Results 101 to 110 of about 12,876 (273)
eLife, 2017 The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
Ralph Marcucio
doaj +1 more source
Translational Retinal Research and Therapies. [PDF]
, 2018 The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D +7 more
core +1 more source
Functional modelling of a novel mutation in BBS5. [PDF]
, 2014 BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties ...
Al-Fadhly, F. +9 more
core +2 more sources
Alzheimer's &Dementia, Volume 21, Issue S7, December 2025.Abstract Background Primary cilia are microtubule‐based organelles, extending from the surface of vascular endothelial cells to sense extracellular signaling cues and fluid‐shear stress. Cilia dysfunctions (ciliopathies) manifest a broad range of symptoms, including vascular dysfunction, hypertension (HTN) and cognitive and memory dysfunction.
Clare Sunderman +4 more
wiley +1 more source
Syndromic ciliopathy: a taiwanese single-center study
BMC Medical GenomicsBackground Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Yu-Wen Pan +10 more
doaj +1 more source
Frontiers in Pediatrics, 2017 Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Virginia Mirra +4 more
doaj +1 more source
The importance of a single primary cilium [PDF]
, 2013 The centrosome is the main microtubule-organizing center in animal cells, and helps to influence the morphology of the microtubule cytoskeleton in interphase and mitosis. The centrosome also templates the assembly of the primary cilium, and together they
Mahjoub, Moe R
core +2 more sources
Frontiers in Genetics, 2019 Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.
Elise Schaefer +12 more
doaj +1 more source