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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
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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.
Article dans une revue
inserm-03884295v1
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Lysosomal Targeting of Cystinosin Requires AP-3
Zuzanna Andrzejewska
,
Nathalie Névo
,
Lucie Thomas
,
Anne Bailleux
,
Véronique Chauvet
,
et al.
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.
Article dans une revue
hal-02122366v1
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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.
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.
Article dans une revue
hal-02315263v1
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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.
Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy
Poster de conférence
inserm-04159224v1
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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.
ESHG 2022, Jun 2022, Vienne, Austria
Poster de conférence
inserm-03845363v1
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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.
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.
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
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.
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.
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.
Article dans une revue
inserm-03780550v1
|
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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
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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.
Article dans une revue
hal-01560951v1
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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.
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.
Article dans une revue
hal-02456263v1
|
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