Results 1 to 10 of about 10,142 (202)

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy [PDF]

Pediatric Nephrology, 2018
Background: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent.
Rachel Giles, Jeroen van Reeuwijk
exaly   +6 more sources

Ciliopathy: Usher Syndrome

Advances in Experimental Medicine and Biology
There are nine known loci, USH1B to USH1K (no USH1A or USH1I).
Stephen H Tsang
exaly   +3 more sources

Ciliopathy: Bardet-Biedl Syndrome

Advances in Experimental Medicine and Biology, 2018
Stephen H Tsang
exaly  

Ciliopathy: Sjögren-Larsson Syndrome

Advances in Experimental Medicine and Biology, 2018
Stephen H Tsang
exaly  

Sperm dysfunction and ciliopathy

Reproductive Medicine and Biology, 2016
Kazuo Inaba
exaly  

An amino acid-resolution interactome for motile cilia identifies the structure and function of ciliopathy protein complexes

Developmental Cell
John Wallingford, Edward Marcotte, Caitlyn McCafferty   +2 more
exaly  

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Cell Reports, 2018
Summary: Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype.
Rajarshi Pal, Christopher Westlake, Sheldon Miller   +2 more
exaly   +4 more sources

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome [PDF]

Frontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz, Tamara D. S. Rusterholz, Claudia Hofmann, Claudia Hofmann, Ruxandra Bachmann-Gagescu, Ruxandra Bachmann-Gagescu   +5 more
doaj   +2 more sources

CiliOPD: a ciliopathy-associated COPD endotype

Respiratory Research, 2021
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities.
Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy   +3 more
doaj   +2 more sources

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Frontiers in Genetics, 2022
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating ...
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud   +18 more
doaj   +2 more sources