Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling

Defective primary cilia cause a range of diseases called ciliopathies, which include hearing loss (HL). Variants in the human oxysterol-binding protein like 2 (OSBPL2/ORP2) are responsible for autosomal dominant nonsyndromic HL (DFNA67). However, the pathogenesis of OSBPL2 deficiency has not been fu...

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Detalles Bibliográficos
Autores principales: Shi, Hairong, Wang, Hongshun, Zhang, Cheng, Lu, Yajie, Yao, Jun, Chen, Zhibin, Xing, Guangqian, Wei, Qinjun, Cao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876550/
https://www.ncbi.nlm.nih.gov/pubmed/35041619
http://dx.doi.org/10.1172/jci.insight.149626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876550/
https://www.ncbi.nlm.nih.gov/pubmed/35041619
http://dx.doi.org/10.1172/jci.insight.149626

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