Works matching DE "CILIOPATHY"

Results: 195
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    Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1566
    By:
    • Ning, Ke;
    • Song, Emilie;
    • Sendayen, Brent E.;
    • Prosseda, Philipp P.;
    • Chang, Kun‐Che;
    • Ghaffarieh, Alireza;
    • Alvarado, Jorge A.;
    • Wang, Biao;
    • Haider, Kathryn M.;
    • Berbari, Nicolas F.;
    • Hu, Yang;
    • Sun, Yang
    Publication type:
    Article
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    Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0
    By:
    • Calinescu-Tuleasca, Ana-Maria;
    • Bottani, Armand;
    • Rougemont, Anne-Laure;
    • Birraux, Jacques;
    • Gubler, Marie-Claire;
    • Coultre, Claude;
    • Majno, Pietro;
    • Mentha, Gilles;
    • Girardin, Eric;
    • Belli, Dominique;
    • Wildhaber, Barbara
    Publication type:
    Article
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    Molecular basis promoting centriole triplet microtubule assembly.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46454-x
    By:
    • Takeda, Yutaka;
    • Chinen, Takumi;
    • Honda, Shunnosuke;
    • Takatori, Sho;
    • Okuda, Shotaro;
    • Yamamoto, Shohei;
    • Fukuyama, Masamitsu;
    • Takeuchi, Koh;
    • Tomita, Taisuke;
    • Hata, Shoji;
    • Kitagawa, Daiju
    Publication type:
    Article
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    Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2
    By:
    • Accogli, Andrea;
    • Shakya, Saurabh;
    • Yang, Taewoo;
    • Insinna, Christine;
    • Kim, Soo Yeon;
    • Bell, David;
    • Butov, Kirill R.;
    • Severino, Mariasavina;
    • Niceta, Marcello;
    • Scala, Marcello;
    • Lee, Hyun Sik;
    • Yoo, Taekyeong;
    • Stauffer, Jimmy;
    • Zhao, Huijie;
    • Fiorillo, Chiara;
    • Pedemonte, Marina;
    • Diana, Maria C.;
    • Baldassari, Simona;
    • Zakharova, Viktoria;
    • Shcherbina, Anna
    Publication type:
    Article
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    Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-ΔC.

    Published in:
    Cancers, 2020, v. 12, n. 11, p. 3484, doi. 10.3390/cancers12113484
    By:
    • Meyenberg Cunha-de Padua, Monique;
    • Fabbri, Lucilla;
    • Dufies, Maeva;
    • Lacas-Gervais, Sandra;
    • Contenti, Julie;
    • Voyton, Charles;
    • Fazio, Sofia;
    • Irondelle, Marie;
    • Mograbi, Baharia;
    • Rouleau, Matthieu;
    • Sadaghianloo, Nirvana;
    • Rovini, Amandine;
    • Brenner, Catherine;
    • Craigen, William J.;
    • Bourgeais, Jérôme;
    • Herault, Olivier;
    • Bost, Frédéric;
    • Mazure, Nathalie M.
    Publication type:
    Article
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    Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

    Published in:
    Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
    By:
    • Reilly, Madeline Louise;
    • Ain, Noor ul;
    • Muurinen, Mari;
    • Tata, Alice;
    • Huber, Céline;
    • Simon, Marleen;
    • Ishaq, Tayyaba;
    • Shaw, Nick;
    • Rusanen, Salla;
    • Pekkinen, Minna;
    • Högler, Wolfgang;
    • Knapen, Maarten F. C. M.;
    • van den Born, Myrthe;
    • Saunier, Sophie;
    • Naz, Sadaf;
    • Cormier‐Daire, Valérie;
    • Benmerah, Alexandre;
    • Makitie, Outi
    Publication type:
    Article
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    Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

    Published in:
    Nephrology Dialysis Transplantation, 2017, v. 32, n. 1, p. 151, doi. 10.1093/ndt/gfv453
    By:
    • Bullich, Gemma;
    • Vargas, Iván;
    • Trujillano, Daniel;
    • Mendizábal, Santiago;
    • Alberto Piñero-Fernández, Juan;
    • Fraga, Gloria;
    • García-Solano, José;
    • Ballarín, José;
    • Estivill, Xavier;
    • Torra, Roser;
    • Ars, Elisabet
    Publication type:
    Article
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    An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

