Année 2020

Preterm birth is associated with epigenetic programming of transgenerational hypertension in mice.
Dumeige L, Nehlich M, Viengchareun S, Perrot J, Pussard E, Lombès M, Martinerie L.
Exp Mol Med. Jan;52(1):152-165.

Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency.
Kamenický P, Blanchard A, Lamaziere A, Piedvache C, Donadille B, Duranteau L, Bry H, Gautier JF, Salenave S, Raffin-Sanson ML, Genc S, Pietri L, Christin-Maitre S, Thomas J, Lorthioir A, Azizi M, Chanson P, Le Bouc Y, Brailly-Tabard S, Young J.
J Clin Endocrinol Metab. 2020 Jan 1;105(1).

Placental production of progestins is fully effective in villous cytotrophoblasts and increases with the syncytiotrophoblast formation.
Fraichard C, Bonnet F, Garnier A, Hébert-Schuster M, Bouzerara A, Gerbaud P, Ferecatu I, Fournier T, Hernandez I, Trabado S, Guibourdenche J.

Mol Cell Endocrinol. 2020 Jan 1;499:110586.

Germline mutations in the new E1′ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP.
J Med Genet. 2020 Jan 29.

Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study.
Maione L, Pala G, Bouvattier C, Trabado S, Papadakis G, Chanson P, Bouligand J, Pitteloud N, Dwyer AA, Maghnie M, Young J.
Eur J Endocrinol. 2020 Feb;182(2):185.

Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
Travers S, Bouvattier C, Fagart J, Martinerie L, Viengchareun S, Pussard E, Lombès M.
Am J Physiol Endocrinol Metab. 2020 Feb 1;318(2):E102-E110

GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome.
Vitellius G, Lombes M.
Eur J Endocrinol. 2020 Feb 1;182(2):R15-R27.

Ce travail a été sélectionné et évalué par un membre du « Faculty of 1000″, qui a classé cet article dans le Top 2% des articles publiés en biologie et en médecine.

Management of X-linked hypophosphatemia in adults.
Lecoq AL, Brandi ML, Linglart A, Kamenický P.

Metabolism. 2020 Feb;103S:154049.

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P.
J Bone Miner Res. 2020 Feb 26.

SOD2 genetic polymorphism (rs4880) has no impact on 6-month response to antidepressant treatment and inflammatory biomarkers in depressed patients.
Ait Tayeb AEK, Becquemont L, El-Asmar K, Mahmoudi K, Colle R, Trabado S, Gressier F, Feve B, Corruble E, Verstuyft C.
Basic Clin Pharmacol Toxicol.
2020 Mar;126(3):289-295.

Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns.
Goujard C, Salenave S, Briot K, Chanson P, Grimon G, Kamenický P.
Lancet. 2020 Apr 18;395(10232):1304.

BMPR1A and BMPR1B missense mutations cause primary ovarian insufficiency.
Renault L, Patiño LC, Magnin F, Delemer B, Young J, Laissue P, Binart N, Beau I.
J Clin Endocrinol Metab. 2020 Apr 1;105(4).

Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.

Pussard E, Travers S, Bouvattier C, Xue QY, Cosson C, Viengchareun S, Martinerie L, Lombès M.
J Steroid Biochem Mol Biol. 2020 Apr;198:105553.

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.
Lebigot E, Hully M, Amazit L, Gaignard P, Michel T, Rio M, Lombès M, Thérond P, Boutron A, Golinelli-Cohen MP.

Mitochondrion. 2020 Feb 21;52:75-82.

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.
Horm Res Paediatr. 2020 Aug 5:1-15.

The novel non-steroidal MR antagonist finerenone improves metabolic parameters in high-fat diet-fed mice and activates brown adipose tissue via AMPK-ATGL pathway.

Marzolla V, Feraco A, Gorini S, Mammi C, Marrese C, Mularoni V, Boitani C, Lombès M, Kolkhof P, Ciriolo MR, Armani A, Caprio M.
FASEB J. 2020 Jul 30.

Nitric Oxide Synthase activity in major depressive episodes before and after antidepressant treatment: Results of a large case-control treatment study.
Loeb E, El Asmar K, Trabado S, Gressier F, Colle R, Rigal A, Martin S, Verstuyft C, Fève B, Chanson P, Becquemont L, Corruble E.
Psychol Med. 2020 Jun 11:1-10.

Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?
Mayeur A, Ahdad N, Hesters L, Grynberg M, Romana S, Sonigo C, Frydman N.

Reprod Biomed Online. 2020.

Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Papadakis GE, Dumont A, Bouligand J, Chasseloup F, Raggi A, Catteau-Jonard S, Boute-Benejean O, Pitteloud N, Young J, Dewailly D.
Hum Reprod. 2020 Apr 28;35(4):939-949.


In vitro maturation is a viable option for urgent fertility preservation in young women with hematological conditions.

Sonigo C, Bajeux J, Boubaya M, Eustache F, Sifer C, Lévy V, Grynberg M, Sermondade N.

Hematol Oncol. 2020 Feb 17.