Results 11 to 20 of about 11,057 (243)

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

The morbid genome of ciliopathies: an update [PDF]

Genetics in Medicine, 2020
Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes.In this study, we describe 125 families with ciliopathies ...
Hanan E Shamseldin, Ranad Shaheen, Yasser Sabr   +2 more
exaly   +6 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

Ciliopathies and the Kidney: A Review. [PDF]

American Journal of Kidney Diseases, 2020
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. Over the past two decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary ...
Dominique J. Mcconnachie, J. Stow, A. Mallett   +2 more
semanticscholar   +5 more sources

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia [PDF]

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +2 more sources

Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure [PDF]

Kidney International Reports
Introduction: Variants in the WDR19 gene, a crucial component of the intraflagellar transport (IFT) complex A, are associated with renal-cystic ciliopathies, a prevalent cause of renal failure of genetic origin.
Omer Shlomovitz, Yam Ben-Haim, Netanel Eisenstein, Leah Armon, Igor Grinberg, Sylvie Polak-Charcon, Danit Atias-Varon, Guy Chowers, Dror Ben-Ruby, Achia Urbach, Asaf Vivante   +10 more
doaj   +2 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   +4 more sources

Genes and molecular pathways underpinning ciliopathies

Nature Reviews Molecular Cell Biology, 2017
Jeremy F Reiter, Michel R Leroux
exaly   +2 more sources

Using Paramecium as a Model for Ciliopathies [PDF]

Genes, 2021
Paramecium has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. However, the large number and patterning of cilia
M. Valentine, J. Van Houten
semanticscholar   +4 more sources

Making sense of cilia in disease: The human ciliopathies [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2009
Kate Baker
exaly   +2 more sources