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Phf21a

WebPHF21A; see all. Function. Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it ... WebJul 13, 2012 · PHF21A encodes a plant homeodomain finger protein whose murine and zebrafish orthologs are both expressed in a manner consistent with a function in …

Anti-BHC80 / PHF21A antibody (ab224612) Abcam

WebFeb 1, 2024 · PHF21A is genetically associated with Potocki–Shaffer Syndrome, but the molecular basis of cognitive deficits is unknown.. RNA-Seq of PHF21A-deficient patient cells revealed 1,885 commonly misregulated genes.. Pathway analysis showed downregulation of pathways relevant to learning and memory, including cAMP-mediated signaling. • Reporter … microsoft word table row height https://brazipino.com

Disruption of PHF21A causes syndromic intellectual disability with …

WebDec 17, 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, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during … WebABCA3 es una proteína de la subfamilia A de las proteínas de unión a ATP (ABC) que se expresa en los neumocitos tipo II del pulmón. Su función principal es participar en la síntesis y transporte del surfactante pulmonar, cuya deficiencia se asocia con enfermedades pulmonares graves en recién nacidos y adultos. WebImmunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) - Anti-BHC80 / PHF21A antibody (ab224612) Paraffin embedded human adrenal gland tissue stained for … new shoes meyer book

Disruption of PHF21A causes syndromic intellectual disability with …

Category:Potocki-Shaffer syndrome: MedlinePlus Genetics

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Phf21a

PHF21A Gene - Somatic Mutations in Cancer - Wellcome Sanger …

WebOct 26, 2024 · PHF21A PHD finger protein 21A. PHF21A. PHD finger protein 21A. Gene ID: 51317, updated on 26-Oct-2024. Gene type: protein coding. Also known as: BHC80; NEDMS; BM-006; IDDBCS. See all available tests in GTR for this gene. Go to complete Gene record for PHF21A. Go to Variation Viewer for PHF21A variants. WebSep 25, 2013 · Labile Zn fingers (Zfs) in proteins contain Zn-bound thiolates that can react with electrophilic agents, causing Zn(2+) ejection and protein unfolding. Such labile Zfs have been shown to be Cys4 or Cys3His cores whose Zn-bound Cys have no hydrogen bonds. Our aim here is to identify labile Zfs in pro …

Phf21a

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PHD finger protein 21A is a protein that in humans is encoded by the PHF21A gene. http://gene.sfari.org/database/human-gene/PHF21A

WebFeb 1, 2024 · Genetic evidence has implicated haploinsufficiency of PHF21A, a gene that encodes a histone-binding protein, as the likely cause of intellectual disability and craniofacial abnormalities in Potocki-Shaffer Syndrome. However, the molecular consequences of reduced PHF21A expression remain elusive. WebNov 28, 2024 · PHF21A variants were analyzed by Sanger sequencing using standard methods. PCR products were sequenced with BigDye Terminator v3.1 Cycle Sequencing …

WebJan 3, 2024 · The PHF21A gene encodes BHC80, a component of a BRAF35 ( 605535 )/histone deacetylase (HDAC; see 601241) complex (BHC) that mediates repression of … WebDec 17, 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, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during …

WebFeb 5, 2024 · PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype. PHF21A truncating …

WebO objetivo deste estudo é explorar os benefícios do uso da internet para pessoas com deficiências intelectuais (ID), os riscos que podem enfrentar ... Registro de ensaios clínicos. ICH GCP. microsoft word table shading every other rowWebDec 17, 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, … new shoe smell sprayWeb2 days ago · JW 중외제약은 신약 개발 속도를 높이기 위해 제브라피쉬 모델 전문 비임상시험기관인 제핏과 업무협약 (MOU) 을 체결했다. 이번 협약으로 JW 중외제약은 자체 신약후보물질의 적응증 확장과 신규 혁신신약 과제에 제브라피쉬 모델을 활용한다 . … new shoes marketing