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LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.
Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJ, Leprovots M, Hadjidemetriou I, Monti E, David A, Wehkalampi K, Oleari R, Lettieri A, Vezzoli V, Vassart G, Cariboni A, Bonomi M, Garcia MI, Guasti L, Dunkel L. Mancini A, et al. Among authors: guasti l. JCI Insight. 2020 Jun 4;5(11):e133434. doi: 10.1172/jci.insight.133434. JCI Insight. 2020. PMID: 32493844 Free PMC article.
New directions for the treatment of adrenal insufficiency.
Ruiz-Babot G, Hadjidemetriou I, King PJ, Guasti L. Ruiz-Babot G, et al. Among authors: guasti l. Front Endocrinol (Lausanne). 2015 May 6;6:70. doi: 10.3389/fendo.2015.00070. eCollection 2015. Front Endocrinol (Lausanne). 2015. PMID: 25999916 Free PMC article. Review.
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: guasti l. 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.
Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells.
Poliandri A, Miller D, Howard S, Nobles M, Ruiz-Babot G, Harmer S, Tinker A, McKay T, Guasti L, Dunkel L. Poliandri A, et al. Among authors: guasti l. Mol Cell Endocrinol. 2017 May 15;447:12-22. doi: 10.1016/j.mce.2017.02.030. Epub 2017 Feb 21. Mol Cell Endocrinol. 2017. PMID: 28232089 Free article.
Pituitary Carcinoma in a Patient with an SDHB Mutation.
Tufton N, Roncaroli F, Hadjidemetriou I, Dang MN, Dénes J, Guasti L, Thom M, Powell M, Baldeweg SE, Fersht N, Korbonits M. Tufton N, et al. Among authors: guasti l. Endocr Pathol. 2017 Dec;28(4):320-325. doi: 10.1007/s12022-017-9474-7. Endocr Pathol. 2017. PMID: 28284009 Free PMC article.
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S, Aiken CE, Coll AP, Ma M, Rimmington D, Yeo GSH, Dunkel L. Howard SR, et al. Among authors: guasti l. J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659. doi: 10.1210/jc.2017-02147. J Clin Endocrinol Metab. 2018. PMID: 29161441 Free PMC article.
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Ruiz-Babot G, et al. Among authors: guasti l. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003. Cell Rep. 2018. PMID: 29386111 Free PMC article.
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A, Dunkel L. Howard SR, et al. Among authors: guasti l. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420-3429. doi: 10.1210/jc.2018-00646. J Clin Endocrinol Metab. 2018. PMID: 29931354 Free PMC article.
252 results