Results 11 to 20 of about 16,529 (304)

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies

Database, 2022
Cilia are found in eukaryotic species ranging from single-celled organisms, such as Chlamydomonas reinhardtii, to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation and differentiation, and ...
M. G. Turan, M. Orhan, S. Cevik, O. Kaplan   +3 more
semanticscholar   +3 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

Golgi Dysfunctions in Ciliopathies

Cells, 2022
The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
doaj   +4 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

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

An amino acid-resolution interactome for motile cilia illuminates the structure and function of ciliopathy protein complexes [PDF]

bioRxiv, 2023
Motile cilia are ancient, evolutionarily conserved organelles whose dysfunction underlies motile ciliopathies, a broad class of human diseases.
Caitlyn L McCafferty, Ophelia Papoulas, Chanjae Lee, Khanh Huy Bui, David W. Taylor, Edward M. Marcotte, John B. Wallingford   +6 more
openalex   +2 more sources

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis

Cells, 2019
Loss-of-function mutations in the human ICK (intestinal cell kinase) gene cause dysfunctional primary cilia and perinatal lethality which are associated with human ciliopathies.
Yoon Seon Oh, Eric J. Wang, Casey D. Gailey, David L. Brautigan, Benjamin L. Allen, Zheng Fu   +5 more
doaj   +2 more sources

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex [PDF]

Nature Communications, 2022
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies.
Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al‐Rawashdeh, Osama H. Ababneh, Mohammad El-Khateeb, Nathalie Escande‐Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner   +26 more
openalex   +2 more sources

Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology [PDF]

Science Translational Medicine, 2021
Combined induced pluripotent stem cells and airway-on-a-chip establish the global axis of planar cell polarity in patient-derived airway cell sheet. Modeling cilia Understanding the mechanisms mediating mucociliary clearance in lungs is critical for ...
Naoyuki Sone, Satoshi Konishi, Koichi Igura, Koji Tamai, Satoshi Ikeo, Y. Korogi, Shuhei Kanagaki, T. Namba, Yuki Yamamoto, Yifei Xu, Kazuhiko Takeuchi, Yuichi Adachi, Toyofumi F. Chen‐Yoshikawa, Hiroshi Date, Masatoshi Hagiwara, Sachiko Tsukita, Toyohiro Hirai, Yu‐suke Torisawa, Shimpei Gotoh   +18 more
openalex   +2 more sources

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance [PDF]

EMBO Reports, 2021
Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated.
Oksana Tsyklauri, Veronika Niederlová, Elizabeth Forsythe, Avishek Prasai, Ales Drobek, Petr Kašpárek, Kathryn P. Sparks, Zdeněk Trachtulec, Jan Procházka, Radislav Sedláček, Philip L. Beales, Martina Huranová, Ondřej Štěpánek   +12 more
openalex   +2 more sources