Results 111 to 120 of about 1,464 (120)

The ciliopathy gene ftm/rpgrip1l controls mouse forebrain patterning via region-specific modulation of hedgehog/gli signaling [PDF]

, 2019
Abraham Andreu‐Cervera, Isabelle Anselme, Alice Karam, Christine Laclef, Martin Catala, Sylvie Schneider‐Maunoury   +5 more
openalex   +1 more source

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]

, 2019
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P.M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta   +27 more
openalex   +1 more source

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis [PDF]

, 2019
Yoon Seon Oh, Eric J. Wang, Casey D. Gailey, David L. Brautigan, Benjamin L. Allen, Zheng Fu   +5 more
openalex   +1 more source

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

, 2017
Sheila Castro‐Sánchez, María Álvarez‐Satta, M.A. Tohamy, Sergi Beltrán, Sophia Derdak, Diana Valverde   +5 more
openalex   +2 more sources

The digital epidemiology of dysencephalia splanchnocystica, AKA meckel–gruber syndrome: Retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Ahmed Al-Imam
doaj   +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

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

, 2019
Vítor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
openalex   +1 more source

Loss of the Reissner Fiber and increased URP neuropeptide signaling underlie scoliosis in a zebrafish ciliopathy mutant

, 2019
Christine Vesque, Isabelle Anselme, Guillaume Pézeron, Yasmine Cantaut-Belarif, Alexis Eschstruth, Morgane Djebar, Diego López Santos, Hélène Le Ribeuz, Arnim Jenett, Hanane Khoury, Joëlle Véziers, Caroline Parmentier, Sylvie Schneider‐Maunoury   +12 more
openalex   +1 more source

Rare diseases and big data : biocomputing solutions towards knowledge-guided analyses : applications to ciliopathies

, 2016
Kirsley Chennen
openalex   +1 more source

Functional characterization of the ANKS3 protein involved in renal ciliopathies and study of its role in the RNAs regulation

, 2018
Gweltas Odye
openalex   +1 more source