Results 171 to 180 of about 11,057 (243)

Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease. [PDF]

Kidney Int Rep
Serrano B, Savige J.
europepmc   +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

Focal adhesion-related non-ciliary functions of CEP290. [PDF]

PLoS One
Matsuo K, Nakajima Y, Shigeta M, Kobayashi D, Sakaki S, Inoue S, Takeshita N, Ueyama A, Nishikawa K, Saba R, Yamasaki H, Yamada K, Yokoyama T, Yashiro K.   +13 more
europepmc   +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

Investigating the Role of <i>B9D1</i> in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review. [PDF]

Genes (Basel)
Campobasso G, Mercuri L, De Razza F, Cosentino A, Mele M, Monittola A, Congedo C, Calò MC, Scalcione C, D'Amuri A, Mauro S, Lattante S.   +11 more
europepmc   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies. [PDF]

J Cell Commun Signal
Yin J, Bai J, He X, He W, Miao H, Zhang M, Yu Z, Ni B.   +7 more
europepmc   +1 more source

Photoreceptor Cilia and Retinal Ciliopathies.

Cold Spring Harbor Perspectives in Biology, 2017
K. Bujakowska, Qin Liu, E. Pierce
semanticscholar   +1 more source

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia. [PDF]

Eur J Hum Genet
Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, Erol A, Yenisert F, Catalbas K, Ozbakir DH, Kocagil S, Cilingir O, Ergun MA, Kaplan OI.   +13 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