Ask about this productRelated genes to: SH3KBP1 antibody
- Gene:
- SH3KBP1 NIH gene
- Name:
- SH3 domain containing kinase binding protein 1
- Previous symbol:
- -
- Synonyms:
- CIN85
- Chromosome:
- Xp22.12
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-14
- Date modifiied:
- 2016-10-05
Related products to: SH3KBP1 antibody
Related articles to: SH3KBP1 antibody
- Diabetes mellitus (DM) is a complex metabolic disorder with polygenic inheritance.The morbidity associated with DM and its complications, especially the microvascular complication of diabetic nephropathy (DN), is tremendous, with a high disease burden globally and in India. A literature search has identified various studies on genetic and epigenetic factors in the pathophysiological processes of DN. However, epigenetics knowledge is limited and requires ongoing research into DN pathogenesis, progression, and outcome mechanisms. Therefore, this study was proposed to conduct a genome-wide methylation study (GWAS) to identify the genes that have altered methylation, followed by validation of the shortlisted genes by real-time polymerase chain reaction (PCR). The results generated by this study would thus help to identify the genes affecting the etiopathogenesis of DN and thereby improve future patient outcomes. - Source: PubMed
Publication date: 2026/04/20
Kulhari KanchanMukherjee BhaskerSibin M KMisra PratibhaMurari TSahu RajeshGupta AnurodhAshwani Singh RajwinderGodse Ruchira - Glioblastoma (GBM) is an aggressive brain tumor characterized by rapid growth and infiltration. New therapies are desperately needed to improve GBM patient outcomes. Intra-tumoral heterogeneity is a common driver of failure for novel GBM treatments, and many preclinical studies rely on cell lines established from the tumor core. As a result, they fail to characterize the infiltrative tumor cells, which remain post-surgery and ultimately drive tumor recurrence. - Source: PubMed
Publication date: 2026/07/10
Porter HarryMulhall KayleyShah MariaVinohar Jeffy JosephKaradimas Konstantinos-PanagiotisMistry ShaylenDeacon SimonHaque FarhanaBakker EmyrBoocock David JCoveney ClareLayfield RobertRahman RumanMcCrorie Phoebe - Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by impairments in social communication and restricted, repetitive behaviors. Increasing evidence suggests that immune dysregulation may be present in a subset of individuals with neurodevelopmental disorders, although its role in ASD remains incompletely understood. We report two male patients with ASD, neurodevelopmental delay, immune dysregulation, and congenital cardiac anomalies. Genetic analysis using chromosomal microarray (CMA) identified distinct copy number variants on the X chromosome in each case. In patient 1, a duplication of the Xq28 region encompassing the gene was identified, consistent with MECP2 duplication syndrome, a well-established cause of neurodevelopmental impairment and recurrent infections. In this case, the clinical presentation was comparatively milder than typically described, highlighting phenotypic variability within this condition. In patient 2, a hemizygous deletion at Xp22.12 partially involving the gene was detected and classified as a variant of uncertain significance (VUS). The patient presented with recurrent respiratory infections, impaired humoral immune responses, reduced B-cell counts, and neurodevelopmental impairment. This observation broadens the limited clinical spectrum associated with ariants and may aid future assessment of their clinical relevance, although a causal relationship remains unproven. Together, these observations emphasize the value of comprehensive genetic testing in individuals with complex neurodevelopmental and systemic presentations and support consideration of immunological evaluation in selected patients with ASD who present with recurrent infections, allergic disease, or additional phenotypic features suggestive of inborn errors of immunity. - Source: PubMed
Publication date: 2026/06/15
Marin-Llobet ArnauHernando-Davalillo CristinaBaide-Mairena HeidyLlobet-Agullo PilarFornes Garcia NeusPerez-Herrera VeronicaBaro-Serrano Anna - Ovarian cancer (OC) remains the most lethal gynecological malignancy, with profound tumor microenvironment (TME) heterogeneity contributing to the suboptimal clinical response to immune checkpoint inhibitors (ICIs). Therefore, delineating the metabolic heterogeneity of T cells within the TME is imperative for identifying precise prognostic biomarkers and refining individualized immunotherapeutic strategies. - Source: PubMed
Publication date: 2026/04/24
Tian HuadongLiu XiaotongWang GuojiaoWang ZimoLuo Yuexi - Aberrant lipid metabolism is a hallmark of hepatocellular carcinoma (HCC), yet the regulatory mechanisms governing lipid droplet (LD) dynamics and their contribution to tumor progression remain poorly understood. Here, we developed an ultrasensitive phosphoproteomic platform using high-affinity HPDA@Ti nanospheres to map LD-associated phosphorylation events across six HCC cell lines. By correlating phosphoproteomic signatures with LD morphology, we identified distinct regulatory signatures associated with LD size and abundance. Functional perturbation screens identified two distinct phosphoprotein modules controlling LD size: silencing , , , , and reduced LD size in Huh1 cells, whereas silencing , , , , , and enlarged LDs in Huh7 cells. Notably, we identified EPB41L3 as a critical metabolic-metastatic link; its loss decreased LD size and accelerated HCC migration and invasion, correlating with poor clinical prognosis. Crucially, we identified five key phosphorylation sites on EPB41L3 essential for its function; substituting these with alanine completely abolished its regulatory control over both LD size and HCC metastatic potential. Together, these findings delineate a phosphorylation-based regulatory network controlling the LD architecture and metastatic potential in HCC. Our study not only identifies potential therapeutic targets but also establishes a generalizable phosphoproteomic framework for interrogating lipid signaling in cancer metabolism. - Source: PubMed
Publication date: 2026/05/29
Mao Jian-WenXia YanLuo Xue-YangWang ShupeiGong JingyiXu JindianChen WeiweiWu JiaqiLi ZimengLuo JiahuiZhang HongyeLu QingWu DuojiaoWu Wei-ZhongWang JiaxiHuang Li-Hao