Citations for
1DNAH11, DNAH17, DNAH5, DNAH8, DNAH9, SPGF39
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M.
Am J Hum Genet 105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6. 2019
2CFAP300, DNAAF2, DNAH11, ICS39
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H.
Am J Hum Genet 102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025. 2018
3DNAH11, DNAH5, DNAH9, ICS3, ICS42, ICS7
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 103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21. 2018
4CCDC114, DNAH11, DNAH5, DNAH9, ICS42
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 103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21. 2018
5DNAH11
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 33(3):495-503. doi: 10.1002/humu.22001. Epub 2011 Dec 29. 2012
6DNAH11, ICS7
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 67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18. 2012
7DNAH11
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL.
Eur Respir J 35(6):1413-6. doi: 10.1183/09031936.00186209. No abstract available. 2010
8ICS6, DNAH11
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 29(2):289-98. 2008
9DNAH11, DNAH5, DNAI1, ICS10, ICS2, ICS3, ICS6, ICS7, NME8
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.
Geremek M, Schoenmaker F, Zietkiewicz E, Pogorzelski A, Diehl S, Wijmenga C, Witt M.
Eur J Hum Genet 16(6):688-95. Epub 2008 Feb 13. 2008
10AK1, AK5, C14orf68, DNAH1, DNAH10, DNAH11, DNAH12, DNAH14, DNAH17, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAI1, DNAI2, DNAL4, DYNC1H1, DYNC1I1, DYNC1I2, DYNC2H1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3, ICS5, ICS6, NME8, TCTE3, TCTEX1D1, TXNDC2, TXNDC6, WDR63, WDR78
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
Pazour GJ, Agrin N, Walker BL, Witman GB.
J Med Genet 43(1):62-73. Epub 2005 Jun 3. 2006
11DNAH11
Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.
Varadi A, Johnson-Cadwell LI, Cirulli V, Yoon Y, Allan VJ, Rutter GA.
J Cell Sci 117(Pt 19):4389-400. Epub 2004 Aug 10. 2004
12DNAH11
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.
Proc Natl Acad Sci U S A 99(16):10282-6. Epub 2002 Jul 25. 2002
13DNAH11, DYNC2H1
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.
Kastury K, Taylor WE, Gutierrez M, Ramirez L, Coucke PJ, Van Hauwe P, Van Camp G, Bhasin S.
Genomics 44(3):362-4. 1997
14DNAH10, DNAH11, DNAH2, DNAH3
Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.
Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S.
FEBS Lett 412(2):325-30. 1997