Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Autor: Anne Sophie Rebillat, Marie Goulet, Darawan Rinchai, Tanwir Habib, Vincent Bondet, Martine Conte, Anne Puel, Clotilde Mircher, Xiao-Fei Kong, Luyan Liu, Puthen V. Jithesh, Arnold Munnich, Laurent Abel, Damien Chaussabel, Stanislas Lyonnet, Jean-Laurent Casanova, Mohammed Elanbari, Emilie Nonnotte, Jacinta Bustamante, Mélanie Migaud, Nicolas Gürtler, Lisa Worley, Stuart G. Tangye, Aimé Ravel, Cindy S. Ma, Darragh Duffy, Stéphanie Boisson-Dupuis

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩
J Clin Immunol
Journal of Clinical Immunology, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩

International audience; Down syndrome (DS) is characterized by the occurrence of three copies of human chromosome 21 (HSA21). HSA21 contains a cluster of four interferon receptor (IFN-R) genes: IFNAR1, IFNAR2, IFNGR2, and IL10RB. DS patients often de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a228b766736d4fb59300e54e7673915
https://doi.org/10.1007/s10875-020-00803-9

Differential Responses of Blood Essential Amino Acid Levels Following Ingestion of High Quality Plant-Based Protein Blends Compared to Whey Protein - A Double-Blind Randomized, Cross-Over, Clinical Trial

Autor: Emilie Nonnotte, Douglas R. Bolster, Eva H. Yin, Jessica L. Brennan, Yui M. Keerati-u-rai, Julie Daoust, Thierry St-Denis, Laurent Quinquis

This study assessed bio-equivalence of high-quality, plant-based protein blends versus Whey Protein Isolate (WPI) in healthy, resistance-trained men. The primary endpoint was incremental area under the curve (iAUC) of blood essential Amino Acids (eAA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2088df5bc4c4ef6787010dc32ad3ba29
https://doi.org/10.20944/preprints201911.0189.v1

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study

Autor: Albert A, Hagège, Eric, Caudron, Thibaud, Damy, Raymond, Roudaut, Alain, Millaire, Caroline, Etchecopar-Chevreuil, Thi-Chien, Tran, Firas, Jabbour, Catherine, Boucly, Patrice, Prognon, Philippe, Charron, Dominique P, Germain, Emilie, Nonnotte

Publikováno v: Heart (British Cardiac Society). 97(2)

Background Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy (HCM) of sarcomeric origin and might benefit, if detected early, from specific enzyme replacement therapy. The prevalence of FD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f568cc169fedab6214e118497e855f12
https://pubmed.ncbi.nlm.nih.gov/21062768