Results 121 to 130 of about 12,076 (219)

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
core  

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 more
doaj   +1 more source

Editorial: The Cytoskeleton and Cellular Compartmentation: Cilia as Specialized Cellular Domains

Frontiers in Cell and Developmental Biology, 2021
Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Helena Soares, Helena Soares, Susana S. Lopes, Takanari Inoue, Takanari Inoue   +8 more
doaj   +1 more source

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Koichi Nakanishi, Norishige Yoshikawa
openaire   +2 more sources

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

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

, 2014

core   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Clinical and Genetic Characterization of a Patient With SEC63-Related Autosomal Dominant Polycystic Liver Disease and an IFT140 Pathogenic Variant Associated With Polycystic Kidney Disease. [PDF]

Cureus
Ortega-Macías AG, Gupta U, Escobar Gil T, Memon J, García PR.   +4 more
europepmc   +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

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

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