Results 71 to 80 of about 12,198 (227)

Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling

eLife
Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, Takehisa Kudo, Jun Nihara, Madoka Kitamura, Takahiro Nagai, Vanessa Utama, Yoko Ishida, Fumiya Meguro, Alex Kesuma, Akira Fujita, Takayuki Nishimura, Yuan Kogure, Satoshi Maruyama, Jun-ichi Tanuma, Yoshito Kakihara, Takeyasu Maeda, Sarah Ghafoor, Roman H Khonsari, Pierre Corre, Paul T Sharpe, Martyn Cobourne, Brunella Franco, Atsushi Ohazama   +24 more
doaj   +1 more source

Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

Clinical Case Reports, 2023
Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci, Francesca Tunesi, Liliana Italia De Rosa, Paola Carrera, Giulia Mancassola, Martina Catania, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +7 more
doaj   +1 more source

Development and disease of the photoreceptor cilium [PDF]

, 2009
Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams, Apfeld, Arikawa, Arts, Baker, Barnes, Blacque, Blacque, Boon, Cole, Cole, Connell, Davenport, Davis, Fliegauf, Gao, Goldberg, Hartong, Hong, Humphries, Insinna, Insinna, Jansen, Jimeno, Kozminski, Krock, Leroux, Liu, Liu, Liu, Marszalek, Moore, Moritz, Nachury, Nir, Ou, Pazour, Pedersen, Reiners, Roepman, Sanyal, Sukumaran, Tobin, Travis, Weil, Williams, Wright, Young, Zhao   +48 more
core   +1 more source

Accelerated age-related olfactory decline among type 1 Usher patients [PDF]

, 2016
Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported.
António, N, Hummel, T, Oliveiros, B, Paiva, A, Pereira, P, Ribeiro, JC, Silva, E   +6 more
core   +1 more source

Exploring the role of fallopian ciliated cells in the pathogenesis of high-grade serous ovarian cancer [PDF]

, 2018
High-grade serous epithelial ovarian cancer (HGSOC) is the fifth leading cause of cancer death in women and the first among gynecological malignancies. Despite an initial response to standard chemotherapy, most HGSOC patients relapse.
Baldassarre G, Bianchet R, Cesaratto L, Coan M, Dassi E, Gardenal E, Nicoloso MS, Rampioni Vinciguerra GL, Spizzo R, Vecchione A   +9 more
core   +1 more source

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

Frontiers in Genetics, 2021
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are ...
Intisar Al Alawi, Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, Issa Al Salmi, John A. Sayer, John A. Sayer, John A. Sayer   +10 more
doaj   +1 more source

Cystic kidney diseases: many ways to form a cyst [PDF]

, 2012
Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core   +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 role for Tctex-1 (DYNLT1) in controlling primary cilium length [PDF]

, 2011
The microtubule motor complex cytoplasmic dynein is known to be involved in multiple processes including endomembrane organization and trafficking, mitosis, and microtubule organization.
MacCarthy-Morrogh, LJ, Miss Nicola, Smyllie, Palmer, KJ, Stephens, DJ   +3 more
core   +1 more source

Ocular manifestations of renal ciliopathies

Pediatric Nephrology, 2023
AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige   +4 more
openaire   +3 more sources