Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Fabienne Jabot–Hanin"'
Autor:
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Externí odkaz:
https://doaj.org/article/01f10fc3644d4890add9690ba176560b
Autor:
Jocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, Le Thi Ton, Nguyễn Trong Luong, Nguyễn Thanh Danh, Quentin B Vincent, Fabienne Jabot-Hanin, Yoann Seeleuthner, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Nguyen Thu Huong, Nguyen Ngoc Ba, Jean-Laurent Casanova, Christophe Delacourt, Eileen G Hoal, Alexandre Alcaïs, Vu Hong Thai, Lai The Thành, Laurent Abel, Erwin Schurr, Aurélie Cobat
Publikováno v:
PLoS Genetics, Vol 17, Iss 3, p e1009392 (2021)
The natural history of tuberculosis (TB) is characterized by a large inter-individual outcome variability after exposure to Mycobacterium tuberculosis. Specifically, some highly exposed individuals remain resistant to M. tuberculosis infection, as in
Externí odkaz:
https://doaj.org/article/4f7beee9588e480d8337e49640f11266
Autor:
Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 12, Pp 1-18 (2018)
Abstract The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations
Externí odkaz:
https://doaj.org/article/9f89d1aa4ab044b1b23872b473386b2b
Autor:
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke, Fabienne Jabot-Hanin, Agnès Rötig, Sophie Monnot, Arnold Munnich, Nelly Frydman, Julie Steffann
Publikováno v:
Human Reproduction. 38:992-1002
STUDY QUESTION Does mitochondrial deficiency affect human embryonic preimplantation development? SUMMARY ANSWER The presence of a pathogenic mitochondrial variant triggers changes in the gene expression of preimplantation human embryos, compromising
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d5323f7973de574b5cbdc3756f0144a
https://doi.org/10.1093/humrep/dead052
https://doi.org/10.1093/humrep/dead052
Autor:
Nihel Khoudour, Florence Delestre, Fabienne Jabot–Hanin, Anne Jouinot, Juliette Nectoux, Franck Letouneur, Brigitte Izac, Michel Vidal, Loïc Guillevin, Xavier Puéchal, Pierre Charles, Benjamin Terrier, Benoit Blanchet
Publikováno v:
Arthritis & Rheumatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0fcd43af871f9c2fb4f5d1cd05bec460
https://doi.org/10.1002/art.42556
https://doi.org/10.1002/art.42556
Autor:
Hugo, Garcia, Alice S, Serafin, Flora, Silbermann, Esther, Porée, Amandine, Viau, Clémentine, Mahaut, Katy, Billot, Éléonore, Birgy, Meriem, Garfa-Traore, Stéphanie, Roy, Salomé, Ceccarelli, Manon, Mehraz, Pamela C, Rodriguez, Bérangère, Deleglise, Laetitia, Furio, Fabienne, Jabot-Hanin, Nicolas, Cagnard, Elaine, Del Nery, Marc, Fila, Soraya, Sin-Monnot, Corinne, Antignac, Stanislas, Lyonnet, Pauline, Krug, Rémi, Salomon, Jean-Philippe, Annereau, Alexandre, Benmerah, Marion, Delous, Luis, Briseño-Roa, Sophie, Saunier
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(18)
Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available. The m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ced2553a94a29b1c195825aaa0a29310
https://pubmed.ncbi.nlm.nih.gov/35482924
https://pubmed.ncbi.nlm.nih.gov/35482924
Autor:
Hugo Garcia, Alice Serafin, Flora Silbermann, Esther Poree, Clémentine Mahaut, Amandine Viau, Katy Billot, Éléonore Birgy, Meriem Garfa-Traore, Stéphanie Roy, Salomé Cecarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot-Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean-Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier
SummaryNephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1220b1f23a9be5c30f8c38126be9b93f
https://doi.org/10.1101/2022.01.21.477191
https://doi.org/10.1101/2022.01.21.477191
Autor:
Nadine Gigarel, Fabien Reyal, Pascale de Lonlay, Ghislaine Royer, Chris Ottolenghi, Clément Pontoizeau, Jean-Paul Bonnefont, Arnold Munnich, Manel Guirat, Julie Steffann, Fabienne Jabot-Hanin, Stephanie Gobin-Limballe, Anaïs Brassier, Marlène Rio, Marie Simon, Jean-Baptiste Arnoux, Maryse Magen, Roselyne Gesny
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(5)
OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 femal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb6fa215776de4601d8c062e6e0868f
https://pubmed.ncbi.nlm.nih.gov/34014569
https://pubmed.ncbi.nlm.nih.gov/34014569
Autor:
Nguyen Thu Huong, Jean-Laurent Casanova, Fabienne Jabot-Hanin, Laurent Abel, Le Thi Ton, Vu Hong Thai, Eileen G. Hoal, Aurélie Cobat, Marianna Orlova, Alexandre Alcaïs, Jacinta Bustamante, Nguyen Thanh Danh, Christophe Delacourt, Yoann Seeleuthner, Nguyen Ngoc Ba, Jocelyn Quistrebert, Nguyen Trong Luong, Gaspard Kerner, Stéphanie Boisson-Dupuis, Quentin B. Vincent, Erwin Schurr
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 3, p e1009392 (2021)
PLoS Genetics, Vol 17, Iss 3, p e1009392 (2021)
The natural history of tuberculosis (TB) is characterized by a large inter-individual outcome variability after exposure to Mycobacterium tuberculosis. Specifically, some highly exposed individuals remain resistant to M. tuberculosis infection, as in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea98bdd2f890c27635d6be642a2c0fbe
https://pubmed.ncbi.nlm.nih.gov/33661925
https://pubmed.ncbi.nlm.nih.gov/33661925
Autor:
Jean-Paul Bonnefont, Laetitia Hesters, Julie Steffann, Nelly Frydman, Nadine Gigarel, Arnold Munnich, Fabienne Jabot-Hanin, Anne Mayeur, Kalliopi Chatzovoulou
Publikováno v:
Mitochondrion. 58
Mitochondrial DNA (mtDNA) mutations cause severe maternally inherited disorders, although mechanisms regulating mother-to-offspring transmission have not yet been elucidated. To investigate if mtDNA mutations affect embryonic development, we compared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2dc667bf6ba9895644010f7f5d2fae
https://pubmed.ncbi.nlm.nih.gov/33639270
https://pubmed.ncbi.nlm.nih.gov/33639270