2024年12月24日 · BBS7 (Bardet-Biedl Syndrome 7) is a Protein Coding gene. Diseases associated with BBS7 include Bardet-Biedl Syndrome 7 and Bardet-Biedl Syndrome. Among …

2025年2月9日 · Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. Authors found that …

Bardet-Biedl 综合征 7： 该基因编码构成 BBSome 复合体的八种蛋白质之一，包含 BBS1、BBS2、BBS4、BBS5、BBS7、BBS8、BBS9 和 BBIP10。 BBSome 复合体被认为将 Rab8 …

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene. [5] Mutations in this gene are associated with the Bardet–Biedl syndrome. [5]

尽管bbs基因的蛋白质产物的功能尚不完全清楚，但借助模式生物，研究者已揭示bbs蛋白参与纤毛功能及细胞内运输等，其中bbs7既是bbsome的一个的独立亚基，又可以通过直接结合bbs的 …

巴德-毕德尔综合症7，也被称为bbs7，与埃利斯-范克雷夫综合症和窒息性胸腔病有关。 与巴德-毕德尔综合症7相关的基因是BBS7（巴德-毕德尔综合症7），其相关通路/超级通路包括细胞器 …

2023年9月5日 · In a consanguineous Saudi pedigree with Bardet-Biedl syndrome (BBS7; 615984), Badano et al. (2003) identified a homozygous 4-bp deletion in the BBS7 gene that …

Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal …

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit …

2018年6月26日 · BBS7 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 …