Phf21a
WebSimons Searchlight studies rare genetic neurodevelopmental disorders. We are committed to learning as much as we can about these genetic contributions to these conditions. We … WebSi tratta di una terapia innovativa che ha l’obiettivo di trattare una patologia agendo direttamente sulle sue basi genetiche, fornendo all’organismo una copia corretta di un gene difettoso o un altro gene che possa compensarne il malfunzionamento. Tra i principali strumenti utilizzati per trasferire materiale genetico ci sono i vettori virali: virus spogliati …
Phf21a
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WebView Gene Families for PHF21A_TARGET_GENES. The following table provides a functional overview of the MSigDB gene sets by categorizing their genes into a small number of carefully chosen "gene families". To categorize the genes in a gene set, use the gene set page or the Investigate Gene Sets page. 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
Web1. dec 2001 · Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. In the complex, it interacts directly with HDAC1, HDAC2, HMG20B/BRAF35, KDM1A and RCOR1/CoREST. 3 publications 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, 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 …
WebBiological context of PHF21A. The C-terminal region of human BHC80 containing PHD zinc-finger domain was capable of binding directly to each of five other components of BHC, and of organizing BHC mediating transcriptional repression . A possible role of BHC80 in spermatogenesis is also suggested . Web28. nov 2024 · PHF21A functions as a subunit of a protein complex ; therefore, the truncated PHF21A may not be incorporated into the protein complex, resulting in functional …
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 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 ... solv clinging bowl cleaner sdsWebDe 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 ... solv city of seattle covid testingWebThe PHF21A (PHD finger protein 21A gene, OMIM*608325) encodes BHC80, a compo-nent of a BRAF35/histone deacetylase (HDAC) 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) [1]. It is involved in the regulation of neuronal solv covid testing lombardWebTodo lo que debes saber sobre PHF21A, la proteína de dedo PHD 21a; Todo lo que necesitas saber sobre la subunidad beta del complejo multienzimático trifuncional de la hidroxiacil-CoA deshidrogenasa; Mycobacterium dioxanotrophicus str. ph-06: Propiedades y usos; Mucilaginibacter sp. 94: características, usos y beneficios small bowel obstruction nhsWebIDDBCS is a heterogeneous genetic syndrome with diverse clinical features including Intellectual disability and epilepsy. Using WES, Sanger sequencing, we identified a novel … solv city of seattle university of washingtonWebPHF21A complex neurodevelopmental disorder. MONDO:0100038 AD Intellectual Disability and Autism GCEP Definitive 04/06/2024: Lumping & Splitting; Secondary Contributors; Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. ... solv covid testing lombard ilWebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron … solv clinging bowl cleaner