A number sign (#) is used with this entry because Li-Fraumeni syndrome (LFS) is caused by heterozygous mutation in the p53 gene (TP53; 191170) on chromosome ... ... <看更多>
「tp53 omim」的推薦目錄：
tp53 omim 在 113721 - BREAST CANCER-RELATED REGULATOR OF TP53 的相關結果
While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified ... ... <看更多>
tp53 omim 在 OMIM Entry - * 610775 - TP53-INDUCED GLYCOLYSIS AND ... 的相關結果
p53 (TP53; 191170) plays a role in cellular adaptation to stress and in prevention of cancer development through interactions with a number of target genes. ... <看更多>
tp53 omim 在 OMIM Entry - * 605426 - TUMOR PROTEIN p53-REGULATED ... 的相關結果
605426 - TUMOR PROTEIN p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; TP53AIP1 - p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; P53AIP1 - TP53AIP1. ... <看更多>
tp53 omim 在 618165 - BONE MARROW FAILURE SYNDROME 5; BMFS5 的相關結果
A number sign (#) is used with this entry because of evidence that bone marrow failure syndrome-5 (BMFS5) is caused by heterozygous mutation in the TP53 ... ... <看更多>
tp53 omim 在 OMIM Entry - * 617482 - TP53 TARGET GENE 3; TP53TG3 的相關結果
TP53 (191170) is a transcription factor involved in cell cycle arrest, apoptosis, DNA repair, chromosomal stability, and inhibition of angiogenesis. ... <看更多>
tp53 omim 在 OMIM Entry - * 616403 - TP53 TARGET GENE 1; TP53TG1 的相關結果
TP53 TARGET GENE 1; TP53TG1. HGNC Approved Gene Symbol: TP53TG1. Cytogenetic location: 7q21.12 Genomic coordinates (GRCh38): 7:87,325,346-87,345,491 (from ... ... <看更多>
tp53 omim 在 OMIM Entry - * 605160 - p53-RESPONSIVE GENE 4 的相關結果
605160 - p53-RESPONSIVE GENE 4 - PRG4;; FLJ36000. ... <看更多>
tp53 omim 在 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7 的相關結果
A number sign (#) is used with this entry because of evidence that susceptibility to basal cell carcinoma-7 (BCC7) is influenced by variation in the TP53 ... ... <看更多>
tp53 omim 在 OMIM Entry - # 114480 - BREAST CANCER 的相關結果
Location Phenotype Phenotype; MIM number Inheritance Phenotype...
1p34.1 Breast cancer, invasive ductal 114480 AD, SMu 3
2q33.1 Breast cancer, protection against 114480 AD, SMu 3
2q35 Breast cancer, susceptibility to 114480 AD, SMu 3 ... <看更多>
tp53 omim 在 OMIM Entry - * 602704 - MDM4 REGULATOR OF p53 的相關結果
602704 - MDM4 REGULATOR OF p53; MDM4 - MOUSE DOUBLE MINUTE 4 HOMOLOG;; p53-BINDING PROTEIN MDM4;; MDMX;; HDMX - MDM4. ... <看更多>
tp53 omim 在 TUMOR PROTEIN p53; TP53 - OMIM - NCBI 的相關結果
*191170 - TUMOR PROTEIN p53; TP53. Cytogenetic locations: 17p13.1. OMIM: 191170 ... NCBI > Genetics & Medicine > Online Mendelian Inheritance in Man (OMIM). ... <看更多>
tp53 omim 在 TP53 gene: MedlinePlus Genetics 的相關結果
The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53). Learn about this gene and related health ... ... <看更多>
tp53 omim 在 TP53 mutations in human cancers - Nature 的相關結果
Keywords: TP53; p53; mutation; transactivation; phenotype. Introduction. The tumor suppressor gene TP53 (OMIM no. 191117) encodes a transcription factor ... ... <看更多>
tp53 omim 在 IARC TP53 Database: Welcome 的相關結果
IARC TP53 Database: knowledgebase and statistical tools for the analysis of TP53 gene mutations in human cancers. ... <看更多>
tp53 omim 在 Protein : TP53 的相關結果
Protein : TP53. Connectivity, 2492. Notes, Tumor protein p53, a nuclear protein, plays an essential role in the regulation of cell cycle, ... OMIM:202300. ... <看更多>
tp53 omim 在 The TP53 fertility network - SciELO 的相關結果
