Results 151 to 160 of about 11,057 (243)

Kinase-dependent regulation of ciliary protein transport and its implications for therapy. [PDF]

Front Mol Biosci
Chaya T, Ayano Y, Furukawa T.
europepmc   +1 more source

Basel exon skipping - a novel model of disease pathogenesis to explain CEP290-associated retinal degeneration and related ciliopathies

, 2014
Adam Wojno, Theodore G. Drivas, Budd A. Tucker, Edwin M. Stone, Jean Bennett   +4 more
openalex   +1 more source

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy [PDF]

, 2017
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa   +10 more
openalex   +1 more source

Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]

Sci Rep
Bresch J, König J, Konrad M, Kollmann S, Dahmer-Heath M, Heinzow HS, Praktiknjo M, Trebicka J, Bergmann C, Schmidt HH, Schlevogt B.   +10 more
europepmc   +1 more source

Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies [PDF]

, 2017
Elizabeth N. Schock, Samantha A. Brugmann   +1 more
openalex   +1 more source

Nephronophthisis - A Genetic Cause of Ciliopathy [PDF]

, 2017
Sanjeev Kumar Jain
openalex   +1 more source

X-box promoter motif searches: From C. elegans to humans to novel candidate ciliopathies [PDF]

, 2017
Peter Swoboda
openalex   +1 more source

Editorial: Genetics and mechanism of ciliopathies

Frontiers in Genetics, 2022
Steven Lim Cho Pei, Brian Hon Yin Chung, Brian Hon Yin Chung   +2 more
openaire   +3 more sources

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies [PDF]

, 2018
Michaela Kunova Bosakova, Miroslav Vařecha, Marek Hampl, Iván Durán, Alexandru Niţă, Marcela Buchtová, Hana Dosedělová, Radek Machát, Yangli Xie, Zhenhong Ni, Jorge Martı́n, Lin Chen, Gert Jansen, Deborah Krakow, Pavel Krejčı́   +14 more
openalex   +1 more source

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies. [PDF]

Sci Adv
Khan K, Tavares E, Bishara K, Ozanturk A, Qebibo L, Frangakis S, Calame DG, Meunier I, Bocquet B, Ploski R, Al Khateeb MA, Marafi D, Mansard L, Damaj L, Lewis RA, Ullah F, Arbogast T, Ogden JP, Harion M, Willems M, Zaki MS, Bartolomaeus T, Roux AF, Lupski JR, Rydzanicz M, Jamra RA, Ramond F, Heon E, Burglen L, Davis EE.   +29 more
europepmc   +1 more source