Ask about this productRelated genes to: SERPINB6 Blocking Peptide
- Gene:
- SERPINB6 NIH gene
- Name:
- serpin family B member 6
- Previous symbol:
- PI6, DFNB91
- Synonyms:
- PTI, CAP
- Chromosome:
- 6p25.2
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-20
- Date modifiied:
- 2016-04-06
Related products to: SERPINB6 Blocking Peptide
Related articles to: SERPINB6 Blocking Peptide
- We examined gene expression profiles in abdominal aortic aneurysm (AAA) lesions . normal aortas by cDNA microarray and real-time quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR). - Source: PubMed
Lu SongLi Li PingWhite John VZhang XiaoyingNwaneshiudu IfeyinwaNwaneshiudu AdaobiNtaoula NectariaGaughan JohnMonos Dimitri SLin Wan-LuSolomides Charalambos COleszak Emilia LPlatsoucas Chris D - Adaptive immune responses play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS). In this study, we investigated the functional mechanisms of T cell subtypes and assessed the causal links between CD4+ cytotoxic T cell-related genes and ALS risk. - Source: PubMed
Pang Xin YuanWang Hong FenBai Jiong MingHuang Xu Sheng - Hereditary deafness accounts for 60% of congenital hearing loss, and more than 300 deafness genes have been identified. SERPINB6, a gene associated with recessive deafness, also named DFNB91, is linked to non-syndromic progressive hearing loss based on studies of humans and its mouse ortholog Serpinb6a knockout mice. However, the mechanism and biological therapy for SERPINB6 mutation-induced deafness remain unknown. Here, we demonstrate that Gch1 is aberrantly overexpressed in Serpinb6a-deficient hair cells. Upregulation of Gch1 in wild-type mice cochlea via adeno-associated virus (AAV) resulted in hearing loss and hair cell death, while downregulation of GCH1 by its inhibitor DAHP effectively protected hair cells and auditory function in Serpinb6a knockout mice. Dysregulation of the Serpinb6a/Gch1 axis resulted in elevated expression of BH4 and then iNOS, leading to increased ROS production and eventually causing hair cell damage. These findings revealed that Gch1 overexpression is the mechanism underlying deafness induced by Serpinb6a mutation. Critically, Myo15 promoter-driven AAV delivery of exogenous Serpinb6a effectively rescues auditory function and hair cell survival in Serpinb6a-deficient mice. These findings suggested that AAV-based gene therapy offers a potential treatment for Serpinb6a knockout mice, which may serve as a promising strategy for treating DFNB91 patients in clinical settings. - Source: PubMed
Publication date: 2026/01/29
Cheng ChengZhang LiyanLu JieTan FangzhiHuang YidengGao SongLi SiyuQiu YueHao WenliZhou YingyiLu JunzeJi XinyaLi AoZhang XinruFan JinyiLi HeQian XiaoyunQi JieyuGao XiaChai Renjie - Prader-Willi syndrome (PWS) is an imprinting disorder not typically associated with severe congenital sensorineural hearing loss (SNHL). When profound SNHL is present in an infant with a known syndrome, an independent monogenic etiology should be considered. We report the first molecularly confirmed case of PWS co-occurring with biallelic pathogenic TMC1 variants causing congenital SNHL, outlining diagnostic challenges, cochlear implant (CI) outcomes, and implications for blended phenotypes. A male infant with PWS due to a paternal 15q11.2-q13 deletion failed newborn hearing screening. Diagnostic auditory brainstem response and auditory steady-state response confirmed bilateral severe-to-profound SNHL. Temporal bone CT/MRI were normal. Comprehensive genetic testing identified compound heterozygous TMC1 variants consistent with autosomal recessive DFNB7/11 hearing loss, plus two variants of uncertain significance in and . Sequential bilateral cochlear implantation was performed (left ear at 14 months, right at 20 months), followed by auditory-verbal therapy. Over four years, the child showed steady improvements in hearing and early-speech development. Early genomic evaluation is essential when clinical features appear atypical for a known syndrome. Identifying TMC1-related deafness enabled timely cochlear implantation and measurable gains. This case highlights that severe congenital SNHL in a syndromic infant may reflect a distinct monogenic disorder rather than phenotypic expansion of the primary syndrome, emphasizing the importance of recognizing blended phenotypes to guide precision-care strategies in rare disorders. - Source: PubMed
Publication date: 2026/01/17
Samara PinelopiAthanasopoulos MichailKoudoumnaki EvangeliaMarkatos NikolaosAthanasopoulos Ioannis - Interventions to prevent type 1 diabetes (T1D), an immune-mediated disease requiring lifelong treatment, remain limited. We sought to identify novel therapeutic targets for T1D through Mendelian randomization and colocalization using immune cell-derived instruments. - Source: PubMed
Publication date: 2025/11/26
Sklar JulieStacey DavidNickel GraceButterworth Adam SAllara EliasGaziano Liam