Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Frederic Favreau"'
Autor:
Pierre-Antoine Faye, Nicolas Vedrenne, Federica Miressi, Marion Rassat, Sergii Romanenko, Laurence Richard, Sylvie Bourthoumieu, Benoît Funalot, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia
Publikováno v:
Brain Sciences, Vol 10, Iss 7, p 407 (2020)
Modelling rare neurogenetic diseases to develop new therapeutic strategies is highly challenging. The use of human-induced pluripotent stem cells (hiPSCs) is a powerful approach to obtain specialized cells from patients. For hereditary peripheral neu
Externí odkaz:
https://doaj.org/article/0493c22d9abb49f1be20e23aec3ee3c7
Autor:
Louise Alechinsky, Frederic Favreau, Petra Cechova, Sofiane Inal, Pierre-Antoine Faye, Cecile Ory, Raphaël Thuillier, Benoit Barrou, Patrick Trouillas, Jerome Guillard, Thierry Hauet
Publikováno v:
Biomolecules, Vol 10, Iss 3, p 439 (2020)
Background and purpose: Ischemia−reperfusion injury is encountered in numerous processes such as cardiovascular diseases or kidney transplantation; however, the latter involves cold ischemia, different from the warm ischemia found in vascular surge
Externí odkaz:
https://doaj.org/article/af972329d54148098ab26fadbe7dd868
Autor:
Souleymane Maïga, Geraldine Allain, Thierry Hauet, Jerome Roumy, Edouard Baulier, Michel Scepi, Manuel Dierick, Luc Van Hoorebeke, Patrick Hannaert, Franck Guy, Frederic Favreau
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0181067 (2017)
The vascular network is a major target of ischemia-reperfusion, but has been poorly investigated in renal transplantation. The aim of this study was to characterize the remodeling of the renal vascular network that follows ischemia-reperfusion along
Externí odkaz:
https://doaj.org/article/0c31cd2c956544c481ef96d7ac4dcdca
Autor:
Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 12, Iss 7, p 1550 (2024)
Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot–Marie–Tooth disease (CMT), the most common inherited periph
Externí odkaz:
https://doaj.org/article/9f8357a02465470db1feada18e9ab430
Autor:
Nesrine Benslimane, Camille Loret, Pauline Chazelas, Frédéric Favreau, Pierre-Antoine Faye, Fabrice Lejeune, Anne-Sophie Lia
Publikováno v:
Pharmaceuticals, Vol 17, Iss 3, p 314 (2024)
Nonsense mutations that generate a premature termination codon (PTC) can induce both the accelerated degradation of mutated mRNA compared with the wild type version of the mRNA or the production of a truncated protein. One of the considered therapeut
Externí odkaz:
https://doaj.org/article/c9bb724cfe6e47b08f7976b929da6962
Autor:
Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia
Publikováno v:
Pharmaceuticals, Vol 16, Iss 7, p 1034 (2023)
Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synthesized, or even absent linked
Externí odkaz:
https://doaj.org/article/4fcd4e5b984e4e5596c80ec1ced643e1
Autor:
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1565 (2023)
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS da
Externí odkaz:
https://doaj.org/article/38396eaa0d3e49e9a51bb45d20ac9caa
Autor:
Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)
Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations detected by NGS are sing
Externí odkaz:
https://doaj.org/article/7e358b27452f44e59045c62065768904
Autor:
Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2095-2099 (2020)
Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Varia
Externí odkaz:
https://doaj.org/article/3df217712c8f4bfbb077490f2f9795bf
Autor:
Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalenc
Externí odkaz:
https://doaj.org/article/f82f78f6f14a4d479ed7ed90ec0b8056