Lucie Thomas

发表

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

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.

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

A. Nicholson, A. Tassin, S. Amselem, 2018, American journal of human genetics.

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

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

FcRn-Dependent Transcytosis of Monoclonal Antibody in Human Nasal Epithelial Cells In Vitro: A Prerequisite for a New Delivery Route for Therapy?

V. Gouilleux-Gruart, J. Papon, M. Bottier, 2019, International journal of molecular sciences.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

S. Amselem, A. Loyens, A. Schmitt, 2019, American journal of human genetics.

University of Dundee Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus Fassad,

A. Tassin, S. Amselem, T. Cullup, 2018 .

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Jinzhong Zhang, C. Antignac, M. Gubler, 2019, Kidney international.

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

P. Courtoy, C. Antignac, I. Guerrera, 2016, Journal of the American Society of Nephrology : JASN.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

V. Drouin‐Garraud, A. Tassin, S. Amselem, 2020, American journal of human genetics.

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

S. Amselem, P. Ray, S. Savinov, 2018, Human molecular genetics.

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

Laura E. Herring, P. Sears, L. Ostrowski, 2019, American journal of human genetics.

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

S. Amselem, A. Clément, I. Sermet-Gaudelus, 2016, Human mutation.

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

S. Amselem, Lucie Thomas, P. Duquesnoy, 2017, PloS one.

Impact of cystinosin glycosylation on protein stability by differential dynamic SILAC

Corinne Antignac, C. Antignac, F. Guillonneau, 2018 .

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)*

Corinne Antignac, C. Antignac, I. Guerrera, 2017, Molecular & Cellular Proteomics.

enzyme RIA : relative isotope abundance RSLC : rapid separation liquid chromatography SILAC : stable isotope labelling by amino acids in cell culture TM : transmembrane WT : wild-type

C. Antignac, I. Guerrera, F. Guillonneau, 2017 .

Lysosomal Targeting of Cystinosin Requires AP‐3

C. Antignac, Alexandre Benmerah, Lucie Thomas, 2015, Traffic.

Corrigendum: 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.

S. Amselem, P. Ray, S. Savinov, 2018, Human molecular genetics.

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

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.