Results 51 to 60 of about 13,378 (282)

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

EMBO Reports, 2021
Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated.
Oksana Tsyklauri, Veronika Niederlova, E. Forsythe, Avishek Prasai, A. Drobek, P. Kasparek, K. Sparks, Z. Trachtulec, J. Procházka, R. Sedláček, P. Beales, Martina Huranová, Ondřej Štěpánek   +12 more
semanticscholar   +1 more source

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
core   +2 more sources

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

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

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

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies. [PDF]

Andrology
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Cavarocchi E, Drouault M, Ribeiro JC, Simon V, Whitfield M, Touré A.   +5 more
europepmc   +2 more sources

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

European Journal of Human Genetics, 2021
Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell.
Cenna Doornbos, R. van Beek, E. Bongers, D. Lugtenberg, P. Klaren, L. Vissers, R. Roepman, M. Oud   +7 more
semanticscholar   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

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

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Molecular Syndromology, 2021
Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these ...
M. Alfadhel, Muhammad Umair, B. Almuzzaini, Abdulaziz Asiri, Abeer Al Tuwaijri, Khaloud Alhamoudi, Yusra Alyafee, M. Al‐Owain   +7 more
semanticscholar   +1 more source