Smarcc2基因

Author: avfi

August undefined, 2024

WebMay 15, 2024 · In 15 patients with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2024) detected 13 heterozygous mutations in the SMARCC2 gene, 12 of which occurred de novo. Three mutations affected splicing, 1 resulted in frameshift, 1 caused a premature termination codon, 7 were missense, and 1 was an in-frame single amino acid deletion. Web卵巢高钙血症型小细胞癌（Small cell carcinoma of the ovary of hypercalcemic type, SCCOHT）属于一种侵袭性非常强的恶性肿瘤，通常发生于年轻的女性，其特征是具 …

Nat Cell Biol 综合多组学显示多梳抑制复合物2限制人类滋养层细 …

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… WebApr 4, 2024 · SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma. … cs beton plotovky

Entry - *601734 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, …

http://www.jinpanmed.cn/archives/date/2024/03/28/page/8 Websmarcc2 作用功能編輯該基因編碼的蛋白是SWI/SNF蛋白家族的成員，其成員顯示螺旋酶和ATP酶的活性，並被認為通過改變這些基因周圍的染色質結構來調節某些基因的轉錄。 Websmarcc2基因编码序列nm_003075.5，smarcc2蛋白编码序列np_003066.2，smarcc2基因又名baf170; cracc2; css8; rsc8,smarcc2基因,smarcc2蛋白,smarcc2抗体,smarcc2表达质粒,smarcc2基因cdna,smarcc2基因crispr质粒,smarcc2基因shrna干扰质粒,smarcc2蛋白,smarcc2抗体,smarcc2抗体,smarcc2表达质粒,smarcc2基因cdna,smarcc2基因crispr质 … cs beton lužec

Entry - #618362 - COFFIN-SIRIS SYNDROME 8; CSS8 - OMIM

Smarcc2基因

Web概述：. SMARCB1是由位于染色体22q11.2上的基因SMARCB1的蛋白产物。. 广泛表达于正常细胞的细胞核，一些肿瘤可表达缺失。. 血管内皮和淋巴细胞核着色可作为内对照。. INII是SWI/SNFATP依赖性染色质重构复合物的核心亚单位，在正常细胞的细胞核中广泛表达（它被 … WebNov 23, 2024 · SMARCC2 knockout promoted the proliferation of glioblastoma cells, while its overexpression showed the opposite effect. Mechanistically, SMARCC2 negatively regulates transcription by dynamically regulating the chromatin structure and closing the promoter region of the target gene DKK1, which can be bound by the transcription factor …

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Web该基因编码的蛋白质是一种复杂结构的一部分，它解除了抑制性染色质结构，使转录机制能够更有效地访问其目标。编码的核蛋白还可能与hiv-1整合酶结合，并增强其dna连接活性。该基因被发现是一种肿瘤抑制因子，其突变与恶性横纹肌样肿瘤有关。

WebApr 11, 2016 · 博士研究生汤燕、洪雅贞等在研究员杨黄恬的指导下发现组蛋白去甲基化酶PHF8通过调控凋亡蛋白PMAIP1，从而影响胚胎干细胞向中胚层及心肌细胞的分化。. 在机制方面，胚胎干细胞向中胚层及心肌细胞分化过程中，PHF8结合到凋亡基因pmaip1的启动区上并移除其上的 ... Web基因/基因ID: ARID1A(8289) 表达特异性: ... ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the BAF (SWI/SNF-A) complex, which includes at least …

WebMar 21, 2024 · SMARCD2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 2) is a Protein Coding gene. Diseases associated with … WebSep 22, 2024 · Consistently, ITC indicated that the Rpt1 motif binds to SMARCC2 SWIRM with a Kd of ∼ 0.12 μM, a value comparable to one of the two Kd values (0.112 μM) measured for SMARCB1 (169–385 ...

Web本文报道本院神经内科收治的1例6q25.3缺失致 ARID1B 基因全部外显子杂合缺失，其单倍剂量不足引起的Coffin-Siris综合征Ⅰ型，了解表型与基因型之间相互关系，为临床诊断和遗传咨询提供依据。. 临床资料. 一、病例资料. 先证者，女，7岁6个月，因"全面性发育落后7 ...

Web作用功能. 该基因编码的蛋白是SWI/SNF家族的成员，与果蝇的Brahma蛋白非常相似。. 这个家族的成员具有解旋酶和ATP酶的活性，并被认为通过改变这些基因周围的染色质结构来 … csbetton footWeb该图显示了 smarcc2/baf170 的已知靶标基因 tmem53 的结合（参见包含 cut&run-qpcr 数据的其他结果图）。对在无酚红培养基和 5% 活性炭剥离 FBS 中生长 4 天后接着使用 β 雌 … dynex rc-401-0a remoteWebNov 23, 2024 · SMARCC2 knockout promoted the proliferation of glioblastoma cells, while its overexpression showed the opposite effect. Mechanistically, SMARCC2 negatively regulates transcription by dynamically regulating the chromatin structure and closing the promoter region of the target gene DKK1, which can be bound by the transcription factor … dynex register worker: failedWebSMARCC2 expression was knocked down in glioma cells using small interfering RNA (si) and overexpressed by infection with adenovirus vectors carrying SMARCC2 cDNA. Wound healing and Transwell assays were performed to assess cell migration and invasion, respectively. Subsequently, immunofluorescence and western blotting were performed to … dynex pneumatic cylinderWebChIP-seq的数据显示：RFX5 能够结合Cyclin D1 (CCND1)、MYC、CDK4、MDM2 和MDM4等细胞周期调控基因的转录调控区域，提示RFX5 可能参与细胞周期的调控，肝癌中过表达的RFX5 可能通过上调细胞周期相关基因的表达水平，致使细胞周期失调控，进而发展为原发性 … dynex printer cableWeb68094 Ensembl ENSG00000139613 ENSMUSG00000025369 UniProt Q8TAQ2 Q6PDG5 RefSeq (mRNA) NM_001130420 NM_003075 NM_139067 NM_001330288 NM_001114096 NM_001114097 NM_198160 NM_001372395 RefSeq (protein) NP_001123892 NP_001317217 NP_003066 NP_620706 NP_001107568 NP_001107569 NP_937803 … csb every day with jesus daily bibleWebJan 8, 2024 · SMARCC2. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2. Gene ID: 6601, updated on 8-Jan-2024. Gene type: … cs beton soloblok