Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
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DOI: 10.1002/humu.24478
Abstract: Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been… read more here.
Keywords: spondylo epi; primary ciliogenesis; joint laxity; epi metaphyseal ... See more keywords
Primary ciliogenesis is a crucial step for multiciliated cell determinism in the respiratory epithelium
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DOI: 10.1111/jcmm.16729
Abstract: The alteration of the mucociliary clearance is a major hallmark of respiratory diseases related to structural and functional cilia abnormalities such as chronic obstructive pulmonary diseases (COPD), asthma and cystic fibrosis. Primary cilia and motile… read more here.
Keywords: primary ciliogenesis; cell; respiratory epithelium; primary cilia ... See more keywords
Deficiency of calpain-6 inhibits primary ciliogenesis
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DOI: 10.5483/bmbrep.2019.52.10.182
Abstract: The primary cilium is a microtubule-based structure projecting from a cell. Although the primary cilium shows no motility, it can recognize environmental stimuli. Thus, ciliary defects cause severe abnormalities called ciliopathies. Ciliogenesis is a very… read more here.
Keywords: primary ciliogenesis; ciliogenesis; deficiency calpain; deficiency ... See more keywords