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Page 1
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. Kherraf ZE, et al. Among authors: septier a. Am J Hum Genet. 2022 Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15. Am J Hum Genet. 2022. PMID: 35172124 Free PMC article.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF. Celse T, et al. Among authors: septier a. Hum Genet. 2021 Jan;140(1):43-57. doi: 10.1007/s00439-020-02229-0. Epub 2020 Oct 27. Hum Genet. 2021. PMID: 33108537
EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression.
Drelon C, Berthon A, Mathieu M, Ragazzon B, Kuick R, Tabbal H, Septier A, Rodriguez S, Batisse-Lignier M, Sahut-Barnola I, Dumontet T, Pointud JC, Lefrançois-Martinez AM, Baron S, Giordano TJ, Bertherat J, Martinez A, Val P. Drelon C, et al. Among authors: septier a. Hum Mol Genet. 2016 Jul 1;25(13):2789-2800. doi: 10.1093/hmg/ddw136. Epub 2016 May 5. Hum Mol Genet. 2016. PMID: 27149985 Free PMC article.
PKA signaling drives reticularis differentiation and sexually dimorphic adrenal cortex renewal.
Dumontet T, Sahut-Barnola I, Septier A, Montanier N, Plotton I, Roucher-Boulez F, Ducros V, Lefrançois-Martinez AM, Pointud JC, Zubair M, Morohashi KI, Breault DT, Val P, Martinez A. Dumontet T, et al. Among authors: septier a. JCI Insight. 2018 Jan 25;3(2):e98394. doi: 10.1172/jci.insight.98394. eCollection 2018 Jan 25. JCI Insight. 2018. PMID: 29367455 Free PMC article.
Adrenocortical development: Lessons from mouse models.
Dumontet T, Sahut-Barnola I, Septier A, Montanier N, Plotton I, Roucher-Boulez F, Ducros V, Lefrançois-Martinez AM, Pointud JC, Zubair M, Morohashi KI, Breault DT, Val P, Martinez A. Dumontet T, et al. Among authors: septier a. Ann Endocrinol (Paris). 2018 Jun;79(3):95-97. doi: 10.1016/j.ando.2018.03.014. Epub 2018 Apr 16. Ann Endocrinol (Paris). 2018. PMID: 29673697
Steroidogenic differentiation and PKA signaling are programmed by histone methyltransferase EZH2 in the adrenal cortex.
Mathieu M, Drelon C, Rodriguez S, Tabbal H, Septier A, Damon-Soubeyrand C, Dumontet T, Berthon A, Sahut-Barnola I, Djari C, Batisse-Lignier M, Pointud JC, Richard D, Kerdivel G, Calméjane MA, Boeva V, Tauveron I, Lefrançois-Martinez AM, Martinez A, Val P. Mathieu M, et al. Among authors: septier a. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12265-E12274. doi: 10.1073/pnas.1809185115. Epub 2018 Dec 12. Proc Natl Acad Sci U S A. 2018. PMID: 30541888 Free PMC article.
EZH2 cooperates with E2F1 to stimulate expression of genes involved in adrenocortical carcinoma aggressiveness.
Tabbal H, Septier A, Mathieu M, Drelon C, Rodriguez S, Djari C, Batisse-Lignier M, Tauveron I, Pointud JC, Sahut-Barnola I, Ragazzon B, Assié G, Bertherat J, Lefrançois-Martinez AM, Martinez A, Val P. Tabbal H, et al. Among authors: septier a. Br J Cancer. 2019 Aug;121(5):384-394. doi: 10.1038/s41416-019-0538-y. Epub 2019 Jul 31. Br J Cancer. 2019. PMID: 31363169 Free PMC article.
Intratumor heterogeneity of prognostic DNA-based molecular markers in adrenocortical carcinoma.
Jouinot A, Lippert J, Fassnacht M, de La Villeon B, Septier A, Neou M, Perlemoine K, Appenzeller S, Sibony M, Gaujoux S, Dousset B, Libe R, Groussin L, Ronchi CL, Assié G, Bertherat J. Jouinot A, et al. Among authors: septier a. Endocr Connect. 2020 Jul;9(7):705-714. doi: 10.1530/EC-20-0228. Endocr Connect. 2020. PMID: 32698135 Free PMC article.
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