Results 1 to 10 of about 9,301 (255)

Nephronophthisis: a genetically diverse ciliopathy. [PDF]

International Journal of Nephrology, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Eley, L., Hynes, A.M., Sayer, J.A., Simms, R.J.   +3 more
core   +10 more sources

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA [PDF]

Nature Communications
Primary cilia are dynamic sensory organelles orchestrating key signaling pathways, and disruption of primary ciliogenesis is implicated in a spectrum of genetic disorders. The peroxisomal bifunctional enzyme HSD17B4 is pivotal for peroxisomal β-oxidation
Ji-Eun Bae, Soyoung Jang, Joon Bum Kim, Na Yeon Park, Doo Sin Jo, Hyejin Hyung, Pansoo Kim, Min-Seon Kim, Hong-Yeoul Ryu, Hyun-Shik Lee, Dong-Seok Lee, Myriam Baes, Zae Young Ryoo, Dong-Hyung Cho   +13 more
doaj   +2 more sources

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1 [PDF]

Cell & Bioscience, 2023
Background The cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies, including polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), and oral-facial-digital syndrome ...
Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang   +6 more
doaj   +2 more sources

Syndromic ciliopathy: a taiwanese single-center study [PDF]

BMC Medical Genomics
Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai   +10 more
doaj   +2 more sources

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Orphanet Journal of Rare Diseases, 2019
Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the ...
Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
doaj   +2 more sources

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity [PDF]

Orphanet Journal of Rare Diseases
Background Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential treatments have been recently ...
Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun   +8 more
doaj   +2 more sources

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. [PDF]

, 2019
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects ...
Ajzenberg, Amirav, An, Arts, Bachmann-Gagescu, Belkadi, Beltran, Beltran, Best, Bibikova, Blum, Boaretto, Boon, Boycott, Boyd, Branham, Budny, Bujakowska, Bujakowska, Burnight, Buskin, Cardenas-Rodriguez, Chamling, Cong, Consortium, Coppieters, Davis, Davis, Deng, Deng, Dheensa, Drivas, Dunn, Eisenberger, Ellingford, Estrada-Cuzcano, Fassad, Fiorentino, Firth, Fliegauf, Fokkema, Forsythe, Gainotti, Gaudelli, Gaush, Goetz, Graham, Gurrieri, Hamada, Harris, Hartill, Hildebrandt, Hirst, Huber, Hynes, Irving, Jainchill, Jones, Karczewski, Katsanis, Kenny, Khanna, Khera, Kim, Kim, King, Knopp, Knowles, Knowles, Koblan, Kodra, Komlosi, Komor, Konishi, Krusche, Kuek, Kuwahara, Köhler, Lakowski, Landrum, Langousis, Lee, Lek, Li, Li, Lindstrand, Lord, Lucas, Lucas, Lucas, Marshall, Marshall, McIntyre, McIntyre, Mestek-Boukhibar, Meyer, Mitchison, Mitchison, Moayyeri, Mok, Molinari, Moore, Moss, Mossotto, Norris, Nouri, Ormondroyd, Oud, Paff, Parisi, Perantoni, Pollard, Project Team, Rafferty, Rambhatla, Ran, Rauchman, Reiter, Robinson, Samuel, Sawyer, Schmidts, Schmidts, Schock, Shoemark, Simpson, Singla, Slaats, Soden, Song, Song, Spassky, Srivastava, Stenson, Thiel, Turnbull, Vervoort, Vincensini, Walentek, Waters, Welch, Wheway, Wheway, Wheway, Willey, Wolf, Wood, Wright, Wright, Wu, You, Zaki, Zhang   +152 more
core   +4 more sources

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy [PDF]

, 2015
Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan Fathy, Sophie Saunier, Valérie Cormier‐Daire, Sophie Thomas, Tania Attié‐Bitach, Nathalie Boddaert, Michael J. Taschner, Markus Schueler, Esben Lorentzen, Richard P. Lifton, Edgar A. Otto, Philippe Bastin, Josseline Kaplan, Friedhelm Hildebrandt, Jean‐Michel Rozet   +20 more
core   +3 more sources

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Frontiers in Genetics, 2022
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating ...
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud   +18 more
doaj   +1 more source

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Frontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz, Tamara D. S. Rusterholz, Claudia Hofmann, Claudia Hofmann, Ruxandra Bachmann-Gagescu, Ruxandra Bachmann-Gagescu   +5 more
doaj   +1 more source