Results 1 to 10 of about 16,795 (294)

Sustained glymphatic transport and impaired drainage to the nasal cavity observed in multiciliated cell ciliopathies with hydrocephalus

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, Zachary H. Gursky, Brittany Monte, S. Koundal, Xiaodan Liu, Hedok Lee, T. Michurina, Kennelia Mellanson, Lucy Zhao, A. Nemajerova, K. Kahle, K. Takemaru, G. Enikolopov, N. Peunova, H. Benveniste   +14 more
semanticscholar   +1 more source

Mouse models of ciliopathies: the state of the art

Disease Models & Mechanisms, 2012
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
doaj   +1 more source

Tectonic Proteins Are Important Players in Non-Motile Ciliopathies

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
Siyi Gong, Feng Ji, Bin Wang, Yingying Zhang, Xingshun Xu, Miao  Sun   +5 more
doaj   +1 more source

A centriole's subdistal appendages: contributions to cell division, ciliogenesis and differentiation [PDF]

Open Biology, 2021
The centrosome is a highly conserved structure composed of two centrioles surrounded by pericentriolar material. The mother, and inherently older, centriole has distal and subdistal appendages, whereas the daughter centriole is devoid of these appendage ...
Nicole A. Hall, Heidi Hehnly
doaj   +1 more source

Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies. [PDF]

Front Mol Biosci
Sayer JA, Omran H, Zietkiewicz E.
europepmc   +2 more sources

Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases

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

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Journal of Medical Genetics, 2022
Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018.
Sunayna Best, Jing Yu, J. Lord, Matthew Roché, C. Watson, R. Bevers, A. Stuckey, S. Madhusudhan, Rosalyn Jewell, S. Sisodiya, Siying Lin, Stephen Turner, H. Robinson, Joseph S. Leslie, E. Baple, C. Toomes, C. Inglehearn, G. Wheway, Colin A. Johnson   +18 more
semanticscholar   +1 more source

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Frontiers in Molecular Biosciences, 2022
Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato, Brais Bea-Mascato, Elena Neira-Goyanes, Elena Neira-Goyanes, Antía Iglesias-Rodríguez, Antía Iglesias-Rodríguez, Diana Valverde, Diana Valverde   +7 more
doaj   +1 more source

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Journal of Human Genetics, 2021
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities.
A. Hammarsjö, M. Pettersson, D. Chitayat, A. Handa, B. Anderlid, M. Bartocci, Donald G Basel, Dominyka Batkovskyte, A. Beleza‐Meireles, P. Conner, Jesper Eisfeldt, K. Girisha, B. Chung, E. Horemuzova, H. Hyodo, L. Korņejeva, Kristina Lagerstedt-Robinson, A. Lin, Måns Magnusson, Shahida Moosa, Shalini S. Nayak, D. Nilsson, H. Ohashi, N. Ohashi-Fukuda, H. Stranneheim, F. Taylan, Rasa Traberg, Ulrika Voss, V. Wirta, A. Nordgren, G. Nishimura, A. Lindstrand, G. Grigelioniene   +32 more
semanticscholar   +1 more source

Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies

JCI Insight, 2022
Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie, Julien C. Habif, Kirill Ukhanov, Cedric R. Uytingco, Lian Zhang, Robert J. Campbell, Jeffrey R. Martens   +6 more
doaj   +1 more source