Results 41 to 50 of about 16,795 (294)

Hepatic Ciliopathy Syndromes

Clinical Liver Disease, 2021
Content available: Author Interview and Audio Recording.
Tamir Diamond, Noor Nema, Jessica Wen
openaire   +2 more sources

Ciliopathies and the Kidney: A Review.

American Journal of Kidney Diseases, 2020
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. Over the past two decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary ...
Dominique J. Mcconnachie, J. Stow, A. Mallett   +2 more
semanticscholar   +1 more source

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Human Mutation, 2018
Ivan Duran, Bing Li, Deborah Krakow
exaly   +2 more sources

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]

, 2016
The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy, Ismail, Shehab, Kösling, Stefanie Kristine, Wittinghofer, Alfred, Zent, Eldar   +4 more
core   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies. [PDF]

Clin Genet
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Boutaud L, Li C, Moncler C, Verlin L, Garfa-Traoré M, Bourgon N, Akbari D, Porée J, Serpieri V, Panza M, Haddad L, Nitschké P, Aziza J, Matt C, Valente EM, Gargallo P, Dubucs C, Attié-Bitach T, Leroux MR, Thomas S.   +19 more
europepmc   +2 more sources

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

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