AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation ScienceNamed GroupsHealth Care
Chromosome MappingChromosomesChromosomes, Human, Pair 1Genetic LinkageChromosomes, Human, Pair 6Chromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosome BandingChromosomes, Human, Pair 7Chromosomes, Human, Pair 9Chromosomes, Human, Pair 2X ChromosomeChromosomes, Human, Pair 19Chromosomes, Human, Pair 10Chromosomes, Human, Pair 21Chromosome AberrationsChromosomes, Human, Pair 16Chromosomes, Human, Pair 4Chromosomes, Human, Pair 5Genetic MarkersChromosomes, Human, Pair 22Lod ScoreChromosomes, Human, Pair 13Chromosome DeletionChromosomes, Human, Pair 8Chromosomes, Human, Pair 20Chromosomes, Human, Pair 12Chromosomes, HumanPedigreeChromosomes, Human, Pair 15Chromosomes, Human, Pair 18Sex ChromosomesMolecular Sequence DataChromosomes, MammalianBase SequenceTranslocation, GeneticChromosomes, Human, Pair 14Chromosomes, PlantChromosomes, Human, 6-12 and XMicrosatellite RepeatsIn Situ Hybridization, FluorescenceChromosomes, BacterialAllelesChromosome SegregationChromosomes, Human, Pair 3Chromosome DisordersPhenotypeChromosomes, FungalChromosomes, Human, XKaryotypingGenotypeChromosomes, Artificial, YeastMutationHybrid CellsChromosomes, Artificial, BacterialHaplotypesGenetic Predisposition to DiseaseQuantitative Trait LociTuberous SclerosisGenes, Tumor SuppressorLoss of HeterozygosityCrosses, GeneticChromosomes, Human, 1-3Polymorphism, Single NucleotideChromosome PairingChromosome BreakageChromosomes, Human, YCloning, MolecularAmino Acid SequenceChromosome PaintingPolymerase Chain ReactionChromosomes, Human, 16-18HeterozygoteChromosomes, Human, 13-15Blotting, SouthernExonsPolymorphism, GeneticTumor Suppressor ProteinsGene DeletionChromosomes, Human, 21-22 and YGenes, DominantGenome, HumanSequence Analysis, DNARecombination, GeneticDNA Mutational AnalysisDNA, NeoplasmGenetic HeterogeneityGenes, RecessivePolymorphism, Restriction Fragment LengthLinkage DisequilibriumChromosome InversionNucleic Acid HybridizationRing ChromosomesHomozygoteGenesChromosomes, Human, 4-5Genome-Wide Association StudyDNAGenetic VariationChromosome Positioning
MutationsTSC1 and TSC2Tumor supprTuberinHamartinMutationPKD1EncodeTuberous sclerosisAutosomal-dominantProteinsLociPTENDeletionPhenotype1993AlleleSFARI Gene ArchiveMappingSomaticSyndromesClinicalDevelopmentalRegulatesKDM5CCellsVariantsDownstreamSyndromeRolesCancersPathwaysProtein FunctionAutismBacterialHumanExpressionMolecularDistalGenomeRecurrentReceptorPatients
Mutations18
  • TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. (wikipedia.org)
  • TSC is characterized by autosomal-dominant mutations in the TSC1 or TSC2 genes (encoding for the protein Hamartin on chromosome 9q34 and Tuberin on chromosome 16q13 respectively) leading to overactivation of the mTOR (mechanistic target of rapamycin) pathway with increased cell proliferation and a range of other consequences. (uspharmacist.com)
  • These studies reveal that recurrent somatic mutations occur in only a handful of genes, with an overall mutational burden of roughly 1-2 per Mb. (springer.com)
  • Mutations in either TSC1 or TSC2, which are tumor suppressor genes that work together to facilitate tumor suppression, cause tuberous sclerosis complex. (medscape.com)
  • Lymphangiomyomatosis is caused due to mutations in TSC1 and TSC2 genes. (wikidoc.org)
  • Methods:Clinical data of 1 case diagnosed as CUX2 gene mutations related developmental epileptic encephalopathy type 67 in the Children′s Hospital Affiliated to Zhengzhou University in January 2021 were collected, the patient′s clinical characteristics, genetic testing, head imaging, electroencephalogram results and treatment were summarized, and the patient was regularly followed-up every 3 months. (bvsalud.org)
  • Most PKD1 mutations have so far been detected in the single copy, 3' end of the gene, but a group of patients with deletion of PKD1 and the adjacent TSC2 gene, which have severe infantile polycystic kidney disease, have also been characterised. (ox.ac.uk)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. (nih.gov)
