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TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

Lucie Thomas , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , André Coste , et al.
Assises de Génétique, Feb 2022, Rennes (FR), France
Communication dans un congrès inserm-03922541v1

Mutations in GAS8 , a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

Ludovic Jeanson , Lucie Thomas , Bruno Copin , André Coste , Isabelle Sermet-Gaudelus , et al.
Human Mutation, 2016, 37 (8), pp.776-785. ⟨10.1002/humu.23005⟩
Article dans une revue inserm-03884295v1

Lysosomal Targeting of Cystinosin Requires AP-3

Zuzanna Andrzejewska , Nathalie Névo , Lucie Thomas , Anne Bailleux , Véronique Chauvet , et al.
Traffic, 2015, 16 (7), pp.712-726. ⟨10.1111/tra.12277⟩
Article dans une revue hal-03843958v1
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FcRn-Dependent Transcytosis of Monoclonal Antibody in Human Nasal Epithelial Cells In Vitro: A Prerequisite for a New Delivery Route for Therapy?

Emilie Bequignon , Christine Dhommée , Christelle Angely , Lucie Thomas , Mathieu Bottier , et al.
International Journal of Molecular Sciences, 2019, 20 (6), pp.1379. ⟨10.3390/ijms20061379⟩
Article dans une revue hal-02122366v1

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Mahmoud R. Fassad , Amelia Shoemark , Marie Legendre , Robert A. Hirst , France Koll , et al.
American Journal of Human Genetics, 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩
Article dans une revue hal-02178023v1
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield , Lucie Thomas , Emilie Bequignon , Alain Schmitt , Laurence Stouvenel , et al.
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
Article dans une revue hal-02315263v1

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Ximena Bustamante-Marin , Wei-Ning Yin , Patrick Sears , Michael Werner , Eva Brotslaw , et al.
Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy
Poster de conférence inserm-04159224v1

TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

Lucie Thomas , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , André Coste , et al.
ESHG 2022, Jun 2022, Vienne, Austria
Poster de conférence inserm-03845363v1

FCRN-Dependent nasal administration : a new delivery route for monoclonal antibody therapy in chronic rhinosinusitis with polyps

Émilie Béquignon , Christine Dhommée , Christelle Angely , Lucie Thomas , Mathieu Bottier , et al.
European Rhinologic Society, Apr 2018, Londres (London), United Kingdom
Communication dans un congrès inserm-03934479v1
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Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia

Lucie Thomas , Laurence Cuisset , Jean-Francois Papon , Aline Tamalet , Isabelle Pin , et al.
Journal of Medical Genetics, 2024, pp.jmg-2023-109700. ⟨10.1136/jmg-2023-109700⟩
Article dans une revue inserm-04557687v1
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Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

Patrick Lorès , Charles Coutton , Elma El Khouri , Laurence Stouvenel , Maelle Givelet , et al.
Human Molecular Genetics, 2018, 27 (7), pp.1196-1211. ⟨10.1093/hmg/ddy034⟩
Article dans une revue hal-02346745v1
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Bases moléculaires et cellulaires de l'assemblage de l'axonème des cils mobiles

Lucie Thomas
Génétique humaine. Sorbonne Université, 2023. Français. ⟨NNT : 2023SORUS097⟩
Thèse tel-04578971v1
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Impact of cystinosin glycosylation on protein stability by differential dynamic SILAC

Nathalie Névo , Lucie Thomas , Cerina Chhuon , Zuzanna Andrzejewska , Joanna Lipecka , et al.
Molecular and Cellular Proteomics, 2017, 16 (3), pp.457-468. ⟨10.1074/mcp.M116.063867⟩
Article dans une revue inserm-01438319v1
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Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

Fawaz Awad , Eman Assrawi , Claire Jumeau , Sophie Georgin-Lavialle , Laetitia Cobret , et al.
PLoS ONE, 2017, 12 (4), pp.e0175336. ⟨10.1371/journal.pone.0175336⟩
Article dans une revue hal-01509838v1
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Ximena Bustamante-Marin , Wei-Ning Yin , Patrick Sears , Michael Werner , Eva Brotslaw , et al.
American Journal of Human Genetics, 2019, 104 (2), pp.229-245. ⟨10.1016/j.ajhg.2018.12.009⟩
Article dans une revue inserm-03780550v1

Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes

Lucie Thomas , Marjorie Whitfield , Émilie Béquignon , Alain Schmitt , Laurence Stouvenel , et al.
Assises de génétique humaine et médicale, Jan 2020, Tours, France
Communication dans un congrès inserm-03951614v1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre , et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Article dans une revue hal-01560951v1

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri , Lucie Thomas , Ludovic Jeanson , Emilie Bequignon , Benoit Vallette , et al.
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
Article dans une revue inserm-03875562v1
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TTC12 loss-of-function mutations cause primary Ciliary Dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

Lucie Thomas , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , Andre Coste , et al.
American Journal of Human Genetics, 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
Article dans une revue hal-02456263v1