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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
- 발행연도
- 2018.1
- 수록면
- 331 - 338 (8page)
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초록· 키워드
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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissuesin soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicineor invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP hasallowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptorin the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopicbone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of smallchemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are inclinical trials in patients with FOP.
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참고문헌 (56)
참고문헌 신청
Kaplan FS / 2012 / Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis / Dis Model Mech 5:756~762
Katagiri T / 2010 / Heterotopic bone formation induced by bone morphogenetic protein signaling: fibrodysplasia ossificans progressiva / J Oral Biosci 52:33~41
Katagiri T / 2016 / A door opens for fibrodysplasia ossificans progressiva / Trends Biochem Sci 41:119~121
Shafritz AB / 1996 / Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva / N Engl J Med 335:555~561
Kitterman JA / 2005 / Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva / Pediatrics 116:e654~e661
Katagiri T / 2010 / Heterotopic bone formation induced by bone morphogenetic protein signaling: fibrodysplasia ossificans progressiva / J Oral Biosci 52:33~41
Katagiri T / 2016 / A door opens for fibrodysplasia ossificans progressiva / Trends Biochem Sci 41:119~121
Shafritz AB / 1996 / Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva / N Engl J Med 335:555~561
Kitterman JA / 2005 / Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva / Pediatrics 116:e654~e661
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