Results 81 to 90 of about 9,301 (255)
Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly
Cytoskeleton, EarlyView.ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley +1 more source
A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development
Frontiers in Physiology, 2018 Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities.
Anshul K. Kulkarni +7 more
doaj +1 more source
Cells, 2020 Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and ...
Eric J. Wang +3 more
doaj +1 more source
Senior- Loken Syndrome – A Ciliopathy [PDF]
Journal of Clinical and Diagnostic Research, 2014 Senior – Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto – retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of ...
Hemachandar R
doaj +1 more source
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Ocular manifestations of renal ciliopathies
Pediatric Nephrology, 2023 AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi +4 more
openaire +3 more sources
Communicative & Integrative Biology, 2021 Ciliary extracellular vesicles (ciEVs), released from primary cilia, contain functional proteins that play an important role in cilia structure and functions.
Ashraf M. Mohieldin +3 more
doaj +1 more source
661W photoreceptor cell line as a cell model for studying retinal ciliopathies [PDF]
, 2019 Copyright © 2019 Wheway, Nazlamova, Turner and Cross. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Alstrom +60 more
core +7 more sources
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies [PDF]
, 2022 Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and ...
Ayuso, Carmen +20 more
core +1 more source
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
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 +35 more
doaj +1 more source