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Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Messina A, Pulli K, Santini S, Acierno J, Känsäkoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederländer NJ, Giacobini P, Raivio T, Pitteloud N. Messina A, et al. Among authors: santini s. Am J Hum Genet. 2020 Jan 2;106(1):58-70. doi: 10.1016/j.ajhg.2019.12.003. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883645 Free PMC article.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux PM, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederländer NJ, Pitteloud N. Bouilly J, et al. Among authors: santini s. Hum Mol Genet. 2018 Jan 15;27(2):359-372. doi: 10.1093/hmg/ddx408. Hum Mol Genet. 2018. PMID: 29202173
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhillo WS, Ferrara JM, Hauschild M, Lang-Muritano M, Lemke JR, Flück C, Nemeth A, Phan-Hug F, Pignatelli D, Popovic V, Pekic S, Quinton R, Szinnai G, l'Allemand D, Konrad D, Sharif S, Iyidir ÖT, Stevenson BJ, Yang H, Dunkel L, Pitteloud N. Cassatella D, et al. Among authors: santini s. Eur J Endocrinol. 2018 Apr;178(4):377-388. doi: 10.1530/EJE-17-0568. Epub 2018 Feb 1. Eur J Endocrinol. 2018. PMID: 29419413 Free PMC article.
Anemia in Dogs with Acute Kidney Injury.
Lippi I, Perondi F, Ghiselli G, Santini S, Habermaass V, Marchetti V. Lippi I, et al. Among authors: santini s. Vet Sci. 2024 May 13;11(5):212. doi: 10.3390/vetsci11050212. Vet Sci. 2024. PMID: 38787184 Free PMC article.
The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditions.
Fasciani I, Petragnano F, Wang Z, Edwards R, Telugu N, Pietrantoni I, Zabel U, Zauber H, Grieben M, Terzenidou ME, Di Gregorio J, Pellegrini C, Santini S Jr, Taddei AR, Pohl B, Aringhieri S, Carli M, Aloisi G, Marampon F, Charlesworth E, Roman A, Diecke S, Flati V, Giorgi F, Amicarelli F, Tobin AB, Scarselli M, Tokatlidis K, Rossi M, Lohse MJ, Annibale P, Maggio R. Fasciani I, et al. Among authors: santini s jr. PLoS Biol. 2024 Apr 29;22(4):e3002582. doi: 10.1371/journal.pbio.3002582. eCollection 2024 Apr. PLoS Biol. 2024. PMID: 38683874 Free PMC article.
Functional redundancy revealed by the deletion of the mimivirus GMC-oxidoreductase genes.
Alempic JM, Bisio H, Villalta A, Santini S, Lartigue A, Schmitt A, Bugnot C, Notaro A, Belmudes L, Adrait A, Poirot O, Ptchelkine D, De Castro C, Couté Y, Abergel C. Alempic JM, et al. Among authors: santini s. Microlife. 2024 Apr 5;5:uqae006. doi: 10.1093/femsml/uqae006. eCollection 2024. Microlife. 2024. PMID: 38659623 Free PMC article.
348 results