특발 저생식샘자극호르몬생식샘저하증의 유전학적인 특징

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참고문헌 (50)

1. Seminara SB, "Genetics of hypogonadotropic hypogonadism", J Endocrinol Invest, 23, pp.560~565 (2000)
2. Palmert MR, "Variation in the timing of puberty: clinical spectrum and genetic investigation", J Clin Endocrinol Metab, 86, pp.2364~2368 (2001)
3. Tobet SA, "Developmental aspect of the gonadotropin-releasing hormone system", Mol Cell Endocrinol, 185, pp.173~184 (2001)
4. de Roux N, "A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor", N Engl J Med, 337, pp.1597~1602 (1997)
5. Seminara SB, "The GPR54 gene as a regulator of puberty", N Engl J Med, 349, pp.1614~1627 (2003)
6. Bouligand J, "Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation", N Engl J Med, 360, pp.2742~2748 (2009)
7. Chan YM, "GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism", Proc Natl Acad Sci USA, 106, pp.11703~11708 (2009)
8. Topaloglu AK, "TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction", Nat Genet, 41, pp.354~358 (2009)
9. Beranova M, "Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism", J Clin Endocrinol Metab, 86, pp.1580~1588 (2001)
10. Kakar SS, "Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor", Biochem Biophys Res Commun, 189, pp.289~295 (1992)
11. Seminara SB, "Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations", J Clin Endocrinol Metab, 85, pp.556~562 (2000)
12. Conn PM, "Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease", Mol Cell Endocrinol, 299, pp.137~145 (2009)
13. Silveira LF, "Hypogonadotropic hypogonadism", Semin Reprod Med, 20, pp.327~338 (2002)
14. Pitteloud N, "The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor", J Clin Endocrinol Metab, 86, pp.2470~2475 (2001)
15. de Roux N, "Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54", Proc Natl Acad Sci USA, 100, pp.10972~10976 (2003)
16. Han SK, "Activation of gonadotropin-releasing hormone neurons by kisspeptin as a neuroendocrine switch for the onset of puberty", J Neurosci, 25, pp.11349~11356 (2005)
17. Navarro VM, "Characterization of the potent luteinizing hormone-releasing activity of KiSS-1 peptide, the natural ligand of GPR54", Endocrinology, 146, pp.156~163 (2005)
18. Lee DK, "Discovery of a receptor related to the galanin receptors", FEBS Lett, 446, pp.103~107 (1999)
19. Ohtaki T, "Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor", Nature, 411, pp.613~617 (2001)
20. Smith JT, "Kisspeptin expression in the brain: catalyst for the initiation of puberty", Rev Endocr Metab Disord, 8, pp.1~9 (2007)
21. Gottsch ML, "A role for kisspeptins in the regulation of gonadotropin secretion in the mouse", Endocrinology, 145, pp.4073~4077 (2004)
22. Shahab M, "Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates", Proc Natl Acad Sci USA, 102, pp.2129~2134 (2005)
23. Semple RK, "Two novel missense mutations in G protein coupled receptor 54 in a patient with hypogonadotropic hypogonadism", J Clin Endocrinol Metab, 90, pp.1849~1855 (2005)
24. Teles MG, "A GPR54-activating mutation in a patient with central precocious puberty", N Engl J Med, 358, pp.709~715 (2008)
25. Goodman RL, "Kisspeptin neurons in the arcuate nucleus of the ewe express both dynorphin A and neurokinin B", Endocrinology, 148, pp.5752~5760 (2007)
26. Gianetti E, "TAC3", TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood, 2010, pp.95, 2857~2867
27. Krajewski SJ, "Morphologic evidence that neurokinin B modulates gonadotropin releasing hormone secretion via neurokinin 3 receptors in the rat median eminence", J Comp Neurol, 489, pp.372~386 (2005)
28. Cadman SM, "Molecular pathogenesis of Kallmann’'s syndrome", Horm Res, 67, pp.231~242 (2007)
29. Pawlowitzki IH, "Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients", Am J Med Genet, 26, pp.473~479 (1987)
30. Schwanzel-Fukuda M, "Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome", Brain Res Mol Brain Res, 6, pp.311~326 (1989)
31. Soussi-Yanicostas N, "Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system", J Cell Sci, 109, pp.1749~1757 (1996)
32. Cariboni A, "The product of X-linked Kallmann’'s syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons", Hum Mol Genet, 13, pp.2781~2791 (2004)
33. Tsai PS, "Mechanisms of disease: Insights into X- linked and autosomal-dominant Kallmann syndrome", Nat Clin Pract Endocrinol Metab, 2, pp.160~171 (2006)
34. Trarbach EB, "Genetic insights into human isolated gonadotropin deficiency", Pituitary, 10, pp.381~391 (2007)
35. Salenave S, "Kallmann’'s syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1", KAL2 mutations, 2008, pp.93, 758~763
36. Pirvola U, "FGFR1 is required for the development of the auditory sensory epithelium", Neuron, 35, pp.671~680 (2002)
37. González-Martínez D, "Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann’'s syndrome", Front Neuroendocrinol, 25, pp.108~130 (2004)
38. Dodé C, "Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome", Nat Genet, 33, pp.463~465 (2003)
39. Raivio T, "Reversal of idiopathic hypogonadotropic hypogonadism", N Engl J Med, 357, pp.863~873 (2007)
40. Pitteloud N, "Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism", J Clin Invest, 117, pp.457~463 (2007)
41. Falardeau J, "Decreased FGF8 signaling causes deficiency of gonadotropin releasing hormone in humans and mice", J Clin Invest, 118, pp.2822~2831 (2008)
42. Masumoto KH, "Distinct localization of prokineticin 2 and prokineticin receptor 2 mRNAs in the rat suprachiasmatic nucleus", Eur J Neurosci, 23, pp.2959~2970 (2006)
43. Pitteloud N, "Loss of- function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism", Proc Natl Acad Sci USA, 104, pp.17447~17452 (2007)
44. Dode C, "Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2", PLoS Genet, 2, pp.e175~ (2006)
45. Cole LW, "Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum", J Clin Endocrinol Metab, 93, pp.3551~3559 (2008)
46. Abreu AP, "Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome", J Clin Endocrinol Metab, 93, pp.4113~4118 (2008)
47. Vissers LE, "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome", Nat Genet, 36, pp.955~957 (2004)
48. Pagon RA, "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association", J Pediatr, 99, pp.223~227 (1981)
49. Kim HG, "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome", Am J Hum Genet, 83, pp.511~519 (2008)
50. Jongmans MC, "CHD7 mutations in patients initially diagnosed with Kallmann syndrome- the clinical overlap with CHARGE syndrome", Clin Genet, 75, pp.65~71 (2009)

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