Results 61 to 70 of about 9,301 (255)

Zebrafish Assays of Ciliopathies [PDF]

, 2011
In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A. Zaghloul, Nicholas Katsanis
openaire   +3 more sources

Ciliopathies A reference for clinicians [PDF]

Clinical Kidney Journal, 2014
This is a multi-author book encompassing 14 chapters on diseases associated with defects in proteins expressed in the primary cilia, a structure long regarded as a useless vestigial organelle. The first chapter covers our current knowledge of the structure and biology of the motile and non-motile (primary) cilia and proposes a clinical diagnosis ...
Patrick Niaudet, Laurence Heidet
openaire   +2 more sources

CiliaCarta: An integrated and validated compendium of ciliary genes.

PLoS ONE, 2019
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies.
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen   +48 more
doaj   +1 more source

Basal body stability and ciliogenesis requires the conserved component Poc1 [PDF]

, 2009
Centrioles are the foundation for centrosome and cilia formation. The biogenesis of centrioles is initiated by an assembly mechanism that first synthesizes the ninefold symmetrical cartwheel and subsequently leads to a stable cylindrical microtubule ...
Abal, Andersen, Avidor-Reiss, Azimzadeh, Badano, Bakowska, Balczon, Baron, Basmussen, Basto, Beisson, Berbari, Blachon, Bobinnec, Bobinnec, Broadhead, Brown, Bruns, Chad G. Pearson, Cheeseman, Culver, Dammermann, Dammermann, Daniel P.S. Osborn, Dupuis-Williams, Dutcher, Dutcher, Dutcher, Eddé, Eggenschwiler, Essner, Fry, Gaertig, Garreau de Loubresse, Gerdes, Graser, Gundersen, Hai, Hames, Hentschel, Hildebrandt, Hiraki, Jerka-Dziadosz, Kaczanowski, Keller, Keller, Kilburn, Kirkham, Kochanski, Le Clech, Leidel, Leidel, Leidel, Li, Liu, Mark Winey, Marshall, Marshall, Martinez-Campos, Matsuura, Million, Mottier-Pavie, Nakazawa, Nanney, Neuhauss, Orias, Paoletti, Pearson, Pearson, Pelletier, Peterkin, Philip L. Beales, Piperno, Rodrigues-Martins, Salisbury, Shang, Shang, Stemm-Wolf, Strnad, Thomas H. Giddings, Tobin, Tobin, Vladar, Westerfield, Wilkinson, Williams, Wloga, Woodland   +87 more
core   +2 more sources

Molecular genetics of renal ciliopathies

Biochemical Society Transactions, 2021
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and ...
John A. Sayer, John A. Sayer, Miguel Barroso-Gil, Eric Olinger   +3 more
openaire   +4 more sources

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Frontiers in Genetics, 2020
Joubert syndrome (JBTS) and Meckel–Gruber syndrome (MKS) are rare recessive disorders caused by defects of cilia, and they share overlapping clinical features and allelic loci.
Minna Luo, Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Yue Shen, Guangyu Zhang, Zongfu Cao, Zongfu Cao, Chao Lu, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Xu Ma, Muqing Cao   +15 more
doaj   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +2 more sources

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

Clinics and Practice, 2015
Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, Meenakshi Balasubramani   +5 more
doaj   +1 more source

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model [PDF]

, 2014
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations ...
A Amador-Arjona, A Biedl, AJ Ross, AV Loktev, C Peyron, C Rooryck, Candice Askwith, CS Carter, D Paré, DY Nishimura, ER Eichers, ES Seeley, G Keryer, GA Bishop, H Jin, HA Praetorius, IR Veland, J Yang, J Yang, J Yang, J. Patrick Card, JE Ledoux, JL Badano, JL Rosenbaum, JZ Laurence, K Baker, K Baker, K Keppler-Noreuil, K Mykytyn, K Rahmouni, Kamal Rahmouni, Karina E. Steren, Khristofor Agassandian, M Fliegauf, MA Fath, Marianna Agassandian, Milan Patel, MR Leroux, MV Nachury, N Kumamoto, NF Berbari, P Sah, PL Beales, RE Davis, RE Swiderski, RE Watson Jr, RN Cardinal, S Barnett, S Massinen, S Seo, S Zola-Morgan, SM Guadiana, ST Wong, SY Shu, Val C. Sheffield, X Chamling, Z Wang   +56 more
core   +2 more sources

Usher Syndrome: Genetics of a Human Ciliopathy [PDF]

International Journal of Molecular Sciences, 2021
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the ...
Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García   +6 more
openaire   +6 more sources