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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: barnes mr. JCI Insight. 2020 Jun 4;5(11):e133434. doi: 10.1172/jci.insight.133434. JCI Insight. 2020. PMID: 32493844 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: barnes mr. 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.
Signatures of inflammation and impending multiple organ dysfunction in the hyperacute phase of trauma: A prospective cohort study.
Cabrera CP, Manson J, Shepherd JM, Torrance HD, Watson D, Longhi MP, Hoti M, Patel MB, O'Dwyer M, Nourshargh S, Pennington DJ, Barnes MR, Brohi K. Cabrera CP, et al. Among authors: barnes mr. PLoS Med. 2017 Jul 17;14(7):e1002352. doi: 10.1371/journal.pmed.1002352. eCollection 2017 Jul. PLoS Med. 2017. PMID: 28715416 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: barnes mr. 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.
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: barnes mr. 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.
211 results