연구동향 분석

20대 한국인에서 관찰되는 제2형 과립각막이상증의 다양한 표현형에 대한 고찰

서지형 류익희 홍진표 문자윤 최진석 전익현 김태임 김응권 2022년

논문상세정보
인용/피인용
' 20대 한국인에서 관찰되는 제2형 과립각막이상증의 다양한 표현형에 대한 고찰' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • Incomplete penetrance
  • TGFBI gene
  • granularcornealdystrophytype2
  • phenotypic variation
  • refractive surgery
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
31 0

0.0%

' 20대 한국인에서 관찰되는 제2형 과립각막이상증의 다양한 표현형에 대한 고찰' 의 참고문헌

  • 아벨리노각막이상증으로 진단된 한국인 환자의 각막병변의 분류 및 임상양상
    정소향 [2005]
  • Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
    Cao W [2009]
  • Recurrence of corneal dystrophy resulting from an R124H Big-h3 mutation after phototherapeutic keratectomy
    Inoue T [2002]
  • Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy
    Dinh R [1999]
  • Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population
    Park JE [2021]
  • Prevalence of granular corneal dystrophy type 2(Avellino corneal dystrophy)in the Korean population
    Lee JH [2010]
  • Phototherapeutic keratectomy in diffuse stromal haze in granular corneal dystrophy type 2
    Jung SH [2013]
  • Phototherapeutic keratectomy : who are the best candidates and how do you treat them?
    Rapuano CJ [2010]
  • Phenotypic non-penetrance in granular corneal dystrophy type II
    Kim JW [2008]
  • Mutation update : TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
    Kheir V [2019]
  • Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies
    송주선 [2015]
  • Lysosomal dysfunction of corneal fibroblasts underlies the pathogenesis of granular corneal dystrophy type 2 and can be rescued by TFEB
    Choi SI [2020]
  • Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
    Munier FL [1997]
  • Involvement of TGF-{beta} receptor-and integrin-mediated signaling pathways in the pathogenesis of granular corneal dystrophy II
    Choi SI [2010]
  • In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies
    Yam GH [2012]
  • Impaired autophagy and delayed autophagic clearance of transforming growth factor β-induced protein(TGFBI)in granular corneal dystrophy type 2
    Choi SI [2012]
  • Immunolocalization of beta IG-H3 protein in 5q31-linked corneal dystrophies and normal corneas
    Streeten BW [1999]
  • Homozygous granular corneal dystrophy type II(Avellino corneal dystrophy) : natural history and progression after treatment
    Moon JW [2007]
  • Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes
    Han KE [2012]
  • Exacerbation of Avellino corneal dystrophy after LASIK in North America
    Banning CS [2006]
  • Double mutation(R124H, N544S)of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies
    Yamada N [2009]
  • Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
    Jun I [2021]
  • Clinical findings and treatments of granular corneal dystrophy type 2(avellino corneal dystrophy) : a review of the literature
    Han KE [2010]
  • Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
    Diaper CJ [2005]
  • Characteristic features of granular deposit formation in granular corneal dystrophy type 2
    Kim SW [2011]
  • Avellino corneal dystrophy. Clinical manifestations and natural history
    Holland EJ [1992]
  • Avellino corneal dystrophy exacerbated after LASIK : scanning electron microscopic findings
    Roh MI [2006]
  • Avellino corneal dystrophy after LASIK
    Jun RM [2004]
  • Altered mitochondrial function in type 2 granular corneal dystrophy
    Kim TI [2011]