Výsledky vyhledávání

ARMC5 as a possible regulator of acetylation in the adrenal cortex in partnership with SIRT1

Autor: Annabel Berthon, Fabio Faucz, Benjamin Feldman, Ludivine Drougat, Stephanie espiard, Cavalcante Isadora Pontes, Bruno Ragazzon, Jerome Bertherat, Constantine Stratakis

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8fc13b74689679881fcfa71696e1c9e
https://doi.org/10.1530/endoabs.81.p13

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Akademický článek

Alterations of Phosphodiesterases in Adrenocortical Tumors

Autor: Fady Hannah-Shmouni, Fabio Faucz, Constantine A. Stratakis

Publikováno v: Frontiers in Endocrinology, Vol 7 (2016)

Alterations in the cyclic (c) AMP-dependent signaling pathway have been implicated in the majority of benign adrenocortical tumors (ACTs) causing Cushing syndrome (CS). Phosphodiesterases (PDEs) are enzymes that regulate cyclic nucleotide levels, inc

Externí odkaz: https://doaj.org/article/8300163b609248948af9b307e667f2bf

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SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model

Autor: Andrea Gutierrez Maria, Laura Hernandez-Ramirez, Giampaolo Trivellin, Fanny Chasseloup, Margarita Dionysiou, Gabriela Vasques, Benjamin Feldman, Chon-Hwa Tsai-Morris, Fabio Faucz, Alexander Jorge, Constantine Stratakis

Publikováno v: Journal of the Endocrine Society

Background: Short stature is a common pediatric disorder, affecting 3% of the population; however, the identification of its cause is limited by its largely variable clinical presentation and genetic heterogeneity. Identification of novel genetic cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4311ad9896632352cb4fe8352e04cf6e
http://europepmc.org/articles/PMC6553095

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Carney Complex

Autor: Crystal Kamilaris, Fabio Faucz, Antonis Voutetakis, Constantine Stratakis

Publikováno v: Experimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 127(2-03)

Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6295f166c48b9875033dd77c841f691
https://pubmed.ncbi.nlm.nih.gov/30428497

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