Results 51 to 60 of about 11,057 (243)

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan   +4 more
doaj   +1 more source

Usher Syndrome

Audiology Research, 2022
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases.
Alessandro Castiglione, Claes Möller
doaj   +1 more source

Insights into the Regulation of Ciliary Disassembly

Cells, 2021
The primary cilium, an antenna-like structure that protrudes out from the cell surface, is present in most cell types. It is a microtubule-based organelle that serves as a mega-signaling center and is important for sensing biochemical and mechanical ...
Maulin M. Patel, Leonidas Tsiokas
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

Medical genetics of ciliopathies

Journal of Pediatric Genetics, 2015
Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire   +5 more sources

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

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Clinical Case Reports, 2022
We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified.
Xiangzhong Zhao, Aihua Sui, Li Cui, Zhiying Liu, Ruixiao Zhang, Yue Han, Leping Shao   +6 more
doaj   +1 more source

Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn

Cells, 2021
Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods
R. M. Hyland, S. Brody
semanticscholar   +1 more source

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source