Results 151 to 160 of about 13,378 (282)

Modelling ciliopathy phenotypes in human tissues derived from pluripotent stem cells with genetically ablated cilia

Nature Biomedical Engineering, 2022
N. Cruz, R. Reddy, José L. McFaline-Figueroa, C. Tran, Hongxia Fu, Benjamin S. Freedman   +5 more
semanticscholar   +1 more source

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +2 more sources

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. [PDF]

, 2006
Nansheng Chen, Allan K. Mah, Oliver E. Blacque, Jeffrey Chu, Kiran Phgora, Mathieu W. Bakhoum, C Rebecca Hunt Newbury, Jaswinder Khattra, Susanna Chan, Anne Go, Evgeni Efimenko, Robert Johnsen, Prasad Phirke, Peter Swoboda, Marco A. Marra, Donald G. Moerman, Michel R. Leroux, David L. Baillie, Lincoln Stein   +18 more
openalex   +1 more source

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. [PDF]

, 2015
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly.
Daniel H. Cohn, Deborah A. Nickerson, Deborah Krakow, Ivan Duran, Jay Shendure, Michael J. Bamshad, null null, Ralph S. Lachman, Richard B. Vallee, S. Paige Taylor, Stanley F. Nelson, Sulin Wu, Tiago J. Dantas   +12 more
core   +2 more sources

What’s new in… Ciliopathies

Medicine, 2011
Primary cilia are hair-like organelles expressed by almost every cell in the body. Although they were first recognized at the end of the 19th century, their functions remained obscure until the last decade. It is increasingly recognized that disorders of cilia structure or function underlie a number of rare human genetic diseases that affect the kidney
Albert C.M. Ong, Albert C.M. Ong, Marie-Claire Gubler, Marie-Claire Gubler   +3 more
openaire   +2 more sources

Shaping the sound of voice

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

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies [PDF]

, 2009
Loubna El Zein, Aouatef Ait‐Lounis, Laurette Morlé, J. Thomas, Brigitte Chhin, Nathalie Spassky, Walter Reith, Bénédicte Durand   +7 more
openalex   +1 more source

Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes

Journal of Clinical Investigation, 2018
Ciliopathies are clinically overlapping genetic disorders involving structural and functional abnormalities of cilia. Currently, there are no small-molecule drugs available to treat ciliary defects in ciliopathies.
Yong Joon Kim, Sungsoo Kim, Yooju Jung, Eunji Jung, H. Kwon, Joon Kim   +5 more
semanticscholar   +1 more source