Smarcc2 gene
WebSep 2, 2014 · In this study, we hypothesized that genetic variants in SMARC genes may modify the capacity of DNA repair to damage. To test this hypothesis, we genotyped a total of 20 polymorphisms in five key SMARC genes (SMARCA5, SMARCC2, SMARCD1, SMARCD2, SMARCD3) to evaluate their associations with DNA damage levels in 307 … WebMar 3, 2024 · SMARCC2 variants were recently reported in 15 unrelated patients with impaired intellectual development with speech and behavioral abnormalities, hypotonia, …
Smarcc2 gene
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WebDec 9, 2024 · Several regulatory phosphosites were experimentally validated, including identifying a role in neuronal differentiation for phosphosites in SMARCC2, a member of the SWI/SNF chromatin-remodeling... WebThe protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes.
WebAntibodies that detect SMARCC2 can be used in several scientific applications, including Western Blot, Immunohistochemistry, Immunocytochemistry, Immunoprecipitation and ELISA. These antibodies target SMARCC2 in Human, Mouse and Rat samples. Our SMARCC2 polyclonal antibodies are developed in Rabbit. Find the SMARCC2 antibody … The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Two transcript variants encoding different isofor…
WebSep 1, 2024 · SMARCC2 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants. Gene Function Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). WebMar 21, 2024 · SMARCC2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2) is a Protein Coding gene. Diseases associated with SMARCC2 include Coffin-Siris Syndrome 8 and Coffin-Siris Syndrome 1 . Among its …
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WebSMARCC2-related syndrome is similar to other syndromes that are caused by related genetic pathways: Coffin-Siris syndrome, which is caused by changes in the genes … fisheries oceanography影响因子WebSindrome di Marfan Malattia di solo un allele anomalo di un gene; ossia saranno affetti sia gli eterozigoti che gli omozigoti per il gene anomalo. Only one abnormal allele of a gene is needed to express an autosomal dominant trait; ie, heterozygotes and homozygotes for the abnormal gene are affected. fisheries oceanography缩写WebSMARCC2 regulates the EMT status of the glioblastoma cell line by mediating the expression of the oncogene C‑MYC to inhibit its migration and invasion ability. Thus, SMARCC2 may function as a tumor suppressor or oncogene by regulating associated oncogenes or tumor suppressor genes. ... Gene Knockdown Techniques Glioma / … canadian inglisWebSep 22, 2024 · We found that a region of SMARCB1 (aa 169–385, SMARCB1 (169–385)), and the SWIRM domain of SMARCC2 (aa 423–518, SMARCC2 (423–518)) (Fig. 1a) form … fisheries officer canadaWeb1.5442542869250499e-25 24.8112811843659 3557 243 101. 1.58007335581262e-25 24.801322750206801 3558 243 101. 2.12717824016857e-25 24.672196118240901 3571 243 fisheries officer job descriptionWebApr 7, 2024 · SMARCC2 directly interacted with the C-terminal region of ARID1A, and this interaction was necessary for the stable association of ARID1A with the SWI/SNF complex. When SMARCC2 is mutated, ARID1A is often lost as a consequence, leading to dysregulation of gene expression and potentially contributing to the development of … fisheries odishaWebJun 2, 2024 · SMARCC2 is the core subunit of the chromatin‑remodeling complex, SWI/SNF. Relative mRNA SMARCC2 expression levels in human glioma tissue were analyzed via reverse transcription‑quantitative PCR, whereas the protein expression levels were determined via immunohistochemistry staining. canadian inmates online