Results 11 to 20 of about 16,795 (294)

CPLANE Complex and Ciliopathies [PDF]

Biomolecules, 2022
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP)
Jesús Eduardo Martín-Salazar, Diana Valverde   +1 more
doaj   +6 more sources

Golgi Dysfunctions in Ciliopathies

Cells, 2022
The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
doaj   +5 more sources

Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

Neurobiology of Disease, 2021
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline ...
Abraham Andreu-Cervera, Martin Catala, Sylvie Schneider-Maunoury   +2 more
exaly   +4 more sources

Ciliopathies in pediatric endocrinology [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2023
Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects.
Ilenia Cicolini, Annalisa Blasetti, Francesco Chiarelli   +2 more
doaj   +3 more sources

Agonists of prostaglandin E ₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Proceedings of the National Academy of Sciences of the United States of America, 2022
Significance Juvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available.
Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa‐Traoré, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier   +28 more
openalex   +3 more sources

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies

Database, 2022
Cilia are found in eukaryotic species ranging from single-celled organisms, such as Chlamydomonas reinhardtii, to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation and differentiation, and ...
M. G. Turan, M. Orhan, S. Cevik, O. Kaplan   +3 more
semanticscholar   +3 more sources

Exploring the Spectrum of Kidney Ciliopathies [PDF]

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
doaj   +2 more sources

Primary cilia and actin regulatory pathways in renal ciliopathies

Frontiers in Nephrology
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot, Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Thomas M. Kitzler, Elena Torban, Elena Torban   +6 more
doaj   +2 more sources

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies

Molecular Medicine
Primary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt ...
Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski   +5 more
doaj   +2 more sources

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies [PDF]

EMBO Molecular Medicine
Primary cilia are solitary organelles formed by a microtubule-based skeleton protruding in a single copy on the surface of most cells. Alterations in their function cause a plethora of human conditions collectively called the ciliopathies.
Sara Clerici, Alessandra Boletta
doaj   +2 more sources