Results 1 to 10 of about 9,217 (165)

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.
Helen Louise May-Simera, Balendu Shekhar Jha, Vladimir Khristov   +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

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Orphanet Journal of Rare Diseases, 2019
Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the ...
Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
doaj   +3 more sources

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes [PDF]

Scientific Reports, 2022
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes.
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri   +35 more
doaj   +4 more sources

PATJ deficiency leads to cystic kidney disease and related ciliopathies [PDF]

HGG Advances
Summary: Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene remains ...
Daniel Epting, Daniela A. Braun, Eva Decker, Elisabeth Ott, Tobias Eisenberger, Nadine Bachmann, Pavel Nedvetsky, Michael P. Krahn, Friedhelm Hildebrandt, Carsten Bergmann   +9 more
doaj   +2 more sources

Liver Cirrhosis in Woman with Ciliopathy Syndrome [PDF]

Acta Medica Indonesiana, 2022
Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
doaj   +1 more source

Pathophysiological significance of cholesterol in ciliopathies [PDF]

Fujita Medical Journal
Primary cilia are sensory organelles essential for cellular signaling, the dysfunction of which causes ciliopathies, characterized by polycystic kidney disease, retinopathy, and developmental anomalies.
Takeshi Itabashi, Tomoka Morita, Moe Hirosawa, Daigo Kobayashi, Alamgir Hasan, Sotai Kimura, Hiroshi Itoh, Tatsuo Miyamoto   +7 more
doaj   +2 more sources

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis

Cells, 2019
Loss-of-function mutations in the human ICK (intestinal cell kinase) gene cause dysfunctional primary cilia and perinatal lethality which are associated with human ciliopathies.
Eric J Wang, Benjamin L Allen, Zheng Fu
exaly   +3 more sources