Results 181 to 190 of about 9,301 (255)

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

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

, 2017
Elizabeth N. Schock, Samantha A. Brugmann   +1 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

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies. [PDF]

Commun Med (Lond)
Smith CEL, Streets AJ, Lake AVR, Natarajan S, Best SK, Szymanska K, Karwatka M, Stevenson T, Trowbridge R, Grant G, Grellscheid SN, Foster R, Morrison CG, Mavria G, Bond J, Ong ACM, Johnson CA.   +16 more
europepmc   +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

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]

Turk J Ophthalmol
Aksoy B, Tigrel G.
europepmc   +1 more source

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

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

Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery. [PDF]

Mol Cell Proteomics
Beyer T, Diwan GD, Leonhard T, Dahlke K, Klose F, Stehle IF, Seda M, Bolz S, Woerz F, Russell RB, Jenkins D, Ueffing M, Boldt K.   +12 more
europepmc   +1 more source