The transcription factor p53 is encoded by the Tumor Protein p53 gene (TP53, OMIM 191170), which in humans is located on the short arm of chromosome 17 ... ... <看更多>
tp53 omim 在 OMIM:151623 - Human Phenotype Ontology 的相關結果
Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. get_app Export Associations bug_report Report Entry Issue. ... <看更多>
tp53 omim 在 Preexisting TP53-Variant Clonal Hematopoiesis and Risk of ... 的相關結果
2021年10月14日 — CHIP variants were predefined as loss of function somatic alterations (VAF ≤40%) in DNMT3A, TET2, ASXL1, TP53, JAK2 (OMIM 147796), SF3B1, ... ... <看更多>
tp53 omim 在 Global Single Clustering of Phenotype-Associated Human ... 的相關結果
Proposed single-clustering of the OMIM-extracted aging (ageing) genes in the co-expression and physical interaction networks. •. Three genes, TP53, APP, ... ... <看更多>
tp53 omim 在 Known familial AL and MDS - UpToDate 的相關結果
Name of syndrome Causative gene(s) Pattern of inheritance
Familial AML with mutated CEBPA (OMIM 116897) CEBPA AD
Familial AML with mutated DDX41 DDX41 AD
Familial AML with mutated MBD4 MBD4 AD ... <看更多>
tp53 omim 在 TP53 mutations and Arg72Pro polymorphism in breast cancers 的相關結果
Mutations in TP53 (OMIM no. 191170) are the most frequent genetic alterations in human cancer, including breast cancer (BC). In human populations, the TP53 ... ... <看更多>
tp53 omim 在 TP53 Gene and Li-Fraumeni Syndrome | Appl. cancer res;25(2) 的相關結果
LFS is a dominantly inherited syndrome,frequently associated with germline mutations in theTP53 gene (OMIM #191170), which encodes protein p53.This protein ... ... <看更多>
tp53 omim 在 Sheet1 - PLOS 的相關結果
12, EBV, Stomach cancer, DOID:10534, (CREBBP, ERBB2, TP53), PPP2R1A, ACVR1, AKT1, APC, ... 13, EBV, Systemic autoimmune diseases, OMIM:613385, OMIM:615952, ... ... <看更多>
tp53 omim 在 NGS targeted sequencing TP53 panel | Paragon Genomics 的相關結果
The tumor-suppressor protein p53 is encoded by the TP53 gene on human chromosome 17. ... National Library of Medicine – OMIM database entry on TP53 ... ... <看更多>
tp53 omim 在 Human Disease Model Report: Li-Fraumeni syndrome 1 的相關結果
Disease Ontology Term. Li-Fraumeni syndrome 1. Parent Disease. OMIM ... It is an autosomal dominant disorder caused by mutation in the TP53 gene. ... <看更多>
tp53 omim 在 Loss of TP53-DNA interaction induced by p.C135R in lung ... 的相關結果
The p53 tumor suppressor gene (TP53; OMIM: 191170) plays an important role in tumorigenesis in lung epithelial cells. ... <看更多>
tp53 omim 在 TP53 - Genomics England PanelApp 的相關結果
TP53. tumor protein p53. OMIM: 191170, Gene2Phenotype ... Green TP53 in Brain cancer pertinent cancer susceptibility. ... <看更多>
tp53 omim 在 TP53 Gene Sequence Analysis [#2390] - Duzen Laboratories ... 的相關結果
Related Disease(s), Gene Name(s) TP53 (OMIM #191170);. Synonym · Synonym. TUMOR PROTEIN p53;. P53;. TRANSFORMATION-RELATED PROTEIN 53 (TRP53); ... ... <看更多>
tp53 omim 在 Predictive Value of the TP53/PIK3CA/ATM Mutation Classifier ... 的相關結果
Tumor protein p53 (TP53) (OMIM 191170), phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha (PIK3CA) (OMIM 171834), ... ... <看更多>
tp53 omim 在 Li-Fraumeni-Syndrom LFS1(TP53; OMIM 151623) - Labor Dr ... 的相關結果
Erbgang. autosomal-dominant. Klinische Bedeutung. Der Transkriptionsfaktor TP53 reguliert als Teil des DNA-Repair-Systems an zentraler ... ... <看更多>
tp53 omim 在 Table 3 CNVs in TP53, BRCA1, BRCA2, ERBB2, IDH1, and ... 的相關結果
Case Copy number state No. of OMIM genes 1 Important cancer genes Array nomencl...
