지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제18권 제2호
- 발행연도
- 2013.1
- 수록면
- 71 - 75 (5page)
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초록· 키워드
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Purpose: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (ESR1 ). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1 .
Methods: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609,rs12665044, and rs827421) as candidates, respectively.
Results: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1of ESR1 was increased in CDGP boys (P =0.03).
Conclusion: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
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참고문헌 (33)
참고문헌 신청
Banerjee I / 2006 / Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms / Eur J Endocrinol 155:121~126
Lin L / 2006 / A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia / J Clin Endocrinol Metab 91:5117~5121
Sedlmeyer IL / 2005 / Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing / J Clin Endocrinol Metab 90:1091~1099
Pugliese-Pires PN / 2011 / Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty / Eur J Endocrinol 165:233~241
Kauffman AS / 2009 / Sex differences in the regulation of Kiss1/NKB neurons in juvenile mice: implications for the timing of puberty / Am J Physiol Endocrinol Metab 297:E1212~E1221
Lin L / 2006 / A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia / J Clin Endocrinol Metab 91:5117~5121
Sedlmeyer IL / 2005 / Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing / J Clin Endocrinol Metab 90:1091~1099
Pugliese-Pires PN / 2011 / Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty / Eur J Endocrinol 165:233~241
Kauffman AS / 2009 / Sex differences in the regulation of Kiss1/NKB neurons in juvenile mice: implications for the timing of puberty / Am J Physiol Endocrinol Metab 297:E1212~E1221
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