Results 121 to 130 of about 12,422 (262)

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Frontiers in Pediatrics, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Virginia Mirra, Virginia Mirra, Claudius Werner, Francesca Santamaria, Francesca Santamaria   +4 more
doaj   +1 more source

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Frontiers in Genetics, 2019
Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.
Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller   +12 more
doaj   +1 more source

The importance of a single primary cilium [PDF]

, 2013
The centrosome is the main microtubule-organizing center in animal cells, and helps to influence the morphology of the microtubule cytoskeleton in interphase and mitosis. The centrosome also templates the assembly of the primary cilium, and together they
Mahjoub, Moe R
core   +2 more sources

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]

, 2019
X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid
Chang, Chia-Ching, Chen, Shih-Jen, Chien, Yueh, Chiou, Shih-Hwa, Huang, Kang-Chieh, Jane, Wann-Neng, Kuo, Jean-Cheng, Lu, Jyh-Feng, Nguyen, Phan Nguyen Nhi, Peng, Chi-Hsien, Schlaeger, Thorsten M., Shi, Michael, Tran, Audrey A., Tsai, Ping-Hsing, Wahlin, Karl J., Wang, Mong-Lien, Wang, Won-Jing, Yang, Tien-Chun, Yarmishyn, Aliaksandr A.   +18 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

Illumination of understudied ciliary kinases

Frontiers in Molecular Biosciences
Cilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.
Raymond G. Flax, Peter Rosston, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, David H. Drewry, Panagiotis Prinos, Alison D. Axtman   +10 more
doaj   +1 more source

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]

, 2009
Meral Gunay‐Aygun, Melissa A. Parisi, Dan Doherty, M. Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Barış Türkbey, Peter L. Choyke, Lisa M. Guay‐Woodford, Theo Heller, Katarzyna Szymańska, Colin A. Johnson, Ian Glass, William A. Gahl   +14 more
openalex   +1 more source

Making sense of cilia in disease: The human ciliopathies [PDF]

, 2009
Kate Baker, Philip L. Beales
openalex   +1 more source

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

Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78

Cells
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.
İlker Levent Erdem, Zeynep Bengisu Kaya, Pergin Atilla, Nagehan Emiralioğlu, Cemil Can Eylem, Emirhan Nemutlu, Uğur Özçelik, Halime Nayır Büyükşahin, Ayşenur Daniş, Elif Karakoç   +9 more
doaj   +1 more source