An update on the genetic causes of central precocious puberty

키워드

참고문헌 (31)

1. Terasawa E, "Neurobiological mechanisms of the onset of puberty in primates", Endocr Rev, 22, pp.111~151 (2001)
2. Partsch CJ, "Management and outcome of central precocious puberty", Clin Endocrinol (Oxf ), 56, pp.129~148 (2002)
3. Carel JC, "Clinical practice: precocious puberty", N Engl J Med, 358, pp.2366~2377 (2008)
4. Gajdos ZK, "What controls the timing of puberty? An update on progress from genetic investigation", Curr Opin Endocrinol Diabetes Obes, 16, pp.16~24 (2009)
5. Palmert MR, "Variation in the timing of puberty: clinical spectrum and genetic investigation", J Clin Endocrinol Metab, 86, pp.2364~2368 (2001)
6. de Vries L, "Familial central precocious puberty suggests autosomal dominant inheritance", J Clin Endocrinol Metab, 89, pp.1794~1800 (2004)
7. Brito VN, "A llelic vari ants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities", J Clin Endocrinol Metab, 91, pp.2432~2436 (2006)
8. Freitas KC, "Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropindependent precocious puberty and isolated hypogonadotropic hypogonadism", Fertil Steril, 87, pp.627~634 (2007)
9. Silveira-Neto AP, "Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty", Horm Res Paediatr, 78, pp.144~150 (2012)
10. Tusset C, "Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders", Arq Bras Endocrinol Metabol, 56, pp.646~652 (2012)
11. Teles MG, "A GPR54-activating mutation in a patient with central precocious puberty", N Engl J Med, 358, pp.709~715 (2008)
12. Silveira LG, "Mutations of the KISS1 gene in disorders of puberty", J Clin Endocrinol Metab, 95, pp.2276~2280 (2010)
13. Abreu AP, "Central precocious puberty caused by mutations in the imprinted gene MKRN3", N Engl J Med, 368, pp.2467~2475 (2013)
14. Navarro VM, "Neuroendocrine factors in the initiation of puberty: the emergent role of kisspeptin", Rev Endocr Metab Disord, 8, pp.11~20 (2007)
15. Seminara SB, "The GPR54 gene as a regulator of puberty", N Engl J Med, 349, pp.1614~1627 (2003)
16. de Roux N, "Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54", Proc Natl Acad Sci U S A, 100, pp.10972~10976 (2003)
17. Bianco SD, "KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation", Endocrinology, 152, pp.1616~1626 (2011)
18. Leka-Emiri S, "Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty", Horm Res Paediatr, 81, pp.177~181 (2014)
19. Jong MT, "A novel imprinted gene, encoding a RING zincfinger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region", Hum Mol Genet, 8, pp.783~793 (1999)
20. Crino A, "Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome", Eur J Pediatr, 167, pp.1455~1458 (2008)
21. Lee HS, "Central precocious puberty in a girl with Prader-Willi syndrome", J Pediatr Endocrinol Metab, 26, pp.1201~1204 (2013)
22. Settas N, "Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene", J Clin Endocrinol Metab, 99, pp.E647~E651 (2014)
23. Macedo DB, "Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3", J Clin Endocrinol Metab, 99, pp.E1097~E1103 (2014)
24. de Vries L, "A novel MKRN3 missense mutation causing familial precocious puberty", Hum Reprod, 29, pp.2838~2843 (2014)
25. Schreiner F, "MKRN3 mutations in familial central precocious puberty", Horm Res Paediatr, 82, pp.122~126 (2014)
26. Grandone A, "A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene", BMC Endocr Disord, 15, pp.60~ (2015)
27. Simon D, "Mutations in the maternally imprinted gene MKRN3are common in familial central precocious puberty", Eur J Endocrinol, 174, pp.1~8 (2016)
28. Lee HS, "Low frequency of MKRN3 mutations in central precocious puberty among Korean girls", Horm Metab Res, 48, pp.118~122 (2016)
29. Neocleous V, "In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty", Clin Endocrinol (Oxf), 84, pp.80~84 (2016)
30. Ojeda SR, "Puberty in 2013: unravelling the mystery of puberty", Nat Rev Endocrinol, 10, pp.67~69 (2014)
31. Hagen CP, "Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls", J Clin Endocrinol Metab, 100, pp.1920~1926 (2015)

관련 논문AI추천