Skeletal ciliopathies: a pattern recognition approach
Sign Up to like & getrecommendations! Published in 2020 at "Japanese Journal of Radiology"
DOI: 10.1007/s11604-020-00920-w
Abstract: Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common… read more here.
Keywords: pattern recognition; recognition approach; skeletal ciliopathies; approach skeletal ... See more keywords
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
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DOI: 10.1038/s10038-021-00925-x
Abstract: Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins,… read more here.
Keywords: massively parallel; variant; using massively; yield ... See more keywords
Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Biology of the Cell"
DOI: 10.1091/mbc.e22-05-0188
Abstract: Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery, which contains the IFT-A and IFT-B complexes powered by the kinesin-2 and dynein-2 motors. Mutations in genes encoding subunits of the IFT-A… read more here.
Keywords: ift52 variations; caused ift52; skeletal ciliopathies; found skeletal ... See more keywords