Results 91 to 100 of about 9,301 (255)

Autonomous and non-cell autonomous role of cilia in structural birth defects in mice [PDF]

, 2023
Ciliopathies are associated with wide spectrum of structral birth defects (SBDs), indicating impoartant roles for cilia in decelopment , here we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in ...
Agustin, Jovenal T.San, Cui, Cheng, Eguether, Thibaut, Follit, John A., Francis, Richard J.B., Jonassen, Julie A., Lo, Cecilia W., Pazour, Gregory, Rogers, Heather L.Szabo   +8 more
core   +1 more source

Coordination of IFT20 With Other IFT Components Is Required for Ciliogenesis

Journal of Clinical Laboratory Analysis, EarlyView.
Intraflagellar transport is a bidirectional transport system essential for ciliogenesis. Using the IFT20 knockout cell lines established in this study, we found that IFT20 deficiency significantly impaired ciliogenesis and reduced cilium length. Further investigation revealed that IFT20 interacted with other IFT proteins and regulated their levels and ...
Weishu Wang, Ying Shan, Ruming Liu, Dengwen Li, Jun Zhou, Quanlong Lu, Huijie Zhao   +6 more
wiley   +1 more source

Mechanisms of Nephronophthisis and Related Ciliopathies [PDF]

Nephron Experimental Nephrology, 2010
An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light ...
Friedhelm Hildebrandt, Toby W. Hurd
openaire   +2 more sources

Ciliary Hedgehog signaling regulates cell survival to build the facial midline

eLife, 2021
Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
doaj   +1 more source

Expanding CEP290 mutational spectrum in ciliopathies [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractCiliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel ...
Roberta Battini, J. Hahn, Trudy McKanna, Padraic Grattan-Smith, Banu Anlar, Bruria Ben-Zeev, Matloob Azam, E. Del Giudice, A. Pessagno, Ignacio Pascual-Castroviejo, Kalpathy S. Krishnamoorthy, Jerlyn C Tolentino, M. Di Giacomo, R. De Vescovi, Kathryn J. Swoboda, G. Marra, A. Permunian, Asma A. Al-Tawari, E. Finsecke, Hülya Kayserili, A. Adami, Silvana Briuglia, Elliott H. Sherr, Tania Attié-Bitach, Christopher A. Walsh, Franco Stanzial, David G. Brooks, R. Van Coster, Anna Rajab, Laila Bastaki, Dorit Lev, Itxaso Marti, J. Milisa, F. Benedicenti, Marzia Pollazzon, Robert P. Cruse, Miriam Iannicelli, Miriam Iannicelli, Maria Teresa Divizia, T. E. Gallager, Mary Kay Koenig, Enrico Bertini, Gaetano Tortorella, P. Ludvigsson, Luigina Spaccini, V. Sabolic Avramovska, Corrado Romano, Pierangela Castorina, Jane A. Hurst, Maha S. Zaki, Pasquale Parisi, Atıl Yüksel, H. Raynes, M. L. Di Sabato, Jean-Michel Rozet, Luciana Rigoli, E. DeMarco, Josseline Kaplan, William B Dobyns, Andreas Zankl, Andreas Zankl, Stefania Bigoni, Christopher P. Bennett, Elisa Fazzi, Heike Philippi, Amy Goldstein, A. M. Laverda, A. Seward, Wendy K. Chung, M. Akcakus, Lorenzo Pinelli, Sabrina Signorini, Renaud Touraine, Lucio Giordano, Shubha R. Phadke, Maria Roberta Cilio, Renato Borgatti, Faustina Lalatta, Rita Fischetto, Raoul C.M. Hennekam, Marilena Briguglio, Kenton R. Holden, A. Moreira, J. Caldwell, S. Romano, Daria Riva, Gian M. Ghiggeri, Roshan Koul, Alex Magee, Serap Teber, S. Bernes, Darryl C. De Vivo, S. Sigaudy, Bernard Stuart, Marc D'Hooghe, László Sztriha, Bernard L. Maria, Terry D. Sanger, Carmelo Salpietro, Clara Barbot, M.A. Donati, Barbara Scelsa, D. Greco, Vincenzo Leuzzi, Alessandro Simonati, P. Collignon, D. Nicholl, L. Martorell Sampol, Edward Blair, Gustavo Maegawa, Alessandra Ferlini, S. Halldorsson, André Mégarbané, Francesco Brancati, Francesco Brancati, Patrizia Accorsi, Carla Uggetti, L. I. Al Gazali, L. Demerleir, P. De Lonlay, M. Silengo, Enza Maria Valente, Enza Maria Valente, Isabelle Perrault, C. G. Woods, Nicole I. Wolf, Ghada M. H. Abdel-Salam, Alice Abdel-Aleem, Richard J. Leventer, Clotilde Lagier-Tourenne, Brunella Mancuso, Brunella Mancuso, Ryan D. Schubert, Silvia Battaglia, C. Daugherty, Angela Barnicoat, Francesca Faravelli, Bruno Dallapiccola, Bruno Dallapiccola, V. Udani, Dominika Swistun, David Viskochil, Kathrin Ludwig, Loredana Boccone, Yves Sznajer, Susana Quijano-Roy, Gianluca Caridi, Joseph G. Gleeson, C. Ae Kim, K. Dias, G. Uziel, Jean Messer, Petter Strømme, Melissa Lees, M. Cazzagon, M. M. De Jong, Alex E. Clark, Marina Michelson, Dean Sarco, Sophie Audollent, Agnese Suppiej, S. Comu, S. Kitsiou Tzeli, C. Moco, D. Petkovic, Lorena Travaglini, Lorena Travaglini, Eamonn Sheridan, B. Rodriguez, Ender Karaca, C. Donahue, Henry Sanchez, J. Johannsdottir, Andreas R. Janecke   +173 more
openaire   +10 more sources

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

Clinical Ophthalmology, 2021
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA, Ramos F, Izquierdo NJ, Oliver AL   +3 more
doaj  

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

Frontiers in Cell and Developmental Biology, 2021
The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex ...
Kerstin Hasenpusch-Theil, Kerstin Hasenpusch-Theil, Thomas Theil, Thomas Theil   +3 more
doaj   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Congenital hepatic fibrosis: case report and review of literature

The Pan African Medical Journal, 2021
Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui, Zainab Rifai, Salahiddine Saghir, Anas Ayad, Najat Lamalmi, Rachid Abilkassem, Aomar Agadr   +6 more
doaj   +1 more source