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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 제24권 제1호
- 발행연도
- 2019.1
- 수록면
- 2 - 14 (13page)
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초록· 키워드
오류제보하기
Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth disorders have already been identified in humans. However, recent genome-wide approaches have broadened our knowledge of the mechanisms of linear growth, not only providing novel monogenic causes of growth disorders but also revealing single nucleotide polymorphisms in genes that affect height in the general population. The genes identified as causative of linear growth disorders are heterogeneous, playing a role in various growth-regulating mechanisms including those involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. Understanding the underlying genetic defects in linear growth is important for clinicians and researchers in order to provide proper diagnoses, management, and genetic counseling, as well as to develop better treatment approaches for children with growth disorders.
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등록된 정보가 없습니다.
참고문헌 (114)
참고문헌 신청
Lango Allen H / 2010 / Hundreds of variants clustered in genomic loci and biological pathways affect human height / Nature 467:832~838
Chan Y / 2015 / Genome-wide analysis of body propor-tion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development / Am J Hum Genet 96:695~708
Marouli E / 2017 / Rare and low-frequency coding variants alter human adult height / Nature 542:186~190
Baron J / 2015 / Short and tall stature: a new paradigm emerges / Nat Rev Endocrinol 11:735~746
Lui JC / 2012 / Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height / Hum Mol Genet 21:5193~5201
Chan Y / 2015 / Genome-wide analysis of body propor-tion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development / Am J Hum Genet 96:695~708
Marouli E / 2017 / Rare and low-frequency coding variants alter human adult height / Nature 542:186~190
Baron J / 2015 / Short and tall stature: a new paradigm emerges / Nat Rev Endocrinol 11:735~746
Lui JC / 2012 / Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height / Hum Mol Genet 21:5193~5201
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