Results 11 to 20 of about 13,378 (282)
Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]
International Journal of Nephrology, 2011 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Roslyn Simms +3 more
core +11 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 +3 more
semanticscholar +3 more sources
Usher Syndrome: Genetics of a Human Ciliopathy [PDF]
International Journal of Molecular Sciences, 2021 Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the
Carla Fuster-García +6 more
semanticscholar +7 more sources
Clinical Liver Disease, 2021 Content available: Author Interview and Audio Recording.
Tamir Diamond, Noor Nema, J. Wen
semanticscholar +4 more sources
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes [PDF]
Nature Cell Biology, 2015 Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global ...
G. Wheway +78 more
semanticscholar +2 more sources
Identification and bioinformatics analysis of cilia-associated gene families in Euplotes amieti (Ciliophora, Hypotrichia) [PDF]
Frontiers in MicrobiologyIntroductionCiliates serve as pivotal model organisms for investigating the protein composition and regulatory mechanisms underlying cellular processes. This study systematically explores the structural and functional characteristics of cilia-associated ...
Liheng Shen +5 more
doaj +2 more sources
A liquid-like organelle at the root of motile ciliopathy [PDF]
eLife, 2018 Motile ciliopathies are characterized by specific defects in cilia beating that result in chronic airway disease, subfertility, ectopic pregnancy, and hydrocephalus.
Ryan L Huizar +7 more
semanticscholar +3 more sources
Syndromic ciliopathy: a taiwanese single-center study [PDF]
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 +2 more sources
Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis [PDF]
Cells, 2019 Loss-of-function mutations in the human ICK (intestinal cell kinase) gene cause dysfunctional primary cilia and perinatal lethality which are associated with human ciliopathies.
Yoon Seon Oh +5 more
semanticscholar +2 more sources
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 +4 more sources