Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
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Corneal dystrophiesCorneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosomeMutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyMutation hot spots in 5q31-linked corneal dystrophiesThe IC3D classification of the corneal dystrophiesCorneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutationPrimary graft failure associated with epithelial downgrowth: a case reportMutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilizationHeterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisLumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumicanTGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Differential display of human marrow stromal cells reveals unique mRNA expression patterns in response to dexamethasone.A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layerGlaucoma genetics, present and future.Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.Comparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts.Combination of phototherapeutic keratectomy and wavefront-guided photorefractive keratectomy for the treatment of Thiel-Behnke corneal dystrophyA novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Molecular genetics of Chinese families with TGFBI corneal dystrophies.Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, betaig-h3.Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literