2024年12月24日 · BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include Bardet-Biedl Syndrome 9 and Bardet-Biedl Syndrome . Among …

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [4] [5] The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone …

2025年1月4日 · Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. This gene is downregulated by parathyroid …

This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues. …

2024年12月10日 · Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl …

BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic …

Background: BBS9 is a component of the octameric BBSome, a complex that transports membrane proteins to the primary cilium. Results: BBS9 has four folded domains, based on …

2018年6月26日 · BBS9 encodes one of seven Bardet-Biedl Syndrome (BBS) proteins that form the stable core of a protein complex required for ciliogenesis and that have a likely function in …

临床外显子组测序用于在受影响的个体中寻找引起 BBS 的变异，并在 BBS9 基因 (c.702 + 1del) 中鉴定出一种新的纯合剪接位点变异。 进行桑格测序以进行变异验证和分离研究。

2018年1月22日 · Clinical chromosomal microarray (CMA) testing and high-throughput BBS gene panel sequencing detected a homozygous 7p14.3 deletion of exons 1–4 of BBS9 that was …