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Phf21a gene

Websummary_text = BHC80 is a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002). Web28. nov 2024 · In this study, we identified de novo truncating variants in an 11p11.2 gene, PHF21A, in three cases with intellectual disability and craniofacial anomalies. Among …

PHF21A gene: MedlinePlus Genetics

Web6. apr 2024 · 4 Prenatal Gene List For more information www.centogene.com For ordering www.centoportal.com ostoc CLA # 99D204 9 15 Cambridge CLA #22215444 V5eng_Aprilr2024 SHOC2 ... WebThe PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1 Mb … rochdale timber merchants https://ladonyaejohnson.com

Expression of PHF21A in cancer - Summary - Protein Atlas

Web22. okt 2024 · 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 … WebPHF21A, BHC80, BM-006, PHD finger protein 21A, NEDMS, IDDBCS External IDs OMIM: 608325MGI: 2384756HomoloGene: 9597GeneCards: PHF21A RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in blood ganglionic eminence monocyte sural nerve Achilles tendon internal globus pallidus gastric mucosa corpus callosum right lung rochdale to birmingham train

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Category:PHF21A gene with submissions organized by classifications - The …

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Phf21a gene

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Web27. nov 2024 · People who have mutations in a gene called PHF21A tend to have a constellation of traits and conditions, including autism, according to a new study 1.. … WebSequence variants and/or copy number variants (deletions/duplications) within the PHF21A gene will be detected with >99% sensitivity. Variants classified as unknown significance …

Phf21a gene

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WebCited Genes Cited Diseases Cited Phenotypes Cited Anatomical Terms; 1. Tarale P, Daiwile AP, Sivanesan S, Stöger R, Bafana A, Naoghare PK, Parmar D, Chakrabarti T, Krishnamurthi K. Manganese exposure: Linking down-regulation of miRNA-7 and miRNA-433 with α-synuclein overexpression and risk of idiopathic Parkinson''s disease. Webrs16938437 in PHF21A gene and Age at menarche PMID 21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. PMID …

WebTo discover new candidate genes, we have reexamined data from one such study on ocular dominance (OD) plasticity in recombinant inbred BXD mouse strains. We have correlated the level of... WebPHF21A has 3,981 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, …

Web21. mar 2024 · PHF21A. PHD finger protein 21A. Gene ID: 51317, updated on 28-Apr-2024. Gene type: protein coding. Also known as: BHC80; NEDMS; BM-006; IDDBCS. See all … Web14 Apr 2024, Gel status: 2 Created, Added New Source, Set mode of inheritance, Set Phenotypes Arina Puzriakova (Genomics England Curator) gene: ATP5O was added gene: ATP5O was add

WebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron …

WebA number sign (#) is used with this entry because of evidence that infantile liver failure syndrome-2 (ILFS2) is caused by homozygous or compound heterozygous mutation in the NBAS gene (608025) on chromosome 2p24. ... Molecular Genetics In 5 unrelated German patients with ILFS2, Haack et al. (2015) identified homozygous or compound … rochdale to blackpool trainWebExpression of PHF21A (BHC80, BM-006, KIAA1696) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers. ... PHF21A: Gene … rochdale to bradford by busWeb26. okt 2024 · The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates … rochdale to helmshoreWebReactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge. rochdale to buryWebRefSeq Summary (NM_015156):This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]. rochdale to loughboroughWebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of … rochdale to heywood busWebWe describe four H3K4me methyltransferases (KMT2A, KMT2C, KMT2D, KMT2F), four demethylases (KDM1A, KDM5A, KDM5B, KDM5C), and two reader proteins (PHF21A, PHF8) mutated in neurodevelopmental disorders. rochdale to bury tram