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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Kott E, et al. Among authors: just j. Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993197 Free PMC article.
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. Merveille AC, et al. Among authors: just j. Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131972 Free PMC article.
Evidence for linkage of a new region (11p14) to eczema and allergic diseases.
Guilloud-Bataille M, Bouzigon E, Annesi-Maesano I, Bousquet J, Charpin D, Gormand F, Hochez J, Just J, Lemainque A, Le Moual N, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Vervloet D, Kauffmann F, Lathrop M, Demenais F, Dizier MH. Guilloud-Bataille M, et al. Among authors: just j. Hum Genet. 2008 Jan;122(6):605-14. doi: 10.1007/s00439-007-0439-7. Epub 2007 Oct 18. Hum Genet. 2008. PMID: 17943316 Free PMC article.
Benefits and risks of bronchoalveolar lavage in severe asthma in children.
Ben Tkhayat R, Taytard J, Corvol H, Berdah L, Prévost B, Just J, Nathan N. Ben Tkhayat R, et al. Among authors: just j. ERJ Open Res. 2021 Dec 6;7(4):00332-2021. doi: 10.1183/23120541.00332-2021. eCollection 2021 Oct. ERJ Open Res. 2021. PMID: 34881325 Free PMC article.
Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families.
Bouzigon E, Dizier MH, Krähenbühl C, Lemainque A, Annesi-Maesano I, Betard C, Bousquet J, Charpin D, Gormand F, Guilloud-Bataille M, Just J, Le Moual N, Maccario J, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Rosenberg-Bourgin M, Vervloet D, Kauffmann F, Lathrop M, Demenais F. Bouzigon E, et al. Among authors: just j. Hum Mol Genet. 2004 Dec 15;13(24):3103-13. doi: 10.1093/hmg/ddh340. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509591
Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.
Dizier MH, Nadif R, Margaritte-Jeannin P, Barton SJ, Sarnowski C, Gagné-Ouellet V, Brossard M, Lavielle N, Just J, Lathrop M, Holloway JW, Laprise C, Bouzigon E, Demenais F. Dizier MH, et al. Among authors: just j. Eur Respir J. 2016 Apr;47(4):1072-81. doi: 10.1183/13993003.00849-2015. Epub 2016 Jan 21. Eur Respir J. 2016. PMID: 26797031 Free article.
The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.
Dizier MH, Margaritte-Jeannin P, Madore AM, Esparza-Gordillo J, Moffatt M, Corda E, Monier F, Guilloud-Bataille M, Franke A, Weidinger S, Annesi-Maesano I, Just J, Pin I, Kauffmann F, Cookson W, Lee YA, Laprise C, Lathrop M, Bouzigon E, Demenais F. Dizier MH, et al. Among authors: just j. J Allergy Clin Immunol. 2012 Jun;129(6):1547-53.e3. doi: 10.1016/j.jaci.2012.04.010. J Allergy Clin Immunol. 2012. PMID: 22657408
436 results