SMARCB1 Pre-design Chimera RNAi
- Known as:
- SMARCB1 Pre-design Chimera RNAi
- Catalog number:
- H00006598-R01
- Product Quantity:
- 20 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- SMARCB1 Pre-design Chimera RNAi
Related genes to: SMARCB1 Pre-design Chimera RNAi
- Gene:
- SMARCB1 NIH gene
- Name:
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- Previous symbol:
- SNF5L1
- Synonyms:
- BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5
- Chromosome:
- 22q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-21
- Date modifiied:
- 2019-04-23
Related products to: SMARCB1 Pre-design Chimera RNAi
Related articles to: SMARCB1 Pre-design Chimera RNAi
- SMARCB1 (INI1)-deficient tumors are rare aggressive neoplasms characterized by biallelic inactivation of the SMARCB1 gene and loss of nuclear INI1 protein expression. Although melanocytic differentiation has occasionally been reported in SMARCB1-deficient tumors, intraocular presentations with histologically confirmed vertebral metastases in adults remain exceptionally uncommon and diagnostically challenging. - Source: PubMed
Publication date: 2026/07/15
Al-Hassana IbrahimVincent LethongsavarnAlihonou SetcheouChristian SielecheSouleymane Mahamadou AngoMohammed RabhiLaurent Do - Sequence variants in ARID1B, a subunit of the BRG1 (BRM)-associated factors (BAF) complex, are often challenging to classify clinically due to the broad phenotypic spectrum of ARID1B-related disorders (ARID1B-RD). Our previous work has shown that pathogenic variants in epigenetic regulatory genes are associated with DNA methylation (DNAm) signatures, which have proven diagnostic utility for variant classification. Given the role of ARID1B in chromatin remodeling, we profiled whole-blood DNAm for 22 individuals with ARID1B variants and 240 typically developing individuals using Illumina's Infinium EPIC array. We identified a unique DNAm signature for ARID1B-RD of 160 CpG sites (FDR < 0.05; Δβ > 5%) in six individuals with ARID1B-RD, validating this signature in two more individuals with ARID1B-RD and demonstrating its diagnostic utility by classifying 14 additional individuals with ARID1B variants. Collectively, our findings support the use of DNAm to clarify the interpretation of ARID1B variants, particularly missense and in-frame variants that are rarely reported and challenging to classify, as well as truncating variants in exons 1 and 3 that have been previously reported in unaffected individuals. Comparing the DNAm profiles of individuals with ARID1B-RD to individuals with other disorders of the BAF complex, we saw a spectrum of shared DNAm changes. The ARID1B-RD DNAm signature was able to distinguish the DNAm profiles of individuals with pathogenic variants in ARID1B from those with pathogenic variants in SMARCA2, ARID1A, and ATRX. However, it was not able to distinguish between individuals with pathogenic variants in ARID1B and SMARCB1. - Source: PubMed
Publication date: 2026/07/29
Chen AnthonyJain ManavBaribeau DanielleGibson William TDeardorff Matthew AAlkuraya Fowzan SOrtigoza-Escobar Juan DarioNimmo GraemeScherer Stephen WChoufani SanaaGoodman Sarah JWeksberg Rosanna - The SWI/SNF (SWItch/Sucrose Non - Fermentable) complex is a multi - subunit, ATPase - dependent chromatin - remodeling complex involved in regulating key cellular processes. Tumors with SWI/SNF loss tend to be poorly differentiated and aggressive. Triple - negative breast cancer (TNBC) typically has a high histological grade and a poor prognosis. Given the limited reports on the SWI/SNF complex in breast cancer, we focused on its role in TNBC. - Source: PubMed
Publication date: 2026/07/18
Wang ShangGao ChenWang QiXu Jing - Cancer of unknown primary (CUP) represents a heterogeneous group of metastatic malignancies in which the primary site remains unidentified despite comprehensive clinical, laboratory, radiological, and pathological evaluation. CUP is generally characterized by aggressive biological behavior, poor prognosis, and the absence of standardized treatment strategies. Tumor-associated blood eosinophilia (TABE) is relatively uncommon and typically occurs after tumor dissemination, often indicating an unfavorable prognosis. SMARCB1 (INI-1) is a core subunit of the switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex, and its functional loss can drive tumorigenesis through epigenetic dysregulation. However, cases of SMARCB1-deficient carcinoma presenting as CUP with marked TABE are exceedingly rare, posing significant diagnostic and therapeutic challenges. - Source: PubMed
Publication date: 2026/07/08
Zhang LeiWang Tian-YuHe Xue-SongZhou QuanLv Hai-JuanLai Rui-TaoJiang ZheJiang Fen-Fen - Atypical teratoid rhabdoid tumor (ATRT) is the most common malignant brain tumor in infants. ATRT is associated with inactivation/deletion of SMARCB1, a member of the SWI/SNF chromatin remodeling complex. SMARCB1 loss contributes to tumorigenicity by compromising SWI/SNF activity at specific loci associated with the CoREST repressor complex, which regulates transcription at critical gene promoters and enhancers. We therefore explored the role of the CoREST repressor complex in ATRT. - Source: PubMed
Publication date: 2026/07/21
Geethadevi AnupaVaidya NikhilFisher Robert JFindlay Tyler RDeng YimingPham KhoaKumar VikasBeck SamuelChoe JunLiu ShiyuLucas Calixto-Hope GEberhart Charles GXu JinchongCole Philip ARubens JeffreyCollard MarianneRaabe Eric HAlani Rhoda M