Results 231 to 240 of about 13,378 (282)

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

Role of CSPP-L in recruitment of ciliopathy proteins to centriolar satellites and the ciliary transition zone [PDF]

, 2012
EK Aarnes, J Sternemalm, LB Pedersen, S Geimer, S Patzke, T Stokke, X Sun   +6 more
core   +2 more sources

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Severe ciliopathy-related phenotypes in mice with dysregulation of tubulin polyglutamylation [PDF]

core   +1 more source

MOESM1 of Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

, 2018
Judith G.M. Bergboer, Cameron Wyatt, Christina Austin‐Tse, Emre Yaksi, Iain A. Drummond   +4 more
openalex   +2 more sources

A network-based approach to dissect the cilia/centrosome complex interactome [PDF]

, 2014

core   +1 more source

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. [PDF]

BMC Med Inform Decis Mak
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A.   +13 more
europepmc   +1 more source

Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases. [PDF]

Int J Mol Sci
Wang X, Yin G, Yang Y, Tian X.
europepmc   +1 more source

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies. [PDF]

Diagnostics (Basel)
Margiotti K, Fabiani M, Cima A, Viola A, Monaco F, Alì C, Zangheri C, Abramo C, Coco C, Mesoraca A, Giorlandino C.   +10 more
europepmc   +1 more source