Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Florence Roucher"'
Autor:
Lucile Ferreux, Yasmine Boumerdassi, Emmanuel Dulioust, Xavier Bertagna, Florence Roucher-Boulez, Mathilde Bourdon, Nicolas Thiounn, Catherine Patrat
Publikováno v:
Basic and Clinical Andrology, Vol 33, Iss 1, Pp 1-8 (2023)
Résumé Introduction Le gène Nicotinamide Nucleotide Transhydrogenase (NNT) a été récemment impliqué dans l’Insuffisance Surrénalienne Primaire (ISP). Il code pour une protéine de la membrane mitochondriale interne qui produit de fortes qua
Externí odkaz:
https://doaj.org/article/401208301cb64ff5aa00ebfc171652ec
Autor:
Damien Dufour, Typhanie Dumontet, Isabelle Sahut-Barnola, Aude Carusi, Méline Onzon, Eric Pussard, James Jr Wilmouth, Julie Olabe, Cécily Lucas, Adrien Levasseur, Christelle Damon-Soubeyrand, Jean-Christophe Pointud, Florence Roucher-Boulez, Igor Tauveron, Guillaume Bossis, Edward T. Yeh, David T. Breault, Pierre Val, Anne-Marie Lefrançois-Martinez, Antoine Martinez
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
SUMOylation is a mechanism of posttranslational modification involved in eukaryotic cell homeostasis. Here the authors report that mice unable to control SUMOylation in the adrenal cortex develop a selective defect in glucocorticoid production due to
Externí odkaz:
https://doaj.org/article/94675fdf0b57490d98010c427e95a3d3
Autor:
Jordan Teoli, Delphine Mallet, Lucie Renault, Claire-Lise Gay, Elsa Labrune, Patricia Bretones, Sandrine Giscard D’Estaing, Béatrice Cuzin, Frédérique Dijoud, Florence Roucher-Boulez, Ingrid Plotton
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundSteroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spe
Externí odkaz:
https://doaj.org/article/bd8247ec449a4b639cda5b0679321f0f
Autor:
Cécily Lucas, Kay-Sara Sauter, Michael Steigert, Delphine Mallet, James Wilmouth, Julie Olabe, Ingrid Plotton, Yves Morel, Daniel Aeberli, Franca Wagner, Hans Clevers, Amit V. Pandey, Pierre Val, Florence Roucher-Boulez, Christa E. Flück
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 4 (2023)
Disorders of isolated mineralocorticoid deficiency, which cause potentially life-threatening salt-wasting crisis early in life, have been associated with gene variants of aldosterone biosynthesis or resistance; however, in some patients no such varia
Externí odkaz:
https://doaj.org/article/7c038c7fdaca42ca83fa509abb64c789
Autor:
Asmahane Ladjouze, Malcolm Donaldson, Ingrid Plotton, Nacima Djenane, Kahina Mohammedi, Véronique Tardy-Guidollet, Delphine Mallet, Kamélia Boulesnane, Zair Bouzerar, Yves Morel, Florence Roucher-Boulez
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Background3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency is a rare form of congenital adrenal hyperplasia (CAH), with fewer than 200 cases reported in the world literature and few data on outcomes.Patients and MethodsWe report a mixed longit
Externí odkaz:
https://doaj.org/article/f02b49e95a504f2db237a481c5202d46
Autor:
Jordan Teoli, Vincent Mezzarobba, Lucie Renault, Delphine Mallet, Hervé Lejeune, Pierre Chatelain, Frédérique Tixier, Marc Nicolino, Noël Peretti, Sandrine Giscard D’estaing, Béatrice Cuzin, Frédérique Dijoud, Florence Roucher-Boulez, Ingrid Plotton
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundNR0B1 pathogenic variants can cause congenital adrenal hypoplasia or primary adrenal insufficiency in early childhood usually associated with hypogonadotropic hypogonadism. NR0B1 is necessary for organogenesis of the adrenal cortex and to m
Externí odkaz:
https://doaj.org/article/ef86f28659bf4fe2a50c23e556146cd3
Autor:
Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appea
Externí odkaz:
https://doaj.org/article/ec150d01b8a7412dab3fd8beb6b7d8d1
Autor:
Cyril Garcia, Marie Dusaud, Paul Chiron, Mathilde Sollier, Sika Nassouri, Lionel Groussin, Mathilde Sibony, Claire Goursaud, Florence Roucher-Boulez, Lyse Bordier
Publikováno v:
Case Reports in Endocrinology, Vol 2021 (2021)
Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilater
Externí odkaz:
https://doaj.org/article/8d090a2dcad44155bae36d0946bcb3de
Autor:
Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Patricia Bretones, Yves Morel
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Context: MIRAGE (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy) syndrome is a severe multisystem disorder with high mortality. It is caused by a heterozygous gain of function mutation in the gro
Externí odkaz:
https://doaj.org/article/c04cb56bc8ee4fcb86f66b2f37f4ca40
Autor:
Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Yves Morel, Florence Roucher-Boulez
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well
Externí odkaz:
https://doaj.org/article/e5cd13ccfccc43d78d39643050862b98