Ask about this productRelated genes to: CXorf9 antibody
- Gene:
- SASH3 NIH gene
- Name:
- SAM and SH3 domain containing 3
- Previous symbol:
- CXorf9
- Synonyms:
- SLY, 753P9, SH3D6C, HACS2
- Chromosome:
- Xq26.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-18
- Date modifiied:
- 2016-10-05
Related products to: CXorf9 antibody
Related articles to: CXorf9 antibody
- SLy1 is an emerging adapter protein, exclusively expressed in lymphocytes. In NK cells it serves as ribosomal stabilizer and plays an important role for their maturation, survival and functionality. SLy1-deficient (SLy1) NK cells exhibit ribosomal instability, which leads to excessive amounts of free ribosomal proteins followed by an accumulation of p53. However, the characterization of the impairment and the dependence on p53 has not yet been elucidated. - Source: PubMed
Publication date: 2026/06/04
Rebmann LisaSchwenck VictoriaBlumendeller CarolinGrund IsabelleBotzenhardt JannikaBeer-Hammer Sandra - Periodontitis and psoriasis are two prevalent conditions that are bidirectionally associated. However, the molecular basis remains poorly understood. This study utilized bioinformatics approaches to investigate the common diagnostic genes and shared mechanisms of periodontitis and psoriasis. - Source: PubMed
Publication date: 2026/06/18
Wang QiulinFang Changle - Early-life psychosocial stress (ELS) has lasting effects on physical and mental health, yet the biological mechanisms linking ELS to midlife cognitive function remain incompletely understood. Chronic, low-grade inflammation has been proposed as a key pathway, but prior studies have examined only a narrow set of markers. - Source: PubMed
Publication date: 2026/05/25
Wang XiaolingHarris Ryan ALiu YutaoGoldstein Felicia CMansuri AsifhusenMcDowell Jennifer ESu Shaoyong - Src Homology 3 Domain-containing Adaptor Protein 3 (SASH3) deficiency is an X-linked immune disorder. Here we identified a male case with a pathogenic SASH3 variant (c.1039C>T [p.Arg347Cys]) who presented with osteogenesis imperfecta, intellectual disability and recurrent infections. While immunological features in this case were characterized, further studies are needed to determine the association between the SASH3 variant and the skeletal or neurological manifestations. - Source: PubMed
Publication date: 2025/09/15
Kido JunMizukami TomoyukiMisumi YoheiSugawara KeishinKusunoki ShouichirouNishimura NaotoMizuguchi TakeshiMatsumoto NaomichiUeda MitsuharuNakamura Kimitoshi - Congenital neutropenia (CN) comprises a heterogeneous group of rare genetic disorders. While some CN cases present only with neutropenia, others present with additional extra-hematological manifestations. The most common cause of CN is variants in ; however, approximately 30 other genes have been implicated. Despite this, the genetic basis remains unknown in roughly 30% of cases. The clinical and genetic heterogeneity of CN makes diagnosis particularly challenging. To address this, we conducted exome or genome sequencing of 60 patients with a suspected diagnosis of CN that remained unresolved following targeted sequencing. A genetic diagnosis was established in 25 patients (42%). Variants were identified in 15 different genes. Half of these cases involved genes traditionally associated with hereditary immunodeficiencies (, , , , , , and ). One-third of the cases carried variants in genes linked to syndromic disorders (, , , and ), demonstrating variable penetrance of extra-hematological phenotypes. A smaller subset (15%) harbored variants in genes associated with inherited bone marrow failure syndromes (, , , and ), identified incidentally due to atypical presentations. Compared to patients with ELANE-CN, these individuals were diagnosed later, had fewer severe bacterial infections and gingivitis, exhibited less profound neutropenia, lacked monocytosis, and had a granulocytic maturation arrest, often beyond the promyelocytic stage. A shared feature among these cases was a tendency toward reduced lymphocyte subsets, particularly NK cells. This study highlights the significant contribution of exome and genome sequencing in diagnosing CN, given the phenotypic overlap, genetic heterogeneity, and variable penetrance of immunological and extra-hematological features. - Source: PubMed
Publication date: 2025/06/11
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