHR vs. BN-Lx rats. (jci.org)
  • A specific region of chromosome 18 was deleted frequently in carcinomas (73 percent) and in advanced adenomas (47 percent) but only occasionally in earlier-stage adenomas (11 to 13 percent). (nih.gov)
  • One of these studies involved a dense panel of 2300 single-nucleotide polymorphisms (SNPs) that were genotyped in cases and controls on a 10 megabase region of chromosome 18q. (biomedcentral.com)
  • Here, we profile eight genomes of the bivalve mollusc family of Pectinidae in a phylogenetic context and show 350 million years sex-chromosome homomorphy, which is the oldest known sex-chromosome homomorphy in the animal kingdom, far exceeding the ages of well-known heteromorphic sex chromosomes such as 130-200 million years in mammals, birds and flies. (nature.com)
  • The evolutionary dynamics of sex chromosomes suggest a mechanism for 'inheritance' turnover of sex-determining genes that is mediated by translocation of a sex-determining enhancer. (nature.com)
  • Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. (medicinenet.com)
  • The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. (nih.gov)
  • The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. (cancerindex.org)
  • The modal chromosome number was 66 occurring in 44% of cells. (atcc.org)
  • In plants, polytene chromosomes have been observed in only a few species, and seemed to be restricted to ovary and immature seed tissues, e.g., in Phaseolus coccineus and P. vulgaris (Nagl, 1981), until relatively recently, when they were observed in the cells of the anther tapetum of Vigna unguiculata (Guerra and Carvalheira, 1994) and of some Phaseolus species (Carvalheira and Guerra, 1994). (scielo.br)
  • DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (merckmanuals.com)