    Published in:
    Nature Cell Biology, 2015, v. 17, n. 8, p. 1074, doi. 10.1038/ncb3201
    By:
    • Wheway, Gabrielle;
    • Schmidts, Miriam;
    • Mans, Dorus A.;
    • Szymanska, Katarzyna;
    • Nguyen, Thanh-Minh T.;
    • Racher, Hilary;
    • Phelps, Ian G.;
    • Toedt, Grischa;
    • Kennedy, Julie;
    • Wunderlich, Kirsten A.;
    • Sorusch, Nasrin;
    • Abdelhamed, Zakia A.;
    • Natarajan, Subaashini;
    • Herridge, Warren;
    • van Reeuwijk, Jeroen;
    • Horn, Nicola;
    • Boldt, Karsten;
    • Parry, David A.;
    • Letteboer, Stef J. F.;
    • Roosing, Susanne
    Publication type:
    Article
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    A Case of Joubert Syndrome with Chronic Kidney Disease.

    Published in:
    Indian Journal of Nephrology, 2021, v. 31, n. 1, p. 61, doi. 10.4103/ijn.IJN_287_19
    By:
    • Shamsudheen, M. P.;
    • Das, Uttara;
    • Taduri, Gangadhar;
    • Guditi, Swarnalatha;
    • Karthik, Raja;
    • Thakur, Rajani
    Publication type:
    Article
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    Ocular manifestations of renal ciliopathies.

    Published in:
    Pediatric Nephrology, 2024, v. 39, n. 5, p. 1327, doi. 10.1007/s00467-023-06096-5
    By:
    • Salehi, Omar;
    • Mack, Heather;
    • Colville, Deb;
    • Lewis, Debbie;
    • Savige, Judy
    Publication type:
    Article
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    Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

    Published in:
    Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
    By:
    • Stokman, Marijn F.;
    • van der Zwaag, Bert;
    • van de Kar, Nicole C. A. J.;
    • van Haelst, Mieke M.;
    • van Eerde, Albertien M.;
    • van der Heijden, Joost W.;
    • Kroes, Hester Y.;
    • Ippel, Elly;
    • Schulp, Annelien J. A.;
    • van Gassen, Koen L.;
    • van Rooij, Iris A. L. M.;
    • Giles, Rachel H.;
    • Beales, Philip L.;
    • Roepman, Ronald;
    • Arts, Heleen H.;
    • Bongers, Ernie M. H. F.;
    • Renkema, Kirsten Y.;
    • Knoers, Nine V. A. M.;
    • van Reeuwijk, Jeroen;
    • Lilien, Marc R.
    Publication type:
    Article
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    Ulk4 Is Essential for Ciliogenesis and CSF Flow.

    Published in:
    Journal of Neuroscience, 2016, v. 36, n. 29, p. 7589, doi. 10.1523/JNEUROSCI.0621-16.2016
    By:
    • Min Liu;
    • Zhenlong Guan;
    • Qin Shen;
    • Lalor, Pierce;
    • Fitzgerald, Una;
    • O'Brien, Timothy;
    • Dockery, Peter;
    • Sanbing Shen
    Publication type:
    Article
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    Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
    By:
    • Al-Hamed, Mohamed H.;
    • Kurdi, Wesam;
    • Khan, Rubina;
    • Tulbah, Maha;
    • AlNemer, Maha;
    • AlSahan, Nada;
    • AlMugbel, Maisoon;
    • Rafiullah, Rafiullah;
    • Assoum, Mirna;
    • Monies, Dorota;
    • Shah, Zeeshan;
    • Rahbeeni, Zuhair;
    • Derar, Nada;
    • Hakami, Fahad;
    • Almutairi, Gawaher;
    • AlOtaibi, Afaf;
    • Ali, Wafaa;
    • AlShammasi, Amal;
    • AlMubarak, Wardah;
    • AlDawoud, Samia
    Publication type:
    Article
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