Results 1 to 10 of about 13,378 (282)

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   +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   +2 more sources

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   +2 more sources

CiliOPD: a ciliopathy-associated COPD endotype

Respiratory Research, 2021
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities.
Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy   +3 more
doaj   +2 more sources

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis

Frontiers in Pharmacology, 2022
A timely diagnosis is a key challenge for many rare diseases. As an expanding group of rare and severe monogenic disorders with a broad spectrum of clinical manifestations, ciliopathies, notably renal ciliopathies, suffer from important underdiagnosis ...
Xiaoyi Chen, Xiaoyi Chen, Xiaoyi Chen, Carole Faviez, Carole Faviez, Marc Vincent, Luis Briseño-Roa, Hassan Faour, Jean-Philippe Annereau, Stanislas Lyonnet, Mohamad Zaidan, Sophie Saunier, Nicolas Garcelon, Nicolas Garcelon, Nicolas Garcelon, Anita Burgun, Anita Burgun, Anita Burgun   +17 more
doaj   +2 more sources

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Scientific Reports, 2022
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes.
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri   +35 more
doaj   +2 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

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Cell Reports, 2018
Summary: Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype.
Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti   +25 more
doaj   +2 more sources

Novel biomarkers of ciliary extracellular vesicles interact with ciliopathy and Alzheimer’s associated proteins

Communicative & Integrative Biology, 2021
Ciliary extracellular vesicles (ciEVs), released from primary cilia, contain functional proteins that play an important role in cilia structure and functions.
Ashraf M. Mohieldin, Amal Alachkar, John Yates, Surya M. Nauli   +3 more
doaj   +2 more sources

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery [PDF]

Nature Genetics, 2016
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function.
Michinori Toriyama, Chanjae Lee, S. P. Taylor, Ivan Duran, D. Cohn, A. Bruel, Jacqueline M. Tabler, K. Drew, M. Kelly, Sukyoung Kim, Tae Joo Park, Tae Joo Park, Daniella Braun, Daniella Braun, G. Pierquin, A. Biver, K. Wagner, A. Malfroot, I. Panigrahi, B. Franco, H. A. Al-lami, Yvonne Yeung, Yeon Ja Choi, Y. Duffourd, L. Faivre, J. Rivière, Jiang Chen, Karen J. Liu, E. Marcotte, F. Hildebrandt, F. Hildebrandt, C. Thauvin-Robinet, D. Krakow, P. Jackson, J. Wallingford   +34 more
semanticscholar   +2 more sources