Tfap2a disease

Author: fwyd

August undefined, 2024

WebAdenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion.Mutations in the APC gene may result in colorectal cancer.. APC is … Web16 Oct 2024 · genes in panel. prev next arhgap31 3 arl6 1 arse 3 asxl1 2 bbs1 1 bbs10 1 bbs12 1 bbs2 1 bbs4 1 bbs5 1 bbs7 1 bbs9 1 bhlha9 3 bmp2 5 bmp4 1 bmpr1b 2 brca2 2 …

Human Gene TFAP2A (ENST00000379608.9) from GENCODE V39

WebDISEASE: Defects in TFAP2A are the cause of branchiooculofacial syndrome (BOFS) [MIM:113620]; also known as branchial clefts with characteristic facies, growth … WebBranchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name … ronnie spector hall of fame

Gene: TFAP2A (CAKUT) - Genomics England

Web14 Jun 2016 · Structural eye disease Severe Paediatric Disorders Deafness and congenital structural abnormalities Cataracts CAKUT Limb disorders Intellectual disability ... Publications for TFAP2A were set to Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet … WebHuman diseases caused by Tfap2a mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in … WebCardiovascular disease (CVD) is the leading cause of death worldwide. During disease progression, the heart undergoes changes in its size, shape, structure and function … ronnie strickland obituary

TFAP2A transcription factor AP-2 alpha [ Homo sapiens (human) ]

Integrative Single‐Cell Transcriptomics and Epigenomics Mapping …

WebNational Center for Biotechnology Information WebTFAP2A 6:10393186-10419659 Reverse strand gene: transcription factor AP-2 alpha Formerly known as: AP2TF, TFAP2 Also known as: AP-2alpha, AP-2, ENSG00000137203 … ronnie spector on the death of eddie moneyWebClick on a disease name to see all genes associated with that disease. Mutations/Alleles. 2 with disease annotations. References. 1 with disease annotations. ... Tfap2a interacts … ronnie stern therapist

"Web5 Jul 2004 · Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural ... " - Tfap2a disease

Tfap2a disease

Entry - *107580 - TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A

WebTranscription factor AP-2α is one of a group of related proteins called AP-2 transcription factors. These proteins regulate genes that help control cell division and the self … WebTfap2a: TFAP2A is a transcription factor important for NCC induction, survival, and differentiation. ... This disease is caused by a mutation in the transcription factor TFAP2A, …

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WebThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) … Web19 Jun 2024 · gene: TFAP2A was added gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2A were set to 10767004, 18423521 Phenotypes for gene: TFAP2A were set to …

Web25 Jun 2024 · Cell Death & Disease - TFAP2C facilitates somatic cell reprogramming by inhibiting c-Myc-dependent apoptosis and promoting mesenchymal-to-epithelial transition … WebTFAP2A (AP-2, AP2TF, TFAP2) protein expression summary. We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. ... DISEASE. IMMUNE. BLOOD. SUBCELL. CELL LINE. STRUCTURE. METABOLIC. TFAP2A. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. …

WebTFAP2 (AP-2) family regulates transcription of growth factors and their receptors. TFAP2A and TFAP2C directly stimulate transcription of the estrogen receptor ESR1 gene (McPherson and Weigel 1999). TFAP2A expression correlates with ESR1 expression in breast cancer, and TFAP2C is frequently overexpressed in estrogen-positive breast cancer and ... Web25 Jan 2024 · Mutations in TFAP2A cause branchiooculofacial syndrome, another autosomal dominant orofacial clefting disorder with a phenotype that can include lip pits …

WebTFAP2A. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. …

Web3 Nov 2024 · TFAP2A-AS1 inhibits the proliferation and migration of GC cells. In the downstream regulation mechanism, miR-3657 was verified as the downstream gene of … ronnie spector related to philWeb5 Apr 2024 · It is also important to investigate the cell-type epigenome and transcriptome atlas of the developing human retina to allow the mapping of disease-associated genes to specific cell types. Therefore, we generated genetic maps of ocular diseases, such as retinoblastoma and CSNB, which were matched to retinal cell types during the embryonic … ronnie strained a in his leg when he fellWeb6 Apr 2024 · The initial reports suggested that TFAP2A played a cancer-inhibitory role for proliferation suppression, apoptosis induction and chemosensitivity enhancement 8, as … ronnie spector\u0027s son donte phillip spectorWebTFAP2A Status UniProtKB reviewed (Swiss-Prot) Organism Homo sapiens (Human) Amino acids 437 Protein existence Evidence at protein level Annotation score 5/5 Entry Feature … ronnie spitzer rate my professor uc berkeleyWeb1 Mar 2024 · Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. … ronnie spector\u0027s bookWebTFAP2A (AP-2, AP2TF, TFAP2) protein expression summary. Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate tra … ronnie strickland chickasaw county msWeb17 May 2024 · Interestingly, at a subset of MITF/TFAP2A overlapping peaks where MITF was lost in TFAP2-KO cells, TFAP2A binding was lost in MITF-KO cells (MITF/TFAP2A … ronnie stern show