Ask about this productRelated genes to: DIAPH1 antibody
- Gene:
- DIAPH1 NIH gene
- Name:
- diaphanous related formin 1
- Previous symbol:
- DFNA1
- Synonyms:
- hDIA1, LFHL1
- Chromosome:
- 5q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-17
- Date modifiied:
- 2019-04-23
Related products to: DIAPH1 antibody
Related articles to: DIAPH1 antibody
- Acute hyperglycemia significantly exacerbates cerebral ischemia‒reperfusion injury and worsens clinical outcomes. Notably, insulin-based hypoglycemic therapy during the perioperative period of recanalization does not have a clear protective effect, suggesting that the underlying mechanisms are complex and require further investigation. In this study, we established a middle cerebral artery occlusion/reperfusion (MCAO/r) mouse model and induced acute hyperglycemia via intraperitoneal injection of 50% glucose solution before surgery. Blood glucose levels in acute hyperglycemic MCAO/r mice spontaneously returned to normal within 3 h. Nevertheless, 24 h after reperfusion, acute hyperglycemia significantly promoted the formation of neutrophil extracellular traps (NETs) via the receptor for advanced glycation end products (RAGE)/diaphanous-1 (DIAPH1) signaling axis, thereby exacerbating microvascular obstruction and brain injury following ischemic stroke. Intervention with FPS-ZM1 (N-benzyl-4-chloro-N-cyclohexylbenzamide) or deoxyribonuclease I (DNase I) significantly alleviated these pathological features. These data provide novel mechanistic insights into this pathological process and suggest a potential therapeutic strategy for improving outcomes in stroke patients at risk of futile recanalization. - Source: PubMed
Publication date: 2026/04/15
Li QinhongWu BoChen ZiruiGong QingLiu YafeiLi YuanshuRu XufangLi WenyanWu NanChen ZhiChen YujieYang Zhao - Biallelic DIAPH1 mutations are linked to hereditary microcephaly syndrome, yet the underlying pathogenic mechanism remains unelucidated. This study aimed to clarify how DIAPH1 biallelic mutations cause microcephaly and visual impairment, focusing on the gene's regulatory role in the Wnt/β-catenin signaling pathway. - Source: PubMed
Publication date: 2026/04/10
Wang DayanLai PanjianWang KanWu ZhuanbinLi Xiaobing - Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. - Source: PubMed
Publication date: 2026/04/01
Younis Nancy SAlkabsh Rahma MNasser Alqahtani Shahad MAljuail HajerAlhashim Manar ABokhamsin Shahad AAlbaqshi Layla JAlqadhib Salsabil FAldandan Jumanah AAlshakhs Zahra AAltaweel Maryam HMohamed Maged E - Nonsyndromic hearing loss (NSHL) is a highly prevalent, genetically heterogeneous condition, yet its molecular basis in the Singaporean population remains underexplored. We performed whole-exome sequencing and integrative bioinformatics analysis in 115 patients with NSHL to define population-specific genetic biomarkers. A molecular diagnosis was achieved in 57% of cases, with 76% of identified variants classified as pathogenic or likely pathogenic and 24% exhibiting high pathogenic potential. Common East Asian NSHL genes, including , , and , were frequently detected alongside less prevalent genes such as , , , , , , , , , , , , , , , highlighting extensive genetic heterogeneity. Notably, multiple novel variants, including c.554-2A>G, and TNC p.N750Y, were identified, expanding the known mutational spectrum of . Genotype-phenotype correlations revealed that variants were primarily associated with mild to moderate hearing loss, whereas variants correlated with severe to profound phenotypes in the Singaporean populations. Collectively, our study provides important insights into the genetic architecture of NSHL in Singapore's population. In addition, it supports improved molecular diagnosis yield and informed clinical management decisions as well as the advancement of precision medicine approaches aimed at reducing the burden of hearing loss in the region. - Source: PubMed
Publication date: 2026/02/26
Lim Che KangCheng Mei ShuangLow GerardTang Joyce Zhi'enNg Jia HuiOng Ni GinLeem Pei ShanLim Su AnnThong Jiun FongTan Vanessa Yee Jueen - Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene's developmental role using vertebrate models. - Source: PubMed
Publication date: 2026/03/17
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