  • LAM can occur with increased frequency in patients with tuberous sclerosis complex (TSC), an autosomal dominant disorder due, in part, to mutations in the TSC1 or TSC2 gene. (medscape.com)
  • Denys-Drash syndrome, due to mutations of the WT1 gene, is also associated with a congenital nephropathy and disorders of sexual development. (abdominalkey.com)
  • The development of Wilms tumor has been linked to mutations of the WT1 and WT2 genes located on chromosome 11 at 11p13 and 11p15.5, respectively ( 8 , 9 ). (abdominalkey.com)
  • The café au lait lesions associated with genetic and systemic disorders are caused by, inheritance, mutations in specific genes and spontaneous mutations. (blogspot.com)
  • LS is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. (blogspot.com)
  • McCune-Albright syndrome is caused by mutations in the GNAS1 gene. (blogspot.com)
  • So far 17 gene mutations have been linked to Fanconi anemia. (blogspot.com)
  • A prognostic predictive model constituted with gene mutations of APC, BRCA2, CDH1, SMO, and TSC2 in colorectal cancer. (cdc.gov)
  • This week in Nature Genetics , two studies report recurrent mutations in splicing-related genes in blood tumors. (massgenomics.org)
TSC1 and TSC21
  • TSC1 and TSC2 genes located on chromosome 9q34 and 16p13, are involved in the pathogenesis. (wikidoc.org)
Tumor suppr3
Tuberin5
  • TSC2, encodes for the protein tuberin. (medscape.com)
  • TSC1 gene is responsible for the production of hamartin protein and TSC2 for the production of tuberin protein. (wikidoc.org)
  • TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas. (biomedcentral.com)
  • The TSC2 gene product (tuberin) is a tumor suppressor protein whose absence or inactivation is associated with several defects such as abnormal cellular migration, proliferation, and differentiation [ 6 , 7 ]. (biomedcentral.com)
  • Tuberin expression was initially induced following acute renal injury, suggesting that the TSC2 gene may function as an acute-phase response gene, limiting the proliferative response after injury [ 8 ]. (biomedcentral.com)
Hamartin1
  • The two identified genes that are responsible for TSC are TSC1 gene, the hamartin gene, located on chromosome 9. (inspired4care.co.uk)
Mutation14
  • Once a person affected with tuberous sclerosis complex is found to have a mutation in the TSC1 or TSC2 gene, at-risk family members may be tested. (medscape.com)
  • TSC is caused by a mutation in the genes either during conception or pregnancy. (inspired4care.co.uk)
  • These mutated genes regulate cell growth and the mutation allows for uncontrolled growth that spreads into tumours throughout the body. (inspired4care.co.uk)
  • The tuberous sclerosis complex (TSC) gene mutation has been associated with the development of lymphangiomyomatosis. (wikidoc.org)
  • We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4934-4935delTT, leading to a p.F1645CfsX7, who developed a unilateral Wilms tumor (WT). (bvsalud.org)
  • No mutation affecting the remaining WT1 and WTX alleles, as well as the CTNNB1 gene was found. (bvsalud.org)
  • Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)
  • Full mutation leads to hypermethylation of this expanded CGG repeat tract, silencing the FMR1 gene with consequent decrease/absence of encoded FMR1 protein: cognitive disability. (kipdf.com)
  • At the same time, the domestic and foreign literatures on epileptic encephalopathy caused by CUX2 gene mutation were reviewed. (bvsalud.org)
  • Her Gene study combines topics from a wide range of disciplines, such as Molecular biology and Mutation. (research.com)
  • It is an inherited disorder caused by mutation in the NF1 gene located on chromosome number 17. (blogspot.com)
  • Patients with NF2 have mutation in NF2 gene located on chromosome number 22. (blogspot.com)
  • Tuberous sclerosis is a rare genetic disorder caused by a mutation of gene TSC1 or TSC2. (blogspot.com)
  • Among these were 30 coding SNVs, of which one was a missense mutation in the U2AF1 gene. (massgenomics.org)
PKD16
