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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제15권 제3호
- 발행연도
- 2010.1
- 수록면
- 157 - 163 (7page)
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초록· 키워드
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Idiopathic hypogonadotropic hypogonadism (IHH) is defined by delayed or absent sexual development associated with inappropriately low gonadal sexual hormone and gonadotropin levels in the absence of anatomical or functional abnormalities of the hypothalamic-pituitary-gonadal axis. IHH has been divided into those associated with anosmia /hyposomia, known as Kallmann syndrome and those occurring in normosmic IHH. Recently, mutations in a number of genes associated with IHH have been identified, including: GNRH1, GNRHR, KISS1R, TAC3, TACR3, KAL1, FGF8, FGFR1, PROK2, PROKR2, and CHD7. These genes encode proteins which are involved in the regulation of gonadotropin releasing hormone (GnRH) neuronal development, migration of GnRH neurons, GnRH secretion or GnRH action. This review discusses the human genetic mutations associated with IHH and their molecular mechanism.
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참고문헌 (24)
참고문헌 신청
Beranova M / 2001 / Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism
Bouligand J / 2009 / Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation / N Engl J Med 360 : 2742 ~ 2748
Chan YM / 2009 / GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism / Proc Natl Acad Sci USA 106 : 11703 ~ 11708
Conn PM / 2009 / Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease / Mol Cell Endocrinol 299 : 137 ~ 145
Gottsch ML / 2004 / A role for kisspeptins in the regulation of gonadotropin secretion in the mouse / Endocrinology 145 : 4073 ~ 4077
Bouligand J / 2009 / Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation / N Engl J Med 360 : 2742 ~ 2748
Chan YM / 2009 / GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism / Proc Natl Acad Sci USA 106 : 11703 ~ 11708
Conn PM / 2009 / Trafficking and quality control of the gonadotropin releasing hormone receptor in health and disease / Mol Cell Endocrinol 299 : 137 ~ 145
Gottsch ML / 2004 / A role for kisspeptins in the regulation of gonadotropin secretion in the mouse / Endocrinology 145 : 4073 ~ 4077
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Mutation Analysis of the KAL Gene in Female Patients with Gonadotropin-Releasing Hormone Deficiency
Yonsei Medical Journal
2004 .01
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Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience
Annals of Pediatirc Endocrinology & Metabolism
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GnRH와 GnRH 수용체의 분자적 상호작용;GnRH-1 vs. GnRH-2
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GnRH and its regulation
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Clinical and Experimental Pediatrics
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The relationships between gonadotropin-releasing hormone (GnRH), luteinizing hormone (LH), and testosterone in males.
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Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
Annals of Laboratory Medicine
2015 .01
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KALIG-1유전자 음성을 보인 격리성 성선자극호르몬 부족증 1례
대한불임학회잡지
1998 .01
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37세 이상의 환자에서 체외수정시술시 GnRH Agonist 주기와 GnRH Antagonist 주기의 비교 연구
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2005 .01
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성선자극호르몬단독결핍성 성선기능저하증 환자의 분자유전학적 분석과 내분비기능에 관한 연구
Annals of Pediatirc Endocrinology & Metabolism
2007 .01
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The Effect of GnRH-I and GnRH-II on Human Chorionic Gonadotropin, Progesterone and Estradiol Secretion from in vitro Culture of Human Placental Explants
대한생식의학회 학술대회
2002 .01
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Comparison between GnRH Antagonist and Agonist Long Protocols in Poor Responders
대한생식의학회지
2010 .01
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Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty
Annals of Pediatirc Endocrinology & Metabolism
2011 .01
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Novel Role of GnRH-Ⅱ in Reproduction
한국실험동물학회 학술발표대회 논문집
2004 .06
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사람 태반에서 GnRH와 GnRH-receptor mRNAs의 발현
해부·생물인류학
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