Results 31 to 40 of about 12,198 (227)

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

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

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

Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child

Indian Journal of Paediatric Dermatology, 2021
Introduction: Oral-facial-digital syndrome (OFDS) is a rare type of ectodermal dysplasias characterized by malformations of the face, oral cavity, and digits. The OFDS type 1 is most common and has an X-linked dominant inheritance. Case report: We report
Sameeksha Chand
doaj   +1 more source

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

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

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

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

Tectonic Proteins Are Important Players in Non-Motile Ciliopathies

Cellular Physiology and Biochemistry, 2018
Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To
Siyi Gong, Feng Ji, Bin Wang, Yingying Zhang, Xingshun Xu, Miao  Sun   +5 more
doaj   +1 more source

Centriolar Protein C2cd3 Is Required for Craniofacial Development

Frontiers in Cell and Developmental Biology, 2021
The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential
Ching-Fang Chang, Ching-Fang Chang, Kari M. Brown, Kari M. Brown, Yanfen Yang, Yanfen Yang, Samantha A. Brugmann, Samantha A. Brugmann, Samantha A. Brugmann, Samantha A. Brugmann   +9 more
doaj   +1 more source