  • The gene for polycystic kidney disease (PKD), PKD1, is contiguous with the TSC2 gene on chromosome 16, and patients with tuberous sclerosis complex occasionally have symptoms of PKD. (medscape.com)
  • We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. (ox.ac.uk)
  • Using a positional cloning approach the major autosomal dominant polycystic kidney disease (ADPKD) gene (PKD1) has been identified on chromosome 16: a disease associated chromosome translocation was instrumental in its identification. (ox.ac.uk)
  • Study of the PKD1 gene has been complicated because most of the gene lies in a genomic region reiterated elsewhere on the same chromosome. (ox.ac.uk)
  • The duplicate area contains three genes which share substantial homology with PKD1 and generate polyadenylated transcripts. (ox.ac.uk)
  • As a part of the same scientific family, Ans M. W. van den Ouweland mostly works in the field of Gene, focusing on Molecular biology and, on occasion, PKD1, Chromosomal translocation, Polycystin 2, Polycystic kidney disease and Cosmid. (research.com)
Encode2
  • Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. (ox.ac.uk)
  • Resistant and susceptible wheat cultivars therefore differed in their response in the expression of genes that encode chitinases, transporters, wall-associated kinases, permeases, and wound-induced proteins, among others. (ppjonline.org)
Tuberous sclerosis5
Autosomal-dominant1
Proteins2
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • The major objective of this study was to compare gene expression in resistant and susceptible wheat cultivars after infection with Ptr ToxA-producing race 2 and direct infiltration with Ptr ToxA proteins. (ppjonline.org)
Loci2
  • Subsequent studies have identified a number of genes implicated in the William's contiguous gene phenotype, and in common with many other human microdeletion syndromes, hemizygosity at one or more loci leading to the disruption of expression of dosage-sensitive genes appears to be the principal mutational mechanism underlying the clinical phenotypes. (what-when-how.com)
  • Loss of heterozygosity (LOH) at the TSC1 or TSC2 loci has been detected in TSC -associated hamartomas and renal cell carcinoma (RCC) as well as in sporadic tumors of non-TSC patients [ 2 ]. (biomedcentral.com)
PTEN1
  • For germline variant-associated MCD genes such as TSC2, DEPDC5, and PTEN, germline SNV were frequently identified within large loss of heterozygosity regions, supporting the recently proposed 'second hit' disease mechanism in these genes. (mdc-berlin.de)
Deletion2
Phenotype2
  • Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)
  • Objective:To summarize the clinical phenotype and CUX2 gene variation characteristics of developmental epileptic encephalopathy type 67 confirmed by whole exome sequencing. (bvsalud.org)
19931
  • Chromosome markers such as translocation breakpoints found in patients with abnormal phenotypes were often pivotal in identifying the chromosomal region of interest following which positional cloning methods resulted in the identification and characterization of the gene(s) of interest (Tommerup, 1993). (what-when-how.com)
Allele1
  • Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild-type TSC2 allele, and loss of heterozygosity for the WT1 gene. (bvsalud.org)
SFARI Gene Archive2
  • Information in SFARI Gene Archive will no longer be updated. (sfari.org)
  • To view the previous version, visit the SFARI Gene Archive . (sfari.org)
Mapping1
  • Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. (nih.gov)
Somatic2
  • Recurring somatic whole chromosome duplications affecting Chromosome 7 (16.8%), chromosome 5 (10.9%), and chromosome 20 (9.9%) were observed among LEAT. (mdc-berlin.de)
  • We detect somatic variants in twelve established lesional epilepsy genes and demonstrate exome-wide statistical support for three of these in the etiology of LEAT (e.g. (mdc-berlin.de)
Syndromes2
  • THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.com)
  • There have been over 60 reported microdeletion syndromes (see Article 87, The microdeletion syndromes, Volume 2) involving virtually all chromosomes (Table 1). (what-when-how.com)
