LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]
Front GenetXie XH +5 more
europepmc +1 more source
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]
, 2016 Norann A. Zaghloul +2 more
core +1 more source
Primary cilia function as hubs for signal transduction. [PDF]
Cell BiosciLi B, He YY, Yang ZM.
europepmc +1 more source
PATJ deficiency leads to cystic kidney disease and related ciliopathies. [PDF]
HGG AdvEpting D +9 more
europepmc +1 more source
New Insights into the Molecular Actions of Grosheimin, Costunolide, and α- and β-Cyclocostunolide on Primary Cilia Structure and Hedgehog Signaling. [PDF]
Int J Mol SciMurillo-Pineda M +8 more
europepmc +1 more source
In situ proximity ligation assay for analysing spatial interactions between ciliary proteins. [PDF]
BMC Mol Cell BiolPfirrmann T, Rüther U, Gerhardt C.
europepmc +1 more source
Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies. [PDF]
Front Mol BiosciSayer JA, Omran H, Zietkiewicz E.
europepmc +1 more source
Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]
Sci RepBresch J +10 more
europepmc +1 more source
A Fetus with Ciliopathy Caused by a <i>RSPH4A</i> Variant Diagnosed Due to Increased Ventricular Size. [PDF]
J Med UltrasoundZhen L, Li DZ.
europepmc +1 more source