The hypothalamic–pituitary–thyroid axis is intact in male Irs4 knockout mice

Autor: Emilie Brûlé, Xiang Zhou, Ying Wang, Evan R S Buddle, Luisina Ongaro, Mary Loka, Anita Boelen, Daniel J Bernard

Publikováno v: European Thyroid Journal, Vol 13, Iss 1, Pp 1-9 (2024)

Objective: Loss of function mutations in the insulin receptor substrate 4 (IRS4) gene cause a rare form of X-linked congenital central hypothyroidism in boys and men. Affected individuals show decreased thyroid-stimulating hormone (TSH) secretion. Me

Externí odkaz: https://doaj.org/article/4bb5a921b517487bbde883bb9523a9d5

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

Autor: Arnold Munnich, Emilie Brulé, Luc Nonnenmacher, Gajja S. Salomons, Michel Mazzuca, Pascale de Lonlay, Laurence Hubert, Vassili Valayannopoulos, Naziha Bakouh, Gabrielle Planelles, Fatna-Léa Makaci, Caroline Mellot-Draznieks, Allel Chabli, Hervé Toulhoat, Yves de Keyzer

Publikováno v: Journal of Inherited Metabolic Disease, 36(1), 103-112. Springer Netherlands
Valayannopoulos, V, Bakouh, N, Mazzuca, M, Nonnenmacher, L, Hubert, L, Makaci, F L, Chabli, A, Salomons, G S, Mellot-Draznieks, C, Brule, E, de Lonlay, P, Toulhoat, H, Munnich, A, Planelles, G & de Keyzer, Y 2013, ' Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome ', Journal of Inherited Metabolic Disease, vol. 36, no. 1, pp. 103-112 . https://doi.org/10.1007/s10545-012-9495-9

Intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (Cr) transporter deficiency syndrome resulting from mutations in the SLC6A8 gene. So far characterization of pathogenic mutations of SLC6A8 has been limited to Cr up

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::360c61da95f3414b52654b0106b18247
https://doi.org/10.1007/s10545-012-9495-9

Synthesis and biological activity of ferrocenyl derivatives of the non-steroidal antiandrogens flutamide and bicalutamide

Autor: Marie-Aude Plamont, Emilie Brulé, Anne Vessières, Helge Müller-Bunz, Michael J. McGlinchey, Siden Top, Olivier Payen, Agnès Lauzier, Gérard Jaouen

Publikováno v: Journal of Organometallic Chemistry. 696:1049-1056

A series of ferrocenyl derivatives of the two non steroidal antiandrogens flutamide and bicalutamide have been prepared. Ferrocenyl bicalutamide complexes were initially synthesized in their racemic forms, and subsequently prepared as pure (R) and (S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45eb085e4be4d320a8425e5383ed672c
https://doi.org/10.1016/j.jorganchem.2010.10.051

Metal-Catalyzed Synthesis of Alternating Copolymers

Autor: Geoffrey W. Coates, Emilie Brulé, Jia Guo, Christophe M. Thomas

Publikováno v: Macromolecular Rapid Communications. 32:169-185

The creation of polymers with a high degree of sequence and/or stereocontrol represents an exciting frontier in materials science. In order to obtain alternating polymers, coordination polymerization using well-defined metal complexes has played a le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8f03a0a258cd5c124d694cfefffee88
https://doi.org/10.1002/marc.201000524

Supported manganese porphyrin catalysts as P450 enzyme mimics for alkene epoxidation

Autor: Emilie Brulé, Yolanda R. de Miguel

Publikováno v: Tetrahedron Letters. 43:8555-8558

Manganese porphyrin catalysts have been supported on Merrifield and Argogel resins and their catalytic activity has been demonstrated in alkene epoxidation. Furthermore, recyclability studies have shown that the reuse of the Merrifield-supported cata

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da8ea790d5c50efa4b5334e9d7ec941
https://doi.org/10.1016/s0040-4039(02)02063-4