Clinical2
  • In summary, our comprehensive genetic screen sheds light on the genome-scale landscape of genetic variants in epileptic brain lesions, informs the design of gene panels for clinical diagnostic screening, and guides future directions for clinical implementation of epilepsy surgery genetics. (mdc-berlin.de)
  • Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States]. (cdc.gov)
Developmental1
Regulates2
  • Angiotensin II receptor type 1 blockade regulates Klotho expression to induce TSC2-deficient cell death. (ailam.it)
  • TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism. (ailam.it)
KDM5C1
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
Cells2
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • [ 4 ] Animal models suggest that estrogen may promote the metastasis of TSC2-deficient cells to the lungs. (medscape.com)
Variants3
  • The disorder is caused by pathogenic variants in the NAA10 gene located on chromosome X at position Xq28. (hindawi.com)
  • Ogden syndrome (MIM #300855) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants of the NAA10 gene located at Xq28 [ 1 ]. (hindawi.com)
  • This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)
Downstream1
Syndrome2
  • Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). (ox.ac.uk)
  • Wiedemann-Beckwith syndrome is related to abnormalities on chromosome 11p15 and characterized by multiple craniofacial anomalies, abdominal wall defects, and tumors of the genitourinary tract, liver, adrenal gland, and central nervous system among other abnormalities. (abdominalkey.com)
Roles3
  • The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • Future studies should elucidate the specific roles these genes play in the wheat response to Ptr . (ppjonline.org)
Cancers1
Pathways2
  • We shall consider each subtype in turn describing genes and pathways of oncogenesis and how these relate to prognosis and treatment response. (springer.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
Protein Function1
  • To date, it is well known that lncRNAs participate in chromatin modifications and transcriptional and translational regulation of protein-encoding genes or regulate protein function and activity through specific binding [ 3 - 5 ]. (jcancer.org)
Autism1
Bacterial1
  • Leading up to the publication of the advanced draft assembly of the Human Genome Sequence in 2001, attention switched to the innovative use of fully sequenced clones (principally Bacterial or P1 Artificial Chromosomes, BAC/PACs). (what-when-how.com)
Human8
  • Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (ox.ac.uk)
  • Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region. (ox.ac.uk)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. (nih.gov)
  • Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. (nih.gov)
  • Tumor-infiltrated macrophages were isolated from human GC tissues using magnetic beads, gene transcription was determined by real-time PCR, protein expression was monitored using western blots, metabolites were determined using HPLC, and transcriptional regulation was analyzed by the luciferase-based reporter gene system. (cancerindex.org)
  • Vulnerable groups and the hollow promise of benefit from human gene editing. (cdc.gov)
Expression1
Molecular1
  • Indeed, the majority of phase III trials investigating novel molecular agents failed to demonstrate their efficacy, mostly due to inaccurate patient selection (particularly concerning driver gene amplification and copy number) and the lack of preclinical models supporting proof of concepts followed by structured trials. (encyclopedia.pub)
Distal1
  • The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10. (nih.gov)
Genome1
Recurrent1
  • In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)
Receptor1
  • This lncRNA is an antisense of intron 1 of unc-5 netrin receptor B (UNC5B) gene. (jcancer.org)
Patients1
  • Several terminal, or more correctly, subtelomeric deletions have been described following analysis of patients with normal karyotypes using chromosome-specific sub-telomere FISH probes (Knight et al. (what-when-how.com)