Results 201 to 210 of about 12,422 (262)

The Golgi matrix protein giantin is required for normal cilia function in zebrafish [PDF]

, 2017
Bergen, Dylan, Hammond, Chrissy L, Stephens, David, Stevenson, Nicola   +3 more
core   +1 more source

Should GLP-1 receptor agonist therapy be used to treat obesity in Bardet-Biedl syndrome? [PDF]

J Clin Invest
Tomlinson JW.
europepmc   +1 more source

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report. [PDF]

J Med Case Rep
Acosta-Paguada LF, Velásquez-Hernandez MS, Bonilla Medina PS, Perdomo Domínguez ES.   +3 more
europepmc   +1 more source

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications. [PDF]

Adv Sci (Weinh)
Wang Z, Zhu X, Huang Z, Ren K, Ran J, Yang Y.   +5 more
europepmc   +1 more source

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease. [PDF]

Case Rep Nephrol Dial
Jones N, Nguyen M, Le D, Hanna R.
europepmc   +1 more source

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.

Kidney Blood Press Res
Secondulfo F, Del Vecchio Blanco F, Capolongo G, Piluso G, Nigro V, Perna AF, Capasso G, Zacchia M.   +7 more
europepmc   +1 more source

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

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 Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report. [PDF]

Am J Case Rep
Ghandourah H, Basalom BA, Shawli AM, Waggass R.   +3 more
europepmc   +1 more source