Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Rosa Maria Guéant-Rodriguez"'
Autor:
Karim Matmat, Jean-Baptiste Conart, Paul-Henri Graindorge, Sandra El Kouche, Ziad Hassan, Youssef Siblini, Rémy Umoret, Ramia Safar, Okan Baspinar, Aurélie Robert, Jean-Marc Alberto, Abderrahim Oussalah, David Coelho, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background MTR gene encodes the cytoplasmic enzyme methionine synthase, which plays a pivotal role in the methionine cycle of one-carbon metabolism. This cycle holds a significant importance in generating S-adenosylmethionine (SAM) and S-ade
Externí odkaz:
https://doaj.org/article/5befbbb86cbf45bca915fe1435c9c244
Autor:
Adrienne Astrid Gallizzi, Almut Heinken, Rosa-Maria Guéant-Rodriguez, Jean-Louis Guéant, Ramia Safar
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundAnaphylaxis manifests as a severe immediate-type hypersensitivity reaction initiated through the immunological activation of target B-cells by allergens, leading to the release of mediators. However, the well-known underlying pathological m
Externí odkaz:
https://doaj.org/article/a71a18708cac4cd9aec24832d75b9738
Autor:
Arnaud Wiedemann, Abderrahim Oussalah, Rosa-Maria Guéant Rodriguez, Elise Jeannesson, Marc Mertens, Irina Rotaru, Jean-Marc Alberto, Okan Baspinar, Charif Rashka, Ziad Hassan, Youssef Siblini, Karim Matmat, Manon Jeandel, Celine Chery, Aurélie Robert, Guillaume Chevreux, Laurent Lignières, Jean-Michel Camadro, François Feillet, David Coelho, Jean-Louis Guéant
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104911- (2024)
Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (
Externí odkaz:
https://doaj.org/article/2d3ab102cea844078b893c2d92774c33
Autor:
Karim Matmat, Jean-Baptiste Conart, Paul-Henri Graindorge, Sandra El Kouche, Ziad Hassan, Youssef Siblini, Rémy Umoret, Ramia Safar, Okan Baspinar, Aurélie Robert, Jean-Marc Alberto, Abderrahim Oussalah, Sébastien Hergalant, David Coelho, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/90ae243dc7bf4338b25ff630391c4d92
Autor:
Tom Alix, Céline Chéry, Thomas Josse, Jean-Pierre Bronowicki, François Feillet, Rosa-Maria Guéant-Rodriguez, Farès Namour, Jean-Louis Guéant, Abderrahim Oussalah
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Clinical exome sequencing (CES) provides a comprehensive and effective analysis of relevant disease-associated genes in a cost-effective manner compared to whole exome sequencing. Although several studies have focused on the diagn
Externí odkaz:
https://doaj.org/article/5bd28e834db54a03b60eb70cb3374f2d
Autor:
Abderrahim Oussalah, Susann Rischer, Mouni Bensenane, Guillaume Conroy, Pierre Filhine-Tresarrieu, Renée Debard, Denise Forest-Tramoy, Thomas Josse, Dana Reinicke, Matthieu Garcia, Amandine Luc, Cédric Baumann, Ahmet Ayav, Valérie Laurent, Marcus Hollenbach, Cristina Ripoll, Rosa-Maria Guéant-Rodriguez, Fares Namour, Alexander Zipprich, Michael Fleischhacker, Jean-Pierre Bronowicki, Jean-Louis Guéant
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 138-147 (2018)
Summary: Background: Patients with cirrhosis are at high risk of hepatocellular carcinoma (HCC). The SEPT9 gene is a key regulator of cell division and tumor suppressor whose hypermethylation is associated with liver carcinogenesis. The primary aim o
Externí odkaz:
https://doaj.org/article/53b5425db50f47b4b3ebfbee63e14fd1
Autor:
Jean-Louis Guéant, Youssef Siblini, Céline Chéry, Guillaume Schmitt, Rosa-Maria Guéant-Rodriguez, David Coelho, David Watkins, David S. Rosenblatt, Abderrahim Oussalah
Publikováno v:
Human Genetics. 141:1309-1325
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA methylation, in which epigenome alterations are directly involved in the underlying molecular mechanisms of the disease. This review focuses on the epigenetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be63af2af9b40b746ab1c272782cf0ba
https://doi.org/10.1007/s00439-021-02414-9
https://doi.org/10.1007/s00439-021-02414-9
Autor:
Sylvie Hélène Bontemps, Carole Legagneur, Rosa-Maria Guéant-Rodriguez, Thomas Remen, Amandine Luc, Emeline Renard
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ (or eutopic gland) have transient hypothyroidism. It remains difficult to determine early on whether hypothyroidism will be transient which may c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42a4d9f0b71db547e7f588f00d6a9b25
https://doi.org/10.1515/jpem-2022-0101
https://doi.org/10.1515/jpem-2022-0101
Publikováno v:
Cells, Vol 9, Iss 8, p 1882 (2020)
Sirtuin1 (Sirt1) has a NAD (+) binding domain and modulates the acetylation status of peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α) and Fork Head Box O1 transcription factor (Foxo1) according to the nutritional status. Sirt1
Externí odkaz:
https://doaj.org/article/61f5490dd81e49669933d6f8edbaec91
Autor:
Rosa-Maria Guéant-Rodriguez, Jean-Louis Guéant, Abderrahim Oussalah, Stéphane Zuily, Irwin Rosenberg
Publikováno v:
Thrombosis and haemostasis.
Thromboembolic manifestations are relatively frequent in patients with intermediate/severe hyperhomocysteinemia (>30 µmol/L) related to inherited disorders and deficiencies in vitamin B12 and folate. In contrast, moderate hyperhomocysteinemia (15–
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54f62af982bd43c56a47f8d37f10e79
https://pubmed.ncbi.nlm.nih.gov/36170884
https://pubmed.ncbi.nlm.nih.gov/36170884