| 1 | ICS6, DNAH11
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| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
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| 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.
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| Hum Mutat 29(2):289-98. 2008
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| 2 | DNAH11, DNAH5, DNAI1, ICS10, ICS2, ICS3, ICS6, ICS7, NME8
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| Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.
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| Geremek M, Schoenmaker F, Zietkiewicz E, Pogorzelski A, Diehl S, Wijmenga C, Witt M.
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| Eur J Hum Genet 16(6):688-95. Epub 2008 Feb 13. 2008
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| 3 | ICS6, NME8
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| A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.
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| Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S.
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| Proc Natl Acad Sci U S A 104(9):3336-41. Epub 2007 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490. 2007
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| 4 | AK1, AK5, C14orf68, DNAH1, DNAH10, DNAH11, DNAH12, DNAH14, DNAH17, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAI1, DNAI2, DNAI4, DNAL4, DYNC1H1, DYNC1I1, DYNC1I2, DYNC2H1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3, DYNLT5, ICS5, ICS6, NME8, TCTE3, TXNDC2, TXNDC6, WDR63
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| Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
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| Pazour GJ, Agrin N, Walker BL, Witman GB.
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| J Med Genet 43(1):62-73. Epub 2005 Jun 3. 2006
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| 5 | DNAH5, ICS6
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| Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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| Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H.
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| Nat Genet 30(2):143-4. 2002
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| 6 | ICS1, ICS3, ICS4, ICS5, ICS6, ICS7, ICS8, ICS9, ICS10
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| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
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| Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Sail GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE.
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| Eur J Hum Genet 8(2):109-18. 2000
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