Mutations in KERA, encoding keratocan, cause cornea plana
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Proteoglycan form and function: A comprehensive nomenclature of proteoglycansStem cell therapy restores transparency to defective murine corneasCorneal collagen fibril structure in three dimensions: Structural insights into fibril assembly, mechanical properties, and tissue organizationRegulation of corneal stroma extracellular matrix assemblyExpression pattern and gene characterization of asporin. a newly discovered member of the leucine-rich repeat protein familyExpression 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.Extracellular matrix molecules: potential targets in pharmacotherapy.Increased C-telopeptide cross-linking of tendon type I collagen in fibromodulin-deficient mice.Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.A novel KERA mutation associated with autosomal recessive cornea plana.Database for the mutations of the Finnish disease heritage.Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.Axial Lengths in Children with Recessive Cornea Plana.Chromosome abnormalities and the genetics of congenital corneal opacification.Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio.Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycansCase report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.Inherited corneal disease: the evolving molecular, genetic and imaging revolution.Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction.The molecular basis of corneal transparency.Small leucine rich proteoglycan family regulates multiple signalling pathways in neural development and maintenance.The regulatory roles of small leucine-rich proteoglycans in extracellular matrix assembly.Ultrastructural changes in the retinopathy, globe enlarged (rge) chick corneaNext-generation sequencing analysis of gene regulation in the rat model of retinopathy of prematurity.Collagens and proteoglycans of the cornea: importance in transparency and visual disorders.The zebrafish eye-a paradigm for investigating human ocular genetics.Small leucine-rich repeat proteoglycans in corneal inflammation and wound healing.Modifications in stromal extracellular matrix of aged corneas can be induced by ultraviolet A irradiation.The integrin needle in the stromal haystack: emerging role in corneal physiology and pathology.Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure.Development of myotendinous-like junctions that anchor cardiac valves requires fibromodulin and lumican.Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development.Cell surface glycoconjugate abnormalities and corneal epithelial wound healing in the pax6+/- mouse model of aniridia-related keratopathy.Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy.Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.Expression of a chondroitin sulfate proteoglycan, versican (PG-M), during development of rat cornea.Maintenance of the keratocyte phenotype during cell proliferation stimulated by insulin.
P2860
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P2860
Mutations in KERA, encoding keratocan, cause cornea plana
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
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name
Mutations in KERA, encoding keratocan, cause cornea plana
@ast
Mutations in KERA, encoding keratocan, cause cornea plana
@en
Mutations in KERA, encoding keratocan, cause cornea plana
@en-gb
Mutations in KERA, encoding keratocan, cause cornea plana
@nl
type
label
Mutations in KERA, encoding keratocan, cause cornea plana
@ast
Mutations in KERA, encoding keratocan, cause cornea plana
@en
Mutations in KERA, encoding keratocan, cause cornea plana
@en-gb
Mutations in KERA, encoding keratocan, cause cornea plana
@nl
prefLabel
Mutations in KERA, encoding keratocan, cause cornea plana
@ast
Mutations in KERA, encoding keratocan, cause cornea plana
@en
Mutations in KERA, encoding keratocan, cause cornea plana
@en-gb
Mutations in KERA, encoding keratocan, cause cornea plana
@nl
P2093
P356
P1433
P1476
Mutations in KERA, encoding keratocan, cause cornea plana
@en
P2093
Dieguez-Lucena JL
Kucherlapati R
Montgomery KT
de la Chapelle A
P2888
P356
10.1038/75664
P407
P577
2000-05-01T00:00:00Z
P5875
P6179
1038834817