Results 11 to 20 of about 9,758 (194)
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 +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 +1 more
doaj +5 more sources
Metabolic Reprogramming in Polycystic Kidney Disease and Other Renal Ciliopathies
EMBO Molecular MedicinePrimary 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
Tectonic Proteins Are Important Players in Non-Motile Ciliopathies [PDF]
Cellular Physiology and Biochemistry, 2018 Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To
Miao Sun, Xingshun Xu
exaly +4 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. +2 more
openaire +7 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 +2 more
doaj +3 more sources
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 +5 more sources
Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies [PDF]
Genome BiologyBackground 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 +11 more
doaj +2 more sources
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 +3 more
core +4 more sources
Primary Cilia and Actin Regulatory Pathways in Renal Ciliopathies
Frontiers in NephrologyCiliopathies 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 ...
Elena Torban, Thomas M Kitzler
exaly +3 more sources