Jed81_MT Mosaic‑loss 226 TP53 arr, 17p13.3p...
Jed82_MT Mosaic‑loss 291 TP53 arr, 17p13.3q...
Jed89_MT Mosaic‑loss 289 TP53 arr, 17p13.3q... ... <看更多>
tp53 omim 在 TRIAP1 - TP53-regulated inhibitor of apoptosis 1 - UniProt 的相關結果
Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. ... <看更多>
tp53 omim 在 Li-Fraumeni Syndrome (P53) - Tulsa - Saint Francis Health ... 的相關結果
Li-Fraumeni Syndrome (P53)-Molecular Test Requisition | Specimen Information | Billing ... OMIM - Li-Fraumeni Syndrome: www.omim.org/entry/151623. ... <看更多>
tp53 omim 在 tp53 - ZFIN Gene 的相關結果
ID: ZDB-GENE-990415-270; Name: tumor protein p53; Symbol: tp53 Nomenclature ... Disease Ontology Term, Multi-Species Data, OMIM Term, OMIM Phenotype ID ... ... <看更多>
tp53 omim 在 View TP53 gene homepage - - Instituto Nacional del Cáncer 的相關結果
Gene symbol, TP53. Gene name, tumor protein p53. Chromosome, 17. Chromosomal band, p13.1 ... PubMed articles, TP53. OMIM - Gene, 191170 ... ... <看更多>
tp53 omim 在 Online Mendelian Inheritance in Man (OMIM) - ClinGen 的相關結果
Ada Hamosh, Scientific Director of OMIM, talks with the ClinGen Biocurator Working Group about this great resource, demonstrating various features on the OMIM ... ... <看更多>
tp53 omim 在 Human Gene TP53 (uc002gij.3) - UCSC Genome Browser 的相關結果
Description: Homo sapiens tumor protein p53 (TP53), transcript variant 1, mRNA. RefSeq Summary (NM_001276760): This gene encodes a tumor suppressor protein ... ... <看更多>
tp53 omim 在 Cost-effectiveness of Breast Cancer Screening With Magnetic ... 的相關結果
... OMIM; and BRCA2, OMIM) or TP53 (OMIM) variant, screening guidelines vary substantially, and cost-effectiveness analyses are scarce. ... <看更多>
tp53 omim 在 搜索 的相關結果
Online Mendelian Inheritance in Man (OMIM) provides an exceptional compendium ... TP53 was the overlapping hub gene in each of the networks. ... <看更多>
tp53 omim 在 List of OMIM disorder codes - Wikipedia 的相關結果
OMIM is one of the databases housed in the U.S. National Center for ... 114500; TP53 · Colorectal cancer, hereditary nonpolyposis, type 1; 120435; MSH2 ... ... <看更多>
tp53 omim 在 Rep21 DNA interaction. Purified TP53 expressed by E. coli ... 的相關結果
Rep21 is the TP53 response element from the human p21 gene. ... C135R in lung cancer | The p53 tumor suppressor gene (TP53; OMIM: 191170) plays an important ... ... <看更多>
tp53 omim 在 Elements of Biocomputing (BCO) - BBGLab 的相關結果
Click Pubmed to see the list of publications about TP53 in Pubmed. ... The full-text, referenced overviews in OMIM contain information on all known ... ... <看更多>
tp53 omim 在 inherited-gene-mutations-and-associated-cancer-risks-1.pdf 的相關結果
time risk of 53%.4 Patients with Li-Fraumeni syndrome (TP53[OMIM. 151623] mutation) also have an elevated risk of breast cancer, but. ... <看更多>
tp53 omim 在 каталожный номер в базе генов человека OMIM № 191117 的相關結果
English translation: #191117 in the OMIM catalog of human genes (and genetic disorders) ... The tumor suppressor gene TP53 (OMIM no. ... <看更多>
tp53 omim 在 List of variants in gene TP53 reported by OMIM - ClinVar Miner 的相關結果
List of variants in gene TP53 reported by OMIM ... The information on this website is not intended for direct diagnostic use or medical decision-making without ... ... <看更多>
