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Pulmonary
Diseases

Primary ciliary dyskinesia
Interstitial lung diseases

Primary Ciliary Dyskinesia

Research project
The team
Publications

Selected publications

  1. Dodd, DO, Mechaussier, S, Yeyati, PL, McPhie, F, Anderson, JR, Khoo, CJ et al.. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024;384 (6694):eadf5489. doi: 10.1126/science.adf5489. PubMed PMID:38662826 PubMed Central PMC7616230.
  2. Thomas, L, Cuisset, L, Papon, JF, Tamalet, A, Pin, I, Abou Taam, R et al.. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. J Med Genet. 2024;61 (6):595-604. doi: 10.1136/jmg-2023-109700. PubMed PMID:38408845 .
  3. Boursier, A, Boudry, A, Mitchell, V, Loyens, A, Rives, N, Moerman, A et al.. Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy. Reprod Biomed Online. 2023;47 (5):103328. doi: 10.1016/j.rbmo.2023.103328. PubMed PMID:37742467 .
  4. Alexandru, M, de Boissieu, P, Benoudiba, F, Moustarhfir, M, Kim, S, Bequignon, É et al.. Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study. J Clin Med. 2022;11 (17):. doi: 10.3390/jcm11175163. PubMed PMID:36079093 PubMed Central PMC9456589.
  5. Legendre, M, Thouvenin, G, Taytard, J, Baron, M, Le Bourgeois, M, Tamalet, A et al.. High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2022;19 (10):1704-1712. doi: 10.1513/AnnalsATS.202110-1175OC. PubMed PMID:35622418 .
  6. Mabrouk, I, Al-Harthi, N, Mani, R, Montantin, G, Tissier, S, Lagha, R et al.. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. J Hum Genet. 2022;67 (7):381-386. doi: 10.1038/s10038-021-01006-9. PubMed PMID:35046476 .
  7. 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 .
  8. 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 .
  9. 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.
  10. 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 .
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.