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Pulmonary
Diseases

Primary ciliary dyskinesia
Interstitial lung diseases

Primary Ciliary Dyskinesia

Research project
The team
Publications

Selected publications

  1. Shoemark, A, Rubbo, B, Legendre, M, Fassad, MR, Haarman, EG, Best, S et al.. Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. Eur Respir J. 2021;58 (2):. doi: 10.1183/13993003.02359-2020. PubMed PMID:33479112 .
  2. Legendre, M, Zaragosi, LE, Mitchison, HM. Motile cilia and airway disease. Semin Cell Dev Biol. 2021;110 :19-33. doi: 10.1016/j.semcdb.2020.11.007. PubMed PMID:33279404 .
  3. Thomas, L, Bouhouche, K, Whitfield, M, Thouvenin, G, Coste, A, Louis, B et al.. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. Am J Hum Genet. 2020;106 (2):153-169. doi: 10.1016/j.ajhg.2019.12.010. PubMed PMID:31978331 PubMed Central PMC7011118.
  4. Blanchon, S, Legendre, M, Bottier, M, Tamalet, A, Montantin, G, Collot, N et al.. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. J Med Genet. 2020;57 (4):237-244. doi: 10.1136/jmedgenet-2019-106424. PubMed PMID:31772028 .
  5. Whitfield, M, Thomas, L, Bequignon, E, Schmitt, A, Stouvenel, L, Montantin, G et al.. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. Am J Hum Genet. 2019;105 (1):198-212. doi: 10.1016/j.ajhg.2019.04.015. PubMed PMID:31178125 PubMed Central PMC6612517.
  6. Fassad, MR, Shoemark, A, Legendre, M, Hirst, RA, Koll, F, le Borgne, P et al.. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet. 2018;103 (6):984-994. doi: 10.1016/j.ajhg.2018.10.016. PubMed PMID:30471717 PubMed Central PMC6288320.
  7. El Khouri, E, Thomas, L, Jeanson, L, Bequignon, E, Vallette, B, Duquesnoy, P et al.. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. Am J Hum Genet. 2016;99 (2):489-500. doi: 10.1016/j.ajhg.2016.06.022. PubMed PMID:27486783 PubMed Central PMC4974111.
  8. Jeanson, L, Copin, B, Papon, JF, Dastot-Le Moal, F, Duquesnoy, P, Montantin, G et al.. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet. 2015;97 (1):153-62. doi: 10.1016/j.ajhg.2015.05.004. PubMed PMID:26073779 PubMed Central PMC4571005.
  9. Kott, E, Legendre, M, Copin, B, Papon, JF, Dastot-Le Moal, F, Montantin, G et al.. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet. 2013;93 (3):561-70. doi: 10.1016/j.ajhg.2013.07.013. PubMed PMID:23993197 PubMed Central PMC3769924.

 

You can find more about our scientific publications on https://www.hal.inserm.fr/U933.

 

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