Results 251 to 260 of about 12,876 (273)

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Hepatology, 2020
Ranad Shaheen, Saud Alsahli, Hanan E Shamseldin   +2 more
exaly  

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Science, 2012
Jeong Ho Lee, Lihadh Al-Gazali, Sophie Thomas   +2 more
exaly  

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Nature Medicine, 2020
Raghu R Chivukula, Daniel T Montoro, Hui Min Leung   +2 more
exaly  

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Cell, 2011
Rachel H Giles, Edgar A Otto, Suzie J Scales   +2 more
exaly  

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Nature Communications, 2016
Séverine Bär, Johan-Owen De Craene, Isabelle Perrault   +2 more
exaly  

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

American Journal of Human Genetics, 2015
Daniela Anne Braun, Heon Yung Gee, Timothy D Klasson   +2 more
exaly  

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Nature Medicine, 2009
Madeline A Lancaster, Sanjay K Nigam
exaly  

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

American Journal of Human Genetics, 2017
Julie C Van De Weghe, Kimberly A Aldinger, Ranad Shaheen   +2 more
exaly  

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Nature Genetics, 2011
Erica E Davis, Bill H Diplas, Katarzyna Szymanska   +2 more
exaly  

Distinguishing Ciliopathy

Science, 2012
openaire   +1 more source