Zobrazeno 1 - 10
of 318
pro vyhledávání: '"Alain Lachaux"'
Autor:
Giusy Russo, Patrizia Alvisi, Claudio Romano, Giulia Angelino, Julie Lemale, Alain Lachaux, Paolo Lionetti, Genevieve Veereman, Cosimo Ruggiero, Michela Padovani, Raffaella Tacchi, Fabio Cenci, Salvatore Cucchiara, Salvatore Oliva
Publikováno v:
Endoscopy International Open, Vol 12, Iss 04, Pp E629-E638 (2024)
Externí odkaz:
https://doaj.org/article/eb785921f5b9428d88eb0d641c9a8719
Autor:
Olivier Guillaud, Alain Lachaux, Justin Mbala, Abdelouahed Belmalih, Eduardo Couchonnal Bedoya
Publikováno v:
BMJ Open Gastroenterology, Vol 10, Iss 1 (2023)
Introduction Wilson’s disease (WD) is a copper metabolism disorder characterised by a progressive accumulation of this metal mainly in the liver and the brain. Treatment is based on the removal of copper operated by the chelators, among which, D-pe
Externí odkaz:
https://doaj.org/article/a4f75c2e3d9448a49fc9da5ad472a786
Autor:
Richard J. Thompson, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D’Antiga, Angelo Di Giorgio, Özlem Durmaz, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H.J. Houwen, Binita M. Kamath, Saul J. Karpen, Florence Lacaille, Alain Lachaux, Elke Lainka, Kathleen M. Loomes, Cara L. Mack, Jan P. Mattsson, Patrick McKiernan, Quanhong Ni, Hasan Özen, Sanjay R. Rajwal, Bertrand Roquelaure, Eyal Shteyer, Etienne Sokal, Ronald J. Sokol, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Wendy L. van der Woerd, Henkjan J. Verkade, Jennifer M. Vittorio, Terese Wallefors, Natalie Warholic, Qifeng Yu, Patrick Horn, Lise Kjems
Publikováno v:
JHEP Reports, Vol 5, Iss 8, Pp 100782- (2023)
Background & Aims: PEDFIC 2, an ongoing, open-label, 72-week study, evaluates odevixibat, an ileal bile acid transporter inhibitor, in patients with progressive familial intrahepatic cholestasis. Methods: PEDFIC 2 enrolled and dosed 69 patients acros
Externí odkaz:
https://doaj.org/article/943aa785601b46a586443dc2851475ff
Autor:
Giorgia Bucciol, Leen Moens, Masato Ogishi, Darawan Rinchai, Daniela Matuozzo, Mana Momenilandi, Nacim Kerrouche, Catherine M. Cale, Elsa R. Treffeisen, Mohammad Al Salamah, Bandar K. Al-Saud, Alain Lachaux, Remi Duclaux-Loras, Marie Meignien, Aziz Bousfiha, Ibtihal Benhsaien, Anna Shcherbina, Anna Roppelt, COVID Human Genetic Effort, Florian Gothe, Nadhira Houhou-Fidouh, Scott J. Hackett, Lisa M. Bartnikas, Michelle C. Maciag, Mohammed F. Alosaimi, Janet Chou, Reem W. Mohammed, Bishara J. Freij, Emmanuelle Jouanguy, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Vivien Béziat, Qian Zhang, Christopher J.A. Duncan, Sophie Hambleton, Jean-Laurent Casanova, Isabelle Meyts
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ ce
Externí odkaz:
https://doaj.org/article/93721eaae57f4e8c9405aeeff959098f
Autor:
Kathleen M. Loomes, Robert H. Squires, Deirdre Kelly, Sanjay Rajwal, Nisreen Soufi, Alain Lachaux, Irena Jankowska, Cara Mack, Kenneth D. R. Setchell, Palaniswamy Karthikeyan, Ciara Kennedy, Alejandro Dorenbaum, Nirav K. Desai, Will Garner, Thomas Jaecklin, Pamela Vig, Alexander Miethke, Richard J. Thompson
Publikováno v:
Hepatology Communications, Vol 6, Iss 9, Pp 2379-2390 (2022)
Abstract Children with progressive familial intrahepatic cholestasis, including bile salt export pump (BSEP) and familial intrahepatic cholestasis–associated protein 1 (FIC1) deficiencies, suffer debilitating cholestatic pruritus that adversely aff
Externí odkaz:
https://doaj.org/article/b1254fad7eda4d029fb251fe1e6c2b23
Publikováno v:
Nutrients, Vol 15, Iss 4, p 1045 (2023)
Background/Objectives: The mainstay treatment of cow’s milk allergy (CMA) is to remove cow’s milk proteins from children’s dietary intake. In this context, dietary intake of children with CMA should be particularly checked and monitored. The ob
Externí odkaz:
https://doaj.org/article/400c7461d0044b9a8b4be09ecd841f69
Autor:
Typhaine Louazon, Pierre Poinsot, Lioara Restier, Abdelouahed Belmalih, Irène Loras-Duclaux, Stéphanie Marotte, Sophie Heissat, Didier Barnoud, Cécile Chambrier, Cyrille B. Confavreux, Alain Lachaux, Justine Bacchetta, Noel Peretti
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Long-term parenteral nutrition (PN) may induce bone complications. Tridimensional bone imaging techniques such as high-resolution peripheral quantitative computed tomography (HR-pQCT) allow the assessment of both compartmental volumetric den
Externí odkaz:
https://doaj.org/article/299298a6867f4b5ebf86aa6ccc64f6a7
Autor:
Esra Karatas, Anne-Aurélie Raymond, Céline Leon, Jean-William Dupuy, Sylvaine Di-Tommaso, Nathalie Senant, Sophie Collardeau-Frachon, Mathias Ruiz, Alain Lachaux, Frédéric Saltel, Marion Bouchecareilh
Publikováno v:
JHEP Reports, Vol 3, Iss 4, Pp 100297- (2021)
Background & Aims: A single point mutation in the Z-variant of alpha 1-antitrypsin (Z-AAT) alone can lead to both a protein folding and trafficking defect, preventing its exit from the endoplasmic reticulum (ER), and the formation of aggregates that
Externí odkaz:
https://doaj.org/article/cd2a5379a66d4260bbcd81ed38d213f3
Autor:
Esra Karatas, Sylvaine Di-Tommaso, Nathalie Dugot-Senant, Alain Lachaux, Marion Bouchecareilh
Publikováno v:
European Medical Journal Hepatology, Vol 7, Iss 1, Pp 65-79 (2019)
Alpha-1 antitrypsin (AAT), encoded by the SERPINA1 gene, is a protein mainly produced and secreted by hepatocytes. Some specific mutations affecting SERPINA1 may cause accumulation of misfolded AAT in the endoplasmic reticulum of the hepatocytes lead
Externí odkaz:
https://doaj.org/article/f9abb2512c9d44fea87c05bfa8e8fa4d
Autor:
Charlotte Cuerq, Emilie Henin, Lioara Restier, Emilie Blond, Jocelyne Drai, Christophe Marçais, Mathilde Di Filippo, Christian Laveille, Marie-Caroline Michalski, Pierre Poinsot, Cyrielle Caussy, Agnès Sassolas, Philippe Moulin, Emmanuelle Reboul, Sybil Charriere, Emile Levy, Alain Lachaux, Noël Peretti
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 9, Pp 1640-1648 (2018)
Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency. Vitamin E is often supplemented in the
Externí odkaz:
https://doaj.org/article/d3ae3482ce1842fd8028966debda54e5