Ask about this productRelated genes to: SMC1A antibody
- Gene:
- SMC1A NIH gene
- Name:
- structural maintenance of chromosomes 1A
- Previous symbol:
- SMC1L1
- Synonyms:
- DXS423E, KIAA0178, SB1.8, Smcb
- Chromosome:
- Xp11.22
- Locus Type:
- gene with protein product
- Date approved:
- 2000-08-11
- Date modifiied:
- 2019-04-23
Related products to: SMC1A antibody
Related articles to: SMC1A antibody
- Source: PubMed
- Source: PubMed
- Hearing loss (HL) is a common sensory disorder, with syndromic forms accounting for ~30% of genetic cases. Due to phenotypic and genetic heterogeneity, accurate diagnosis remains challenging. Exome sequencing (ES) offers a powerful tool to uncover the underlying genetic causes. This study aimed to investigate the genetic basis of syndromic hearing loss (SHL) in North African Moroccan patients through ES. Seven individuals with suspected SHL were recruited from Hassan II University Hospital, Fez. After clinical and audiological assessments, ES was performed to identify causal genetic variants. Two of the participating individuals had Usher syndrome, and one each had Cornelia de Lange syndrome, Wolfram syndrome, Jervell and Lange-Nielsen syndrome, CHARGE syndrome, and Waardenburg syndrome. The causes of all these syndromes were determined, with pathogenic variants in , , , , , , and . Across the combined cohort of reported Moroccan SHL cases, variants in and were among the most frequently observed, while and variants were rare. This study enhances the understanding of SHL in North Africa, revealing a high level of locus and allelic heterogeneity. Examining disparate populations yields novel insights into the etiology of SHL, which can subsequently enhance genetic diagnosis and tailored management strategies. - Source: PubMed
Publication date: 2026/04/22
El Fizazi KhawlaGhaffar AmamaBouguenouch LailaSaleem Irum BadshahOuldim KarimAhmed Zubair MRidal MohammedRiazuddin Saima - HCC remains a leading cause of cancer-related mortality, and effective therapies are limited. SMC1A, a core subunit of the cohesin complex involved in chromatin organization and transcriptional control, has not been fully characterized in HCC. SMC1A expression and prognostic value were analyzed using ICGC and single-cell datasets, and validated in tissue microarrays and clinical specimens. Functional roles were examined in vitro, in vivo, and in patient-derived organoids. Mechanistic studies combined transcriptomic, chromatin, and post-transcriptional analyses to define downstream transcriptional regulation and upstream m6A-dependent control. Therapeutic delivery was assessed using siRNA-loaded LNPs. SMC1A was significantly upregulated in HCC and associated with poor prognosis. SMC1A knockdown suppressed proliferation, migration, invasion, and organoid growth, reduced tumor burden in xenograft and primary models, and promoted apoptosis. Nestin was identified as a transcriptional target of SMC1A; SMC1A facilitated enhancer-promoter interactions to activate Nestin transcription, and Nestin overexpression rescued malignant phenotypes after SMC1A depletion. Upstream, IGF2BP1 bound m6A-modified regions within the SMC1A 3'-UTR, stabilized SMC1A mRNA, and maintained the SMC1A-Nestin axis. Systemic LNP-siSMC1A accumulated in the liver and inhibited tumor growth. SMC1A drives HCC progression through Nestin-associated chromatin regulation and is maintained by IGF2BP1-mediated m6A stabilization. LNP-based silencing of SMC1A suppresses HCC. - Source: PubMed
Publication date: 2026/05/22
Peng ZhenxiangWen DiguangZeng LuLv LinLiao ShengtaoZhang WenguangMei ZhechuanLi Chuanfei - Exome sequencing (ES) can improve the diagnostic yield of neonates with multisystem anomalies, but interpreting its results in the clinical setting remains challenging. - Source: PubMed
Publication date: 2026/03/27
Yang YangWen Zhang