Phf21a mutation
WebPHF21A_ENST00000323180 - Explore an overview of PHF21A_ENST00000323180, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. Web30. okt 2014 · This makes these mutations prime candidates for causing diseases that occur sporadically, and that decrease the reproductive fitness and incur a large degree of selection against phenotypes such as ID. Based on these considerations, we hypothesized that the contribution of DNMs is greater in more severe forms of ID.
Phf21a mutation
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WebConcentration of non-myocyte proteins in arterial media of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PHD finger protein 21A is a protein that in humans is encoded by the PHF21A gene.
WebDescription: Homo sapiens zinc finger MYM-type containing 2 (ZMYM2), transcript variant 9, mRNA. (from RefSeq NM_001353162) RefSeq Summary (NM_001190964): The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this … WebPHF21A encodes a plant homeodomain finger protein whose murine and zebrafish orthologs are both expressed in a manner consistent with a function in neurofacial and craniofacial development, and suppres- sion of the latter led to both craniofacial abnormalities and neuronal apoptosis.
PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, … Web13. júl 2012 · Haploinsufficiency of PHF21A is the probable cause of ID and CFAs in all cases that we studied given that we detected no additional PHF21A mutation on the nontranslocated alleles in DGAP012 and MCN1762 and no clear differences between the critical ID and CFA features of these subjects and those of the PSS subjects with …
WebMutations in a number of chromatin modifiers are associated with human neurological disorders. ... four demethylases (KDM1A, KDM5A, KDM5B, KDM5C), and two reader proteins (PHF21A, PHF8) mutated in ...
Web17. dec 2024 · PHF21A (PHD finger protein 21A) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, … piano lessons can murdered goosebumpsWeb3. jan 2024 · The PHF21A gene encodes BHC80, a component of a BRAF35 ( 605535 )/histone deacetylase (HDAC; see 601241) complex (BHC) that mediates repression of … top 100 movies 22Web16. nov 2024 · Our case enlarges the mutation spectrum of NONO and expands hypoplastic left heart syndrome to the phenotype of NONO related disorder. This novel intronic variant in the NONO gene (c.154 + 9A > G) has previously not been reported as pathogenic or benign and has not been observed in the general population (dbSNP150, 1000 Genomes Project, … top 100 movie directorstop 100 movies 1997WebA Biblioteca Virtual em Saúde é uma colecao de fontes de informacao científica e técnica em saúde organizada e armazenada em formato eletrônico nos países da Região Latino-Americana e do Caribe, acessíveis de forma universal na Internet de modo compatível com as bases internacionais. top 100 movies all time listWebSpecialized chromatin-binding proteins are required for DNA-based processes during development. We recently established PWWP2A as a direct histone variant H2A.Z interactor involved in mitosis and craniofacial development. Here, we identify the top 100 movies comedyWeb22. okt 2024 · Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. … top 100 movies from 2000 to present