Results 31 to 40 of about 12,422 (262)

Hepatic Ciliopathy Syndromes

Clinical Liver Disease, 2021
Content available: Author Interview and Audio Recording.
Jessica Wen, Jessica Wen, Tamir Diamond, Noor Nema   +3 more
openaire   +3 more sources

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Disease Models & Mechanisms, 2015
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes.
Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger   +6 more
doaj   +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

Sperm dysfunction and ciliopathy [PDF]

Reproductive Medicine and Biology, 2015
AbstractSperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution.
Katsutoshi Mizuno, Katsutoshi Mizuno, Kazuo Inaba   +2 more
openaire   +3 more sources

Exploring the Spectrum of Kidney Ciliopathies [PDF]

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC). Primary cilium contributes to the regulation of the cell cycle and protein homeostasis, that is, the balance between ...
Santoni, Matteo, Piva, Francesco, Cimadamore, Alessia, Giulietti, Matteo, Battelli, Nicola, Montironi, Rodolfo, Cosmai, Laura, Porta, Camillo   +7 more
openaire   +4 more sources

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Scientific Reports, 2022
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes.
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri   +35 more
doaj   +1 more source

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

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
openaire   +4 more sources

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