Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Frederique Sloan-Bena"'
Autor:
Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0227411 (2020)
Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylgluta
Externí odkaz:
https://doaj.org/article/1d69a154859b4aa693da7b441971531f
Akademický článek
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Autor:
Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
Abstract Background Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced H
Externí odkaz:
https://doaj.org/article/4b782253b9a346d791f06fefdd06cabe
Autor:
Michel Guipponi, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez
Publikováno v:
Haematologica, Vol 107, Iss 5 (2021)
Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and miss
Externí odkaz:
https://doaj.org/article/c125d7ef28a24e41a5ba6e9a79701f8e
Autor:
Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci h
Externí odkaz:
https://doaj.org/article/7ad0d1de1557413a9509f459abbabbee
Autor:
Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan-Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts wit
Externí odkaz:
https://doaj.org/article/2887d59c2b434615a38d35934b46f74e
Autor:
Erika Cosset, Tieng Vannary, Frédérique Sloan-Béna, Stefania Gimelli, Eric Gerstel, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101928- (2020)
Dermal fibroblasts isolated from an apparently healthy 50-year-old man were successfully transformed into induced pluripotent stem cells (iPSCs) by using the integration-free CytoTune-iPS Sendai Reprogramming method. The generated iPSC line has been
Externí odkaz:
https://doaj.org/article/f8fe42d72cf549e99771534875e6b55b
Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101920- (2020)
Turner syndrome, caused by partial or complete loss of one copy of X-chromosome (45,X), is the most common sex chromosome abnormality in women with an incidence of 1 in 2500 female births. Here, we report the generation and characterization of induce
Externí odkaz:
https://doaj.org/article/2d4b9c64426c4f17b82904eedacf882f
Autor:
Zeynab Nayernia, Marilena Colaianna, Natalia Robledinos-Antón, Eveline Gutzwiller, Frédérique Sloan-Béna, Elisavet Stathaki, Yousef Hibaoui, Antonio Cuadrado, Jürgen Hescheler, Marie-José Stasia, Tomo Saric, Vincent Jaquet, Karl-Heinz Krause
Publikováno v:
Redox Biology, Vol 13, Iss C, Pp 82-93 (2017)
There is emerging evidence for the involvement of reactive oxygen species (ROS) in the regulation of stem cells and cellular differentiation. Absence of the ROS-generating NADPH oxidase NOX2 in chronic granulomatous disease (CGD) patients, predominan
Externí odkaz:
https://doaj.org/article/a5137036f21c4ebb988642e9de847a9f
Autor:
Silvin Lito, Patricie Burda, Matthias Baumgartner, Frédérique Sloan-Béna, Zsuzsanna Táncos, Julianna Kobolák, András Dinnyés, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycan
Externí odkaz:
https://doaj.org/article/ab0ce14b1bdb4b87825c91680080d914