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458 related items for PubMed ID: 31118369

  • 1. A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
    Orimo M, Kondo M, Takeyama K, Abe K, Miyoshi A, Honda N, Ichikawa A, Takeuchi K, Tagaya E.
    Intern Med; 2019 Aug 15; 58(16):2383-2386. PubMed ID: 31118369
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
    Kano G, Tsujii H, Takeuchi K, Nakatani K, Ikejiri M, Ogawa S, Kubo H, Nagao M, Fujisawa T.
    Mol Med Rep; 2016 Dec 15; 14(6):5077-5083. PubMed ID: 27779714
    [Abstract] [Full Text] [Related]

  • 5. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
    Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M.
    Am J Hum Genet; 2018 Dec 06; 103(6):995-1008. PubMed ID: 30471718
    [Abstract] [Full Text] [Related]

  • 6. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
    Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM.
    Am J Hum Genet; 2018 Dec 06; 103(6):984-994. PubMed ID: 30471717
    [Abstract] [Full Text] [Related]

  • 7. [The clinical characteristics of 17 cases of primary ciliary dyskinesia].
    Tian XL, Wang SB, Zheng SY, Li X, Xu KF.
    Zhonghua Jie He He Hu Xi Za Zhi; 2017 Apr 12; 40(4):278-283. PubMed ID: 28395407
    [Abstract] [Full Text] [Related]

  • 8. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
    Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.
    Am J Respir Crit Care Med; 2006 Jul 15; 174(2):120-6. PubMed ID: 16627867
    [Abstract] [Full Text] [Related]

  • 9. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
    Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, Lalau G, Bouvagnet P.
    Am J Hum Genet; 2001 Apr 15; 68(4):1030-5. PubMed ID: 11231901
    [Abstract] [Full Text] [Related]

  • 10. Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
    Wang L, Zhao X, Liang H, Zhang L, Li C, Li D, Meng X, Meng F, Gao M.
    BMC Pulm Med; 2021 Aug 14; 21(1):263. PubMed ID: 34391405
    [Abstract] [Full Text] [Related]

  • 11. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
    Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM, UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM.
    Am J Hum Genet; 2014 Sep 04; 95(3):257-74. PubMed ID: 25192045
    [Abstract] [Full Text] [Related]

  • 12. [Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].
    Wang K, Chen X, Guo CY, Liu FQ, Wang JR, Sun LF.
    Zhonghua Er Ke Za Zhi; 2018 Feb 02; 56(2):134-137. PubMed ID: 29429202
    [Abstract] [Full Text] [Related]

  • 13. [Primary ciliary dyskinesia in situs inversus without bronchiectasis].
    Gierich J, Otto J, Walt H, Dombi VH, Spycher MA.
    Pneumologie; 1997 Dec 02; 51(12):1127-32. PubMed ID: 9487775
    [Abstract] [Full Text] [Related]

  • 14. Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report.
    Shi Y, Lei Q, Han Q.
    Medicine (Baltimore); 2023 Dec 29; 102(52):e36271. PubMed ID: 38206729
    [Abstract] [Full Text] [Related]

  • 15. Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report.
    Zhang L, Feng X, Zhang J, Hao Y, Wang Y.
    BMC Neurol; 2020 Aug 26; 20(1):314. PubMed ID: 32847546
    [Abstract] [Full Text] [Related]

  • 16. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
    Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA, Genetic Disorders of Mucociliary Clearance Consortium.
    Thorax; 2012 May 26; 67(5):433-41. PubMed ID: 22184204
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
    Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H.
    Pediatr Res; 2006 Mar 23; 59(3):418-22. PubMed ID: 16492982
    [Abstract] [Full Text] [Related]

  • 19. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
    Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA.
    Am J Hum Genet; 2013 Oct 03; 93(4):711-20. PubMed ID: 24055112
    [Abstract] [Full Text] [Related]

  • 20. FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
    Ito M, Morimoto K, Ohfuji T, Miyabayashi A, Wakabayashi K, Yamada H, Hijikata M, Keicho N.
    Intern Med; 2024 May 15; 63(10):1433-1437. PubMed ID: 37813609
    [Abstract] [Full Text] [Related]

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