Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Muriel Girard"'
Autor:
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi
Publikováno v:
JHEP Reports, Vol 6, Iss 6, Pp 101058- (2024)
Externí odkaz:
https://doaj.org/article/7bf129223b0e40f5adba9a87ae1b09f4
Autor:
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi
Publikováno v:
JHEP Reports, Vol 6, Iss 1, Pp 100949- (2024)
Background & Aims: Progressive familial intrahepatic cholestasis (PFIC) relates to a group of rare, debilitating, liver disorders which typically present in early childhood, but have also been reported in adults. Without early detection and effective
Externí odkaz:
https://doaj.org/article/d70557a763514a83ab3af93e8e462578
Autor:
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain. Here the authors develop an AAV8-directed gene therapy providing sustainable diseas
Externí odkaz:
https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179
Autor:
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months
Externí odkaz:
https://doaj.org/article/06ee16d9c5f84e49b379a7616bb8c55f
Autor:
Caroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, Alix Besancon, Dulanjalee Kariyawasam, Cécile Godot, Cécile Lambe, Cécile Talbotec, Muriel Girard, Christophe Chardot, Laureline Berteloot, Taymme Hachem, Alexandre Lapillonne, Amélie Poidvin, Caroline Storey, Mathieu Neve, Cosmina Stan, Emmanuelle Dugelay, Anne-Laure Fauret-Amsellem, Yline Capri, Hélène Cavé, Marina Ybarra, Vikash Chandra, Raphaël Scharfmann, Elise Bismuth, Michel Polak, Jean Claude Carel, Bénédicte Pigneur, Jacques Beltrand
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Aims/HypothesisCaused by biallelic mutations of the gene encoding the transcription factor RFX6, the rare Mitchell–Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and se
Externí odkaz:
https://doaj.org/article/0415565a92324913891728b1437cc6c5
Autor:
Imeke Goldschmidt, Evgeny Chichelnitskiy, Nicole Rübsamen, Veronika K. Jaeger, André Karch, Lorenzo D’Antiga, Angelo Di Giorgio, Emanuele Nicastro, Deirdre A. Kelly, Valerie McLin, Simona Korff, Dominique Debray, Muriel Girard, Loreto Hierro, Maja Klaudel-Dreszler, Malgorzata Markiewicz-Kijewska, Christine Falk, Ulrich Baumann
Publikováno v:
Children, Vol 10, Iss 1, p 128 (2023)
Background: The current gold standard to diagnose T-cell-mediated acute rejection (TCMR) requires liver histology. Using data from the ChilSFree study on immune response after paediatric liver transplantation (pLT), we aimed to assess whether soluble
Externí odkaz:
https://doaj.org/article/93f5115d7d9e43f89b4e22ac9e5f6df3
Autor:
Anton Iershov, Ivan Nemazanyy, Chantal Alkhoury, Muriel Girard, Esther Barth, Nicolas Cagnard, Alexandra Montagner, Dominique Chretien, Elena I. Rugarli, Herve Guillou, Mario Pende, Ganna Panasyuk
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Peroxisome Proliferator Activated Receptor alpha (PPARα) drives fatty acid catabolism. Here, the authors show that in liver of autophagy deficient class 3 phosphoinositide 3-kinase mutant mice PPARα transcriptional repressors fail to degrade in lys
Externí odkaz:
https://doaj.org/article/942549d8fc9a4e9396af183cc1bf5645
Autor:
Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1169 (2022)
Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an
Externí odkaz:
https://doaj.org/article/71ba909fe65b4bb7be1a22d10e514f3b
Autor:
Norman Junge, Angelo Di Giorgio, Muriel Girard, Zeynep Demir, Diana Kaminska, Maria Janowska, Vaidotas Urbonas, Dominykas Varnas, Giuseppe Maggiore, Tommaso Alterio, Christoph Leiskau, Florian W. R. Vondran, Nicolas Richter, Lorenzo D’Antiga, Rafael Mikolajczyk, Eva-Doreen Pfister, Ulrich Baumann
Publikováno v:
Children, Vol 9, Iss 2, p 275 (2022)
The reported prevalence of autoantibodies (AAB) (ANA, SMA, LKM, SLA) after pediatric liver transplantation (pLTX) varies considerably from 26–75%, but their clinical impact on outcome is uncertain. We aimed to study the prevalence of AAB after pLTX
Externí odkaz:
https://doaj.org/article/456b1b513a7f44a4b027a57e72ce261a
Autor:
Mathieu P. Rodero, Alessandra Tesser, Eva Bartok, Gillian I. Rice, Erika Della Mina, Marine Depp, Benoit Beitz, Vincent Bondet, Nicolas Cagnard, Darragh Duffy, Michael Dussiot, Marie-Louise Frémond, Marco Gattorno, Flavia Guillem, Naoki Kitabayashi, Fabrice Porcheray, Frederic Rieux-Laucat, Luis Seabra, Carolina Uggenti, Stefano Volpi, Leo A H. Zeef, Marie-Alexandra Alyanakian, Jacques Beltrand, Anna Monica Bianco, Nathalie Boddaert, Chantal Brouzes, Sophie Candon, Roberta Caorsi, Marina Charbit, Monique Fabre, Flavio Faletra, Muriel Girard, Annie Harroche, Evelyn Hartmann, Dominique Lasne, Annalisa Marcuzzi, Bénédicte Neven, Patrick Nitschke, Tiffany Pascreau, Serena Pastore, Capucine Picard, Paolo Picco, Elisa Piscianz, Michel Polak, Pierre Quartier, Marion Rabant, Gabriele Stocco, Andrea Taddio, Florence Uettwiller, Erica Valencic, Diego Vozzi, Gunther Hartmann, Winfried Barchet, Olivier Hermine, Brigitte Bader-Meunier, Alberto Tommasini, Yanick J. Crow
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Nucleic acid sensing is important to ensure that an innate immune response is only mounted against microbial nucleic acid. Here, the authors identify loss-of-function mutations in the DNASE2 gene that cause type I interferon-mediated autoinflammation
Externí odkaz:
https://doaj.org/article/053d78d21e4b496886091d098bf2bf52