Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Nephrology"
DOI: 10.1007/s40620-021-01048-4
Abstract: Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients’ diagnosis, prognosis, surveillance and therapy. The present study applied a Next Generation Sequencing (NGS)-based panel,… read more here.
Keywords: kidney focused; focused ngs; nephroplex kidney; bbs4 ... See more keywords
BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1
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DOI: 10.1038/s41598-017-10330-0
Abstract: Bardet-Biedl syndrome is a model ciliopathy. Although the characterization of BBS proteins has evidenced their involvement in cilia, extraciliary functions for some of these proteins are also being recognized. Importantly, understanding both cilia and cilia-independent… read more here.
Keywords: secretion; fstl1; fstl1 protein; differentiation 3t3 ... See more keywords
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cell Science"
DOI: 10.1242/jcs.222331
Abstract: ABSTRACT Bardet–Beidl syndrome (BBS) manifests from genetic mutations encoding for one or more BBS proteins. BBS4 loss impacts olfactory ciliation and odor detection, yet the cellular mechanisms remain unclear. Here, we report that Bbs4-/− mice… read more here.
Keywords: body number; basal body; bbs4;