Results 121 to 130 of about 2,432,528 (230)

Retinitis Pigmentosa‐Associated Gene TRIM49 Regulates ULK1‐Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium

Advanced Science, Volume 12, Issue 43, November 20, 2025.
Based on next‐generation sequencing data of retinitis pigmentosa (RP) patients and controls, this study identifies TRIM49 as a novel gene for autosomal recessive RP. TRIM49 is specifically expressed in the retinal pigment epithelium (RPE) of human retina.
Zhen Yi, Chaojuan Wen, Han Du, Yingwei Wang, Shuowei Chen, Jie Liu, Shuhan Zhang, Junwen Wang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Yi Jiang, Jiamin Ouyang, Panfeng Wang, James Fielding Hejtmancik, Wenmin Sun, Huangxuan Shen, Qingjiong Zhang   +17 more
wiley   +1 more source

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 more
doaj   +1 more source

Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development

Developmental Dynamics, Volume 254, Issue 11, Page 1187-1202, November 2025.
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N. Chaudhry, Sylvia N. Michki, Jocelynda Salvador, M. Luisa Iruela‐Arispe, Jarod A. Zepp, Saikat Mukhopadhyay, Ondine Cleaver   +8 more
wiley   +1 more source

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

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12‐Year Retrospective Analysis (2012–2023)

Acta Paediatrica, Volume 114, Issue 10, Page 2526-2534, October 2025.
ABSTRACT Aim Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system, leading to functional intestinal obstruction in neonates and young children. This study aimed to assess the epidemiology and surgical management of HSCR in France over a 12‐year period using nationwide data.
Xavier Xu Wang, Wilguy Doisy, Seydou Goro, Sadek Harichane, Mathilde Rousseau, Marc Bellaiche, Camille Jung   +6 more
wiley   +1 more source

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders [PDF]

, 2014
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male
Arcos-Burgos, M., Boguszewski, C., Boguszewski, M., Chuah, A., Huttley, G., Johar, A., Licinio, J., Mastronardi, C., Patel, H., Paz-Filho, G., Wong, M.   +10 more
core   +2 more sources

Diabetic ketoacidosis associated with tacrolimus in solid organ transplant recipients [PDF]

, 2011
Diabetic ketoacidosis in patients receiving tacrolimus in the post-transplant setting is rare. We describe two such cases in solid-organ transplant recipients.
Habib, Manal, Jafri, Wasim, Masood, Muhammad Qamar, Rabbani, Madiha, Saleem, Taimur   +4 more
core   +1 more source