Human Polyclonal MSH2 Ab
- Known as:
- Human Polyclonal MSH2 Antibody
- Catalog number:
- a0064
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- ABclonal
- Gene target:
- Human Polyclonal MSH2
Related genes to: Human Polyclonal MSH2 Ab
- Gene:
- MSH2 NIH gene
- Name:
- mutS homolog 2
- Previous symbol:
- COCA1
- Synonyms:
- HNPCC, HNPCC1
- Chromosome:
- 2p21-p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-07-28
- Date modifiied:
- 2019-04-23
Related products to: Human Polyclonal MSH2 Ab
Related articles to: Human Polyclonal MSH2 Ab
- Pathogenic variants of can increase mutational load within colorectal cells, which may drive initiation and progression of colorectal cancer (CRC). We identified several variants within among CRCs from African Americans (AA). To predict and assess the functional significance of these variants, we employed a combination of in silico analyses and in vitro functionality assays. Our objective was to elucidate the correlation between computational predictions and functional outcomes. - Source: PubMed
Publication date: 2026/06/04
Rashid MudasirBrim HassanTeng ShaoleiSobitan AdebiyiCruz-Cosme RuthQiyi TangKoi MinoruCasazza KatherineSurtees Jennifer ACarethers John MAshktorab Hassan - Cerebral cavernous malformations (CCMs) are vascular abnormalities characterized by clusters of dilated capillaries. They are most associated with loss-of-function mutations in three genes (Ccm1, Ccm2, and Pdcd10/Ccm3). In capillary endothelial cells, mutations activate the Rho-associated coiled-coil-containing protein kinase (ROCK), leading to non-heme iron deposition and lesion formation, thereby contributing to CCM pathophysiology. To address this, ROCK inhibitors are being explored as potential stabilizing therapies in CCM. By reviewing the existing literature, this study aims to provide a descriptive evaluation of their effects on non-heme iron deposition and lesion formation in murine models. This systematic review followed the PRISMA 2020 guideline and was registered in PROSPERO (CRD420251048073). PubMed, Embase, Web of Science, and Scopus were searched from inception to 2 February 2026. Eligible studies included in vivo murine CCM models with mutations in the Ccm1, Ccm2, and Pdcd10/Ccm3 genes. Studies had to evaluate direct ROCK inhibitors, such as fasudil and BA-1049, or indirect modulators of the RhoA/ROCK pathway, such as statins, regardless of dosage, route, or duration, and provide molecular evidence of RhoA/ROCK pathway modulation. The primary outcome was lesion burden, and the secondary outcomes included non-heme iron deposition and ROCK activity. Systematic searches identified 389 records, of which 4 studies were included, demonstrating that fasudil, a ROCK inhibitor, consistently reduced non-heme iron deposition and lesion burden in preclinical CCM models in mice. In Ccm1+/-Msh2-/- mice, fasudil reduced non-heme iron deposition and stage 2 lesions; in Ccm2+/-Msh2-/- mice, fasudil reduced non-heme iron deposition and lesion burden. One study demonstrated that BA-1049 caused a dose-dependent reduction in non-heme iron deposition and lesion burden. Studies have shown that ROCK pathway modulation reduces non-heme iron deposition and lesion burden. Further clinical investigations involving patients with CCM are essential to verify whether these experimental benefits can be reproduced in clinical settings. - Source: PubMed
Publication date: 2026/06/08
Uslu IremSenturk EcemCelikkiran Zeynep EKara BilgeTurkmenel Merve GKilic BerkayAlomari OmarDemir Yangi Doga DYangi Kivanc - Epithelial cell adhesion molecule ()-associated Lynch syndrome arises from deletions at the 3'-end of that disrupt transcriptional termination, generate read-through transcripts and cause epigenetic silencing of MSH2 in EPCAM-expressing tissues. However, the clinical significance of deletions confined to the intergenic region remains uncertain without in-depth investigation.We investigated a family with a strong history of Lynch syndrome-related cancers in whom diagnostic testing by short-read sequencing identified a heterozygous deletion spanning the intergenic region that was initially classified as a variant of uncertain significance. The variant was further characterised using long-read Oxford Nanopore sequencing with adaptive sampling and methylation profiling.Long-read sequencing defined precise breakpoints, and tumour analysis demonstrated promoter hypermethylation with complete loss of MSH2 protein expression in the absence of germline promoter methylation. The molecular phenotype closely mirrored the recognised mechanism for 3'-end deletions, whereby aberrant transcription interferes with promoter regulation in a tissue-specific manner.These findings support reclassification of this variant to likely pathogenic and establish a diagnosis of -associated Lynch syndrome. This report provides the first evidence that intergenic deletions are associated with epimutations and highlights the diagnostic utility of long-read sequencing for noncoding structural variants. - Source: PubMed
Publication date: 2026/06/05
Steffens Reinhardt LuizaCoster AlexanderBurnard Sean MRomanis Caitlin SZiolkowski AndrewPecenpetelovska GordanaMathe AndreaHedley AmeliaMaltby Vicki ELechner-Scott JeannetteAshton KatieAvery-Kiejda Kelly AScott Rodney J - Effective management of hereditary cancers requires the accurate detection of both germline and somatic pathogenic variants. Conventional approaches, such as liquid biopsy and short-read sequencing, are widely used but may have limitations in resolving structural variants (SVs), providing phasing information, and capturing complex genomic alterations. Oxford Nanopore Technologies (ONT) long-read sequencing enables improved characterization of SVs and phasing, providing additional insights for germline variant analysis. - Source: PubMed
Publication date: 2026/06/05
Koyutourk BehichÇobanoğulları HavvaDiker ÖmerOlgun PolatEsmer Derya DemirtaşBalkan Salih MüjdatErgoren Mahmut Cerkez - Lynch syndrome (LS) is a hereditary cancer predisposition syndrome. Colorectal cancer during pregnancy is extremely rare, and LS-associated cases pose unique diagnostic and therapeutic challenges due to maternal-fetal and genetic considerations. - Source: PubMed
Publication date: 2026/05/20
Fan ShaoqingLi XiurongShi LiDong Jianan