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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: gothilf y. 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.
Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome.
Garaffo G, Provero P, Molineris I, Pinciroli P, Peano C, Battaglia C, Tomaiuolo D, Etzion T, Gothilf Y, Santoro M, Merlo GR. Garaffo G, et al. Among authors: gothilf y. Front Endocrinol (Lausanne). 2013 Dec 31;4:203. doi: 10.3389/fendo.2013.00203. eCollection 2013. Front Endocrinol (Lausanne). 2013. PMID: 24427155 Free PMC article.
The Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.
Garaffo G, Conte D, Provero P, Tomaiuolo D, Luo Z, Pinciroli P, Peano C, D'Atri I, Gitton Y, Etzion T, Gothilf Y, Gays D, Santoro MM, Merlo GR. Garaffo G, et al. Among authors: gothilf y. Mol Cell Neurosci. 2015 Sep;68:103-19. doi: 10.1016/j.mcn.2015.04.007. Epub 2015 Apr 30. Mol Cell Neurosci. 2015. PMID: 25937343 Free PMC article.
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr HL, Metherell LA, Sternberg MJ, Cabrera CP, Warren HR, Barnes MR, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, André V, Gothilf Y, Cariboni A, Dunkel L. Howard SR, et al. Among authors: gothilf y. EMBO Mol Med. 2016 Jun 1;8(6):626-42. doi: 10.15252/emmm.201606250. Print 2016 Jun. EMBO Mol Med. 2016. PMID: 27137492 Free PMC article.
79 results