Results 11 to 20 of about 9,546 (191)

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).
Alessia Cimadamore, Matteo Santoni, Laura Cosmai   +2 more
exaly   +8 more sources

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   +5 more sources

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies

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
exaly   +3 more sources

Renal ciliopathies

Current Opinion in Genetics & Development, 2019
Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
core   +7 more sources

Molecular genetics of renal ciliopathies

Biochemical Society Transactions, 2021
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and ...
Miguel Barroso-Gil, Eric Olinger, John A. Sayer   +2 more
core   +8 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

Motile ciliopathies

Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia, Nielsen, Kim G., Kuehni, Claudia E., Lucas, Jane, Leigh, Margaret W., Zariwala, Maimoona A., Omran, Heymut   +6 more
core   +9 more sources

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies [PDF]

Genome Biology
Background Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex ...
Ellen M. Aarts, Diederik S. Laman Trip, Ruxandra Neatu, Charlotte G. Martin, Beth Riley, Alison Kraus, Abigail Green, Mohamed H. Al-Hamed, Rachel E. Armstrong, John A. Sayer, Ruxandra Bachmann-Gagescu, Pedro Beltrao   +11 more
doaj   +2 more sources

Ciliopathies and the Kidney: A Review [PDF]

American Journal of Kidney Diseases, 2021
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these
McConnachie, Dominique J., Stow, Jennifer, Mallett, Andrew   +2 more
openaire   +7 more sources

Renal ciliopathies

Primary cilia are essential cellular organelles with pivotal roles in many signalling pathways. Here we provide an overview of the role of primary cilia within the kidney, starting with primary ciliary structure and key protein complexes. We then highlight the specialised functions of primary cilia, emphasising their role in a group of diseases known ...
Laura A, Devlin, Rebecca M, Dewhurst, Praveen D, Sudhindar, John A, Sayer   +3 more
core   +7 more sources