Results 211 to 220 of about 16,529 (304)

Clinical Variability of ADPKD in Monozygotic Twins. [PDF]

Kidney Int Rep
Mohib O, Van Cauwelaert S, Pölsler L, Van Der Niepen P, Brussaard C, Van Vlem B, Schauer R, Harris PC, Janssens P.   +8 more
europepmc   +1 more source

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

Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis.

Cell Stem Cell, 2020
Murielle Saade, D. Ferrero, José Blanco-Ameijeiras, Elena Gonzalez-Gobartt, Marco Flores-Mendez, V. M. Ruiz-Arroyo, E. Martínez-Saez, Santiago Ramón y Cajal, N. Akizu, Nuria Verdaguer, Elisa Martí   +10 more
semanticscholar   +1 more source

Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan. [PDF]

Case Rep Med
Sholan R, Aliyev R, Bakhshaliyeva N, Almazkhanli A, Ismayilov R, Sultan M.   +5 more
europepmc   +1 more source

LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]

Front Genet
Xie XH, Gu H, Yang JL, Yuan ZZ, Qin KL, Tan ZP.   +5 more
europepmc   +1 more source

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis [PDF]

, 2017
Mariko Takahara, Yohei Katoh, Kentaro Nakamura, Tomoaki Hirano, Maho Sugawa, Yuta Tsurumi, Kazuhisa Nakayama   +6 more
openalex   +1 more source

Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function [PDF]

, 2015
Sandra Habbig, Max C. Liebau
openalex   +1 more source

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

Multimerization of Zika Virus-NS5 causes a ciliopathy and forces premature neurogenesis [PDF]

, 2019
Murielle Saade, Diego S. Ferrero, José Blanco-Ameijeiras, Elena Gonzalez-Gobartt, Victor M. Ruiz-Arroyo, Elena Martínez‐Sáez, Santiago Ramón y Cajal, Núria Verdaguer, Elisa Martı́   +8 more
openalex   +1 more source

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

Cell Reports, 2017
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, K. Nagashima, M. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, A. Cideciyan, Tiansen Li, B. Brooks, M. Gunay-Aygun, S. Jacobson, T. Cogliati, Christopher J Westlake, A. Swaroop   +14 more
semanticscholar   +1 more source