Phf21a
WebDe novo translocations disrupting the PHF21A gene, as well as de novo truncating variants in PHF21A, have been identified in patients presenting with intellectual disability and dysmorphic facial features (Kim et al., 2012; Hamanaka et al., 2024). Potocki-Shaffer syndrome (OMIM 601224) is a contiguous gene deletion syndrome characterized by ... Web检测到PHF21A基因存在1个杂合变异：c.1701_1702del(p.Lys568ValfsTer3)，此序列变化导致PHF21A基因第1701…
Phf21a
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Webphf21a基因编码序列nm_001101802.3，21a蛋白编码序列np_001095272.1，phf21a基因又名bhc80; bm-006; iddbcs; nedms,phf21a基因,phf21a蛋白,phf21a抗体,phf21a表达质粒,phf21a基因cdna,phf21a基因crispr质粒,phf21a基因shrna干扰质粒,21a蛋白,21a抗体,phf21a抗体,21a表达质粒,21a基因cdna,21a基因crispr质粒,21a基因shrna干扰质粒购买价 … WebPhf21a-KO应用于研究领域:DNA转录,行为/神经,细胞组成,死亡/衰老,细胞核,DNA结合蛋白,分子生物学,神经系统,细胞生物学,发育生物学
WebView mouse Phf21a Chr2:92014096-92195011 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Web21. mar 2024 · Clinical resource with information about PHF21A, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without …
Web21. mar 2024 · The PHF21A gene encodes BHC80, 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 [PubMed … WebPHF21A is often included in larger genomic deletions resulting in Potocki-Shaffer syndrome (PSS). PSS is a contiguous gene deletion syndrome characterized by developmental delay, intellectual disability, multiple exostoses, and parietal foramina. Loss of the gene EXT2 causes the multiple exostoses phenotype, while loss of ALX4 causes the ...
Web21. mar 2024 · PHF21A (PHD Finger Protein 21A) is a Protein Coding gene. Diseases associated with PHF21A include Intellectual Developmental Disorder With Behavioral …
Web5. feb 2024 · PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype. PHF21A truncating … b&b yamaha lancaster pennsylvaniaWeb22. 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 … b&b yamaha tenere 700Webgene with protein product. Location: 11p11.2 b&b verbania intraWebPHF21A (PHD finger protein 21A) is a 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. ... b&b youtubeWebPHF21A expression as a biomarker of hepatocellular carcinoma progression and prognosis. Bibliogr. odkazy. - Res. angl. Sign. Zdroj. dok. Neoplasma : journal of experimental and … b&b vulcano san sebastianoWeb22. okt 2024 · Background: 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, we … b&b zabbara terrasiniWeb27. sep 2024 · Das Potocki-Shaffer-Syndrom ist ein seltenes, genetisches bedingtes Syndrom, das sich u.a. durch multiple, benigne Knochentumoren ( Osteochondrome) und kraniofaziale Dysmorphien äußert. ICD10 -Codes: Q93 - Monosomien und Deletionen der Autosomen, anderenorts nicht klassifiziert; Q93.5 - Sonstige Deletionen eines … daroz