A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
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Corneal dystrophiesThe IC3D classification of the corneal dystrophiesRegulation of corneal stroma extracellular matrix assemblyRole of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineageExpression analysis of human pterygium shows a predominance of conjunctival and limbal markers and genes associated with cell migration.Interclass small leucine-rich repeat proteoglycan interactions regulate collagen fibrillogenesis and corneal stromal assembly.Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycansIntracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy.Congenital corneal opacities: a review with a focus on genetics.The molecular basis of corneal transparency.Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycanThe regulatory roles of small leucine-rich proteoglycans in extracellular matrix assembly.Collagens and proteoglycans of the cornea: importance in transparency and visual disorders.Proteins of the corneal stroma: importance in visual function.A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family.Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development.Genes encoding proteoglycans are associated with the risk of anterior cruciate ligament ruptures.Posterior amorphous corneal dystrophy caused by a de novo deletion.
P2860
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P2860
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@en
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@nl
type
label
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@en
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@nl
prefLabel
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@en
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@nl
P2093
P1476
A second decorin frame shift m ...... tal stromal corneal dystrophy.
@en
P2093
Cecilie Bredrup
Eyvind Rødahl
Helge Boman
Per M Knappskog
Rita Van Ginderdeuren
P304
P356
10.1016/J.AJO.2006.03.064
P407
P577
2006-09-01T00:00:00Z