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Journal Abstract Search

401 related items for PubMed ID: 26729821

  • 1. Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
    Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M.
    J Med Genet; 2016 Apr; 53(4):242-9. PubMed ID: 26729821
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  • 2. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
    Schultz R, Elenius V, Lukkarinen H, Saarela T.
    BMC Med Genet; 2020 Nov 26; 21(1):237. PubMed ID: 33243178
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  • 6. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
    Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.
    Hum Mutat; 2008 Feb 26; 29(2):289-98. PubMed ID: 18022865
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  • 7. Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy.
    Chhin B, Negre D, Merrot O, Pham J, Tourneur Y, Ressnikoff D, Jaspers M, Jorissen M, Cosset FL, Bouvagnet P.
    PLoS Genet; 2009 Mar 26; 5(3):e1000422. PubMed ID: 19300481
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  • 9. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.
    Zlotina A, Barashkova S, Zhuk S, Skitchenko R, Usoltsev D, Sokolnikova P, Artomov M, Alekseenko S, Simanova T, Goloborodko M, Berleva O, Kostareva A.
    Orphanet J Rare Dis; 2024 Aug 23; 19(1):310. PubMed ID: 39180133
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  • 10. Cilia motility and structure in primary and secondary ciliary dyskinesia.
    Armengot M, Milara J, Mata M, Carda C, Cortijo J.
    Am J Rhinol Allergy; 2010 Aug 23; 24(3):175-80. PubMed ID: 20537282
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  • 11. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
    Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B.
    J Med Genet; 2020 Apr 23; 57(4):237-244. PubMed ID: 31772028
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  • 13. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
    Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR, Omran H.
    Am J Respir Crit Care Med; 2005 Jun 15; 171(12):1343-9. PubMed ID: 15750039
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  • 16. Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations.
    Kurokawa A, Kondo M, Orimo M, Honda N, Miyoshi A, Akaba T, Tsuji M, Nakatani K, Ikejiri M, Yagi O, Takeyama K, Takeuchi K, Tagaya E.
    Respir Investig; 2021 Jul 15; 59(4):550-554. PubMed ID: 33589394
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  • 17. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.
    Lucas JS, Adam EC, Goggin PM, Jackson CL, Powles-Glover N, Patel SH, Humphreys J, Fray MD, Falconnet E, Blouin JL, Cheeseman MT, Bartoloni L, Norris DP, Lackie PM.
    Hum Mutat; 2012 Mar 15; 33(3):495-503. PubMed ID: 22102620
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  • 19. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
    Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M.
    J Med Genet; 2024 May 21; 61(6):595-604. PubMed ID: 38408845
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  • 20. DNAI1 mutations explain only 2% of primary ciliary dykinesia.
    Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL.
    Respiration; 2008 May 21; 76(2):198-204. PubMed ID: 18434704
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