Results 41 to 50 of about 9,301 (255)

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
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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
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The morbid genome of ciliopathies: an update [PDF]

Genetics in Medicine, 2020
Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes.In this study, we describe 125 families with ciliopathies ...
Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida, Dalal K. Bubshait, Hisham Alkuraya, Elham Almardawi, Ali Howaidi, Yasser Sabr, Ebtesam M. Abdalla, Abdullah Y. Alfaifi, Jameel Mohammed Alghamdi, Afaf Alsagheir, Ahmed Alfares, Heba Morsy, Maged H. Hussein, Mohammad A. Al–Muhaizea, Mohammad Shagrani, Essam Al Sabban, Mustafa A. Salih, Neama Meriki, Rubina Khan, Maisoon Almugbel, Alya Qari, Maha Tulba, Mohammed Mahnashi, Khalid Alhazmi, Abrar K. Alsalamah, Sawsan R. Nowilaty, Amal Alhashem, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Tarfa Alshidi, Eman AlObeid, Mona M. Alenazi, Hamad Alzaidan, Zuhair Rahbeeni, Mohammed Al–Owain, Sameera Sogaty, Mohammed Zain Seidahmed, Fowzan S. Alkuraya   +40 more
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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

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
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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
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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

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

Kidney transcriptome and cystic kidney disease genes in zebrafish

Frontiers in Physiology, 2023
Introduction: Polycystic kidney disease (PKD) is a condition where fluid filled cysts form on the kidney which leads to overall renal failure. Zebrafish has been recently adapted to study polycystic kidney disease, because of its powerful embryology and ...
Matthew Koslow, Ping Zhu, Chantal McCabe, Xiaolei Xu, Xiaolei Xu, Xueying Lin   +5 more
doaj   +1 more source

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