Results 31 to 40 of about 11,057 (243)
Renal ciliopathies: promising drug targets and prospects for clinical trials
Expert opinion on therapeutic targets, 2023 Introduction Renal ciliopathies represent a collection of genetic disorders characterized by deficiencies in the biogenesis, maintenance, or functioning of the ciliary complex. These disorders, which encompass autosomal dominant polycystic kidney disease
L. Devlin +2 more
semanticscholar +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]
J Paediatr Child HealthABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Lin R +5 more
europepmc +2 more sources
The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2019 Introduction/Objective. Dysfunction of the axonemal structure leads to ciliopathies. Sensory and motile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases.
Anđelković Marina +7 more
doaj +1 more source
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annual review of genomics and human genetics (Print), 2022 The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century.
J. C. Van De Weghe +2 more
semanticscholar +1 more source
Primary cilia-associated protein IFT172 in ciliopathies
Frontiers in Cell and Developmental Biology, 2023 Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng +7 more
doaj +1 more source
Proceedings of the National Academy of Sciences of the United States of America, 2022 Significance Juvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available.
Hugo Garcia +28 more
semanticscholar +1 more source
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Human Mutation, 2018 Ivan Duran, Bing Li, Deborah Krakow
exaly +2 more sources
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
Journal of Developmental Biology, 2022 Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues.
V. Karalis +2 more
semanticscholar +1 more source
Fluids and Barriers of the CNS, 2022 Background Hydrocephalus (increased ventricular size due to CSF accumulation) is a common finding in human ciliopathies and in mouse models with genetic depletion of the multiciliated cell (MCC) cilia machinery.
Yuechuan Xue +14 more
semanticscholar +1 more source
British Journal of Biomedical Science, 2022 The definition of a rare disease in the European Union describes genetic disorders that affect less than 1 in 2,000 people per individual disease; collectively these numbers amount to millions of individuals globally, who usually manifest a rare disease ...
K. Modarage, S. Malik, P. Goggolidou
semanticscholar +1 more source