Results 111 to 120 of about 2,447,712 (252)

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome

Frontiers in Genetics
IntroductionBardet–Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance.
M. Orlova, P. Gundorova, V. Kadnikova, A. Polyakov   +3 more
doaj   +1 more source

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain   +3 more
wiley   +1 more source

Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium. [PDF]

, 2013
BACKGROUND: The primary cilium coordinates signalling in development, health and disease. Previously we have shown that the cilium is essential for the anabolic response to loading and the inflammatory response to interleukin-1β (IL-1β).
AC Lin, AK Wann, AK Wann, AM Malone, AR Sartori-Cintra, BL Thoms, BL Thoms, CA Clement, CA Clement, CF Chang, CJ Haycraft, CJ Haycraft, CR Thoma, D Kong, D Zhu, DA Hoey, DM Katschinski, E Verghese, EN Pugacheva, F Oeffner, GJ Pazour, HA Praetorius, J Kim, JB Catterall, JC Kim, JE Bohonowych, JE Lafont, JF Reiter, JH Moyer, JH Ryu, JM Gerdes, JR Marszalek, JT Eggenschwiler, KC Corbit, KC Corbit, L Schneider, M Windheim, MA Lancaster, MF Bijlsma, NV Prodromou, P Jaakkola, PD Taulman, PV Tran, R Rohatgi, RD Thornton, S Abdul-Majeed, S Kim, S Massinen, S Murakami, S Proulx-Bonneau, S Yang, SH Low, SM Nauli, SN Greer, SR McGlashan, SR McGlashan, T Caspary, TY Besschetnova, X Xue, Y Li, YJ Jung   +60 more
core   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Bardet–Biedl Syndrome in an Ethiopian

International Medical Case Reports Journal, 2021
Asamere Tsegaw,1 Tiliksew Teshome2 1Department of Ophthalmology, School of Medicine, University of Gondar, Gondar, Ethiopia; 2Department of Ophthalmology, Faculty of Medicine, Addis Ababa University, Addis Ababa, EthiopiaCorrespondence: Asamere ...
Tsegaw A, Teshome T
doaj  

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

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

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Clinical Case Reports, 2020
This article reports a girl with Bardet‐Biedl syndrome (BBS) having a novel causative mutation who developed Legg‐Calvé‐Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.
Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh   +9 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