Results 61 to 70 of about 13,378 (282)

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

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   +6 more sources

Ciliopathies: an Update [PDF]

Pediatrics Research International Journal, 2015
Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Pilar Codoñer-Franch, Alba Faus-Pérez, Amparo Sanchis-Calvo   +2 more
openaire   +2 more sources

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. [PDF]

, 2018
Most monogenic cases of obesity in humans have been linked to mutations in genes encoding members of the leptin-melanocortin pathway. Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in ...
A Hinney, A Marley, A Shalata, Aaron Marley, Adelaide A. Bernard, AS Garfield, BA Ersoy, Baran A. Ersoy, C Lubrano-Berthelier, C Lubrano-Berthelier, C Vaisse, C Vaisse, C Vaisse, Christian Vaisse, D Huszar, E Stergiakouli, F Hildebrandt, GA Bishop, GJ Morton, H Fenselau, JA Green, Jacqueline E. Siljee, Jeremy F. Reiter, JF Reiter, JR Davenport, KC Corbit, L Wu, M Calton, Mark Von Zastrow, MJ Krashes, N Balthasar, NF Berbari, P Aanstad, P Acs, SC Goetz, Sumei Zhang, Y Bromberg, Yi Wang, Z Wang   +38 more
core   +1 more source

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 ...
Weibin Zhou, Friedhelm Hildebrandt
openaire   +3 more sources

The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly

Biology Open, 2021
Ciliary motility is powered by a suite of highly conserved axoneme-specific dynein motor complexes. In humans, the impairment of these motors through mutation results in the disease primary ciliary dyskinesia (PCD).
Petra zur Lage, Zhiyan Xi, Jennifer Lennon, Iain Hunter, Wai Kit Chan, Alfonso Bolado Carrancio, Alex von Kriegsheim, Andrew P. Jarman   +7 more
doaj   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies. [PDF]

J Cell Commun Signal
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Yin J, Bai J, He X, He W, Miao H, Zhang M, Yu Z, Ni B.   +7 more
europepmc   +2 more sources

Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes.

Genetics, 2021
Primary cilia are sensory and signaling hubs with a protein composition that is distinct from the rest of the cell due to the barrier function of the transition zone (TZ) at the base of the cilium.
Melissa R. Bentley-Ford, Melissa LaBonty, Holly R Thomas, Courtney J. Haycraft, Mikyla Scott, Cameron Lafayette, Mandy J Croyle, Reagan S Andersen, J. Parant, B. Yoder   +9 more
semanticscholar   +1 more source

Ciliopathies: Coloring outside of the lines [PDF]

American Journal of Medical Genetics Part A, 2020
AbstractCiliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known
Hakon Hakonarson, Livija Medne, Deborah Watson, Deborah Watson, Frank D. Mentch, Erum A. Hartung, Erum A. Hartung, Alanna Strong, Dong Li, Ian D. Krantz, Ian D. Krantz, Jessica Wen, Jessica Wen, Emma Bedoukian, Joseph T. Glessner, Cara M. Skraban, Cara M. Skraban, Kevin E.C. Meyers, Kevin E.C. Meyers   +18 more
openaire   +3 more sources

A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh

Clinical Case Reports, 2022
A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation.
Mushfiq Newaz Ahmed, Nowshin Jabin, Mohammad Azmain Iktidar, Shohael Mahmud Arafat, Abed Hussain Khan, Avrow Mitra, Romana Chowdhury   +6 more
doaj   +1 more source