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EndoBridge 2023: highlights and pearls.
Yildiz BO, Boguszewski CL, da Silva Boguszewski MC, Busetto L, Celik O, Fuleihan GE, Goulis DG, Hammer GD, Haymart MR, Kaltsas G, Law JR, Lim AYL, Luger A, Macut D, McGowan B, McClung M, Miras AD, Patti ME, Peeters RP, Pignatelli D, Saeed H, Sipos J, Stratakis CA, Tsoli M, van der Lely AJ, Witchel SF, Yazici D. Yildiz BO, et al. Among authors: pignatelli d. Hormones (Athens). 2024 Apr 15. doi: 10.1007/s42000-024-00549-8. Online ahead of print. Hormones (Athens). 2024. PMID: 38619812 Review.
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: pignatelli d. Am J Hum Genet. 2002 Dec;71(6):1433-42. doi: 10.1086/344579. Epub 2002 Nov 6. Am J Hum Genet. 2002. PMID: 12424709 Free PMC article.
Analysis and comparison of quality of life and patients' satisfaction between dental-skeletal dysmorphisms and Obstructive Sleep Apnea (OSA) patients following orthognathic surgery.
Rossi DS, Goker F, Cullati F, Baj A, Pignatelli D, Beltramini G, Russillo A, Giannì AB, Lucchina AG, Mortellaro C, Del Fabbro M. Rossi DS, et al. Among authors: pignatelli d. Eur Rev Med Pharmacol Sci. 2022 Dec;26(3 Suppl):62-77. doi: 10.26355/eurrev_202212_30796. Eur Rev Med Pharmacol Sci. 2022. PMID: 36591880 Free article.
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V. Chachlaki K, et al. Among authors: pignatelli d. Sci Transl Med. 2022 Oct 5;14(665):eabh2369. doi: 10.1126/scitranslmed.abh2369. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197968 Free PMC article.
Modulation of Autophagy in Adrenal Tumors.
Sousa D, Pereira SS, Pignatelli D. Sousa D, et al. Among authors: pignatelli d. Front Endocrinol (Lausanne). 2022 Jul 28;13:937367. doi: 10.3389/fendo.2022.937367. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35966083 Free PMC article. Review.
80 results