tp53 omim 在 Cost-effectiveness of Breast Cancer Screening With Magnetic ... 的相關結果
... OMIM 113705; and BRCA2, OMIM 114480) or TP53 (OMIM 151623) variant, screening guidelines vary substantially, and cost-effectiveness ... ... <看更多>
tp53 omim 在 TP53 and CHEK2 germline mutations in malignant solid tumors. 的相關結果
3119Background: Li-Fraumeni syndrome (LFS, OMIM #151623) is an autosomal dominant cancer predisposition syndrome. ... <看更多>
tp53 omim 在 CHEK2 gene page - eDGAR 的相關結果
GO term GO ID GO IC
ubiquitin protein ligase binding GO:0031625 4.17
ubiquitin‑like protein ligase binding GO:0044389 4.15
protein serine/threonine kinase activity GO:0004674 3.64 ... <看更多>
tp53 omim 在 TP53 Mutation & Sequence Analysis Test ... - Versiti 的相關結果
(7/25/12): http://www.omim.org/entry/191170. 2. Olivier M, Taniere P. Somatic mutations in cancer prognosis and prediction: lessons from TP53 and EGFR genes ... ... <看更多>
tp53 omim 在 The TP53 gene homepage - Global Variome shared LOVD 的相關結果
Gene symbol, TP53. Gene name, tumor protein p53. Chromosome, 17 ... OMIM - Diseases, ADCC (Adrenocortical carcinoma, hereditary) ... <看更多>
tp53 omim 在 Breast Cancer STAT NGS Panel | Fulgent Genetics 的相關結果
PubMed: 15928302, 22585167, 20301790, 28418444; OMIM: 607585 ... TP53, Heterozygous pathogenic variants in the TP53 gene are associated with Li-Fraumeni ... ... <看更多>
tp53 omim 在 Lymphoma Information Sheet 6-13-19 - UChicago Genetic ... 的相關結果
TP53. [OMIM# 191170]. Heterozygous mutations in TP53 are associated with Li-Fraumeni syndrome (LFS), a cancer susceptibility disorder [18]. ... <看更多>
tp53 omim 在 Li-Fraumeni Syndrome via the TP53 Gene - PreventionGenetics 的相關結果
Li-Fraumeni syndrome (LFS; OMIM 151623) is a hereditary cancer syndrome that predisposes individuals to multiple neoplasms at an early age. ... <看更多>
tp53 omim 在 ODCs 的相關結果
5 OMIM references - ... 1 OMIM reference - ... INTERACTOME ASSOCIATIONS. (click on a score value to see the evidence). TP53 ... <看更多>
tp53 omim 在 TP53 FISH | Sonic Genetics 的相關結果
TP53 is one of the genes most frequently mutated in human cancer. Deletions of the TP53 gene can be identified in some patients with chronic lymphocytic ... ... <看更多>
tp53 omim 在 Li-Fraumeni Syndrome (LFS) - MalaCards 的相關結果
OMIM ® : Li-Fraumeni syndrome (LFS) is a clinically and genetically ... An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor ... ... <看更多>
tp53 omim 在 View TP53 gene homepage - Labor Staber Humangenetik 的相關結果
Gene symbol, TP53. Gene name, tumor protein p53. Chromosome, 17. Chromosomal band, p13.1 ... PubMed articles, TP53. OMIM - Gene, 191170. ... <看更多>
tp53 omim 在 Cost-effectiveness of Breast Cancer Screening with Magnetic ... 的相關結果
... OMIM 113705; and BRCA2, OMIM 114480) or TP53 (OMIM 151623) variant, screening guidelines vary substantially, and cost-effectiveness ... ... <看更多>
tp53 omim 在 The TP53 fertility network - Semantic Scholar 的相關結果
The TP53 gene, first described in 1979, was identified as a tumor suppressor gene in 1989, ... Protein p53 gene (TP53, OMIM 191170), which in humans. ... <看更多>
tp53 omim 在 Tuumorsupressorgeeni TP53 mutatsioonid II alates 03.05.2019 的相關結果
Tuumorsupressorgeen TP53 (OMIM 191170) on transkriptsioonifaktor, mis erinevate stressfaktorite ja rakkude kahjustuse korral (DNA ... ... <看更多>
tp53 omim 在 User:Ann Taylor/Sandbox 1 - Proteopedia, life in 3D 的相關結果
1 Human p53 core domain with hot spot mutation R249S (I) ... with this structure: Adrenal cortical carcinoma OMIM:[191170], Breast cancer OMIM:[191170], ... ... <看更多>
tp53 omim 在 Loss of TP53-DNA interaction induced by p.C135R in lung ... 的相關結果
The p53 tumor suppressor gene (TP53 ; OMIM: 191170) plays an important role in tumorigenesis in lung epithelial cells. TP53 encodes a sequence-specific ... ... <看更多>
tp53 omim 在 TP53 - Orphanet 的相關結果
OMIM -nummer (ziekte). TP53 - tumor protein p53. Synoniem(en) : LFS1, Li-Fraumeni syndrome, P53, p53; Voorgaande symbolen en namen : _ ... ... <看更多>
tp53 omim 在 Entrez Gene 的相關結果
BCC7|LFS1|P53|TRP53;tumor protein p53;TP53;tumor protein p53. Definition ... P53 pathway feedback loops 1;PANTHER;P04392 ... Adrenal cortical carcinoma;OMIM. ... <看更多>
tp53 omim 在 P53 - WikiSkripta 的相關結果
OMIM, 191170 ... Gen TP53 (Tumor protein p53) patří mezi důležité tumor ... Proteinu p53 se přezdívá "strážce genomu", právě pro jeho ... ... <看更多>
tp53 omim 在 Inherited TP53 Mutations and the Li–Fraumeni Syndrome 的相關結果
Germline TP53 mutations are identified in 75% of patients with classic ... to the “classic” definition of LFS (OMIM#151623) as follows: a ... ... <看更多>
tp53 omim 在 Whole-exome analysis of a Li–Fraumeni family trio with a ... 的相關結果
TP53 genetic testing revealed a never reported TP53 deletion arose as de novo ... Li–Fraumeni syndrome (LFS; OMIM 151623), as well as its variant form, ... ... <看更多>
tp53 omim 在 Genomic Applications in Pathology - 第 510 頁 - Google 圖書結果 的相關結果
... OMIM 600160): Dysplastic nevus syndrome/familial atypical multiple mole ... BAP1 tumor predisposition syndrome (OMIM 614327) [11–13] • TP53 (17p13.1, ... ... <看更多>
tp53 omim 在 Mechanisms in Carcinogenesis and Cancer Prevention 的相關結果
Indeed , p53 is an important regulator of homeostasis under genotoxic stress . ... I. TP53 Is a Member of a Multi - Gene Family The TP53 gene ( OMIM 191170 ) ... ... <看更多>
tp53 omim 在 DAkkS - Deutsche Akkreditierungsstelle 的相關結果
Li-Fraumeni-Syndrom (TP53 (OMIM EDTA-Blut, DNA aus Blut. *191170]). Makuladystrophie (MD) (ABCA4 EDTA-Blut, DNA aus Blut. ... <看更多>
tp53 omim 在 Adrenal Cortical Neoplasia, An Issue of Endocrinology and ... 的相關結果
Genes and Pathways Involved in Adrenocortical Cancer Tumor protein p53 Li-Fraumeni syndrome and germline mutation of TP53 Li-Fraumeni syndrome (LFS) (OMIM ... ... <看更多>
tp53 omim 在 Oxford Textbook of Neuro-Oncology - 第 179 頁 - Google 圖書結果 的相關結果
Aetiology/genetics Li-Fraumeni syndrome 1 (LFS1, OMIM #151623) is caused by germline mutations in the TP53 tumour suppressor gene, which accounts for 56–83% ... ... <看更多>
tp53 omim 在 Myeloid Neoplasms with Germline Predisposition 的相關結果
ANKRD26 (OMIM: 610855) has been associated with thrombocytopenia 2 ... marrow failure syndrome 1 (OMIM: 614675); TP53 (OMIM: 191170) has ... ... <看更多>
tp53 omim 在 OMIM Entry - * 191170 - TUMOR PROTEIN p53; TP53 的相關結果
The transcription factor p53 responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, ... ... <看更多>