A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

Autor: Théo Charnay, Gregory Mougel, Cyril Amouroux, Iva Gueorguieva, Florence Joubert, Morgane Pertuit, Rachel Reynaud, Anne Barlier, Thierry Brue, Alexandru Saveanu

Publikováno v: Frontiers in Endocrinology, Vol 13 (2023)

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive impairment. TBX19 is involved in the differentiation and p

Externí odkaz: https://doaj.org/article/405bf89880e44097afccf954195d820f

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Autor: Pierre Goudet, Alain Calender, Pauline Romanet, Marie-Françoise Odou, Anne Barlier, Celine Guien, Lucie Coppin, Marie-Odile North, Françoise Borson-Chazot, Christophe Béroud, Eric Pasmant, Amira Mohamed, S. Giraud, Morgane Pertuit

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩

Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4a0fa5faef7ff96e2ed7b574e41d47
https://hal-amu.archives-ouvertes.fr/hal-01975538

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review

Autor: Morgane Pertuit, Anne Barlier, M Durand, Jean Amiel, Yohan Bodokh, Branwel Tibi, Damien Ambrosetti, Florence Pedeutour, Valérie Kubiniek

Publikováno v: Cancer genetics (Print), ISSN 2210-7762
Cancer genetics (Print), ISSN 2210-7762, Elsevier, 2018, 221, pp.31-37. ⟨10.1016/j.cancergen.2017.11.010⟩
Cancer genetics (Print), ISSN 2210-7762, 2018, 221, pp.31-37. ⟨10.1016/j.cancergen.2017.11.010⟩

International audience; Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional RCC. The first three cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea02b46d2eb4bfeb1ed290efcd779ca
https://hal-amu.archives-ouvertes.fr/hal-02000330

Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas

Autor: Dominique Figarella-Branger, Claire Rochette, Chunzhang Yang, Zhengping Zhuang, Anne Barlier, Morgane Pertuit, David Taïeb, Hélène Zattara-Canoni, Karel Pacak, Aurélie Tchoghandjian, Philippe Metellus

Publikováno v: Journal of Neuro-Oncology
Journal of Neuro-Oncology, 2016, 126 (3), pp.473--481. ⟨10.1007/s11060-015-1983-y⟩
Journal of Neuro-Oncology, Springer Verlag, 2016, 126 (3), pp.473--481. ⟨10.1007/s11060-015-1983-y⟩

International audience; Central nervous system hemangioblastomas (CNS-HBs) occur sporadically or as a component of von Hippel-Lindau-VHL syndrome. CNS-HBs share some molecular similarities with pheochromocytomas/paragangliomas (PPGLs) and renal cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff28b2a755396369a444157be8e4c8a
https://doi.org/10.1007/s11060-015-1983-y

Signalling Pathway Alterations in Pituitary Adenomas: Involvement of Gsα, cAMP and Mitogen-Activated Protein Kinases

Autor: Alain Enjalbert, Anne Barlier, Morgane Pertuit, Corinne Gerard

Publikováno v: Journal of Neuroendocrinology. 21:869-877

Despite extensive research on sporadic pituitary adenomas, it is not yet possible to assign one protein alteration to one specific type of pituitary adenomas. Nevertheless, alterations of the cAMP pathway appear to be molecular hallmarks of most grow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1827344a9c3c7d4ff5e2850aeff14381
https://doi.org/10.1111/j.1365-2826.2009.01910.x