Results 171 to 180 of about 16,795 (294)

Editorial: Genetics and mechanism of ciliopathies

Frontiers in Genetics, 2022
Steven Lim Cho Pei, Brian Hon Yin Chung, Brian Hon Yin Chung   +2 more
doaj   +1 more source

The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase [PDF]

, 2016
Caezar Al-Jassar, Antonina Andreeva, Deepak D. Barnabas, Stephen H. McLaughlin, C. Mark Johnson, Minmin Yu, M. van Breugel   +6 more
openalex   +1 more source

Cilium-by-cilium: unveiling hidden proteomic diversity and the molecular basis of ciliopathies. [PDF]

Signal Transduct Target Ther
Chiong M, Li H, Lavandero S.
europepmc   +1 more source

The ciliopathy gene product Cep290 is required for primary cilium formation and microtubule network organization

, 2018
Elif Nur Firat‐Karalar
openalex   +1 more source

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy [PDF]

, 2020
Benjamin Cogné, Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, D. Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J. Bowne, Elizabeth L. Cadena, Stephen P. Daiger, Kinga M. Bujakowska, Eric A. Pierce, Michael B. Gorin, Nicholas Katsanis, Stéphane Bezieau, Simon M. Petersen‐Jones, Laurence M. Occelli, Leslie A. Lyons, Laurence Legeai‐Mallet, Lori S. Sullivan, Erica E. Davis, Bertrand Isidor, Reuben M. Buckley, Danielle Aberdein, Paulo C. Alves, Gregory S. Barsh, Rebecca R. Bellone, Tomas F. Bergström, Adam R. Boyko, Jeffrey A. Brockman, Margret L. Casal, Marta G. Castelhano, O. Distl, Nicholas H. Dodman, N. Matthew Ellinwood, Jonathan E. Fogle, Oliver P. Forman, Dorian J. Garrick, Edward I. Ginns, Jens Häggström, Victoria L. Harvey, Daisuke Hasegawa, Bianca Haase, Chris R. Helps, Isabel Hernández, Marjo K. Hytönen, Maria Kaukonen, Christopher B. Kaelin, Tomoki Kosho, Emilie Leclerc, T.L. Lear, Tosso Leeb, Ronald H. L. Li, Hannes Lohi, M. Longeri, Mark A. Magnuson, Richard Malík, Shrinivasrao P. Mane, John S. Munday, William J. Murphy, Niels C. Pedersen, Max F. Rothschild, Clare Rusbridge, Beth Shapiro, Joshua A. Stern, William F. Swanson, Karen A. Terio, Rory J. Todhunter, Wesley C. Warren, Elizabeth A. Wilcox, Julia H Wildschutte, Yoshihiko Yu   +76 more
openalex   +1 more source

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

, 2014

core   +1 more source

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. [PDF]

J Cell Sci
Bachmann-Gagescu R, Sayer JA.
europepmc   +1 more source

Ciliopathies

, 2018
Fabien Ho, Henry Knipe, Daniel Bell
openaire   +1 more source

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies [PDF]

, 2018
Iker Sánchez‐Navarro, Luciana R. J. da Silva, Fiona Blanco‐Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, María Isabel López-Molina, Blanca Garcı́a-Sandoval, Saoud Tahsin Swafiri, Pablo Mínguez, Rosa Riveiro-Álvarez, Isabel Lorda, Rocío Sánchez-Alcudia, Raquel Pérez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Håkon Håkonarson, Almudena Ávila‐Fernández, Marta Cortón, Carmen Ayuso   +20 more
openalex   +1 more source

Primary ciliary dyskinesia phenotypes and correlation with genotype. [PDF]

Curr Opin Pulm Med
Horani A, Wee W, Omran H, Ferkol T.
europepmc   +1 more source