Results 81 to 90 of about 13,378 (282)

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

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

Autosomal recessive polycystic kidney disease: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2009
Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death ...
Stevanović Radmila, Glumac Sofija, Trifunović Jovanka, Međo Biljana, Nastasović Tijana, Marković-Lipkovski Jasmina   +5 more
doaj   +1 more source

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

Human Genetics, 2021
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic ...
M. Al-Hamed, W. Kurdi, R. Khan, M. Tulbah, M. Alnemer, Nada Alsahan, M. Almugbel, Rafiullah Rafiullah, M. Assoum, D. Monies, Zeeshan Shah, Z. Rahbeeni, Nada Derar, F. Hakami, Gawaher Almutairi, Afaf Alotaibi, Wafa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, B. Saeed, Hanifah Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, S. Hagos, Hadeel Elbardisy, A. Akilan, Nora Almuhana, A. Alkhalifah, M. Abouelhoda, K. Ramzan, J. Sayer, F. Imtiaz   +34 more
semanticscholar   +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

Liver Cirrhosis in Woman with Ciliopathy Syndrome

Acta Medica Indonesiana, 2022
Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
doaj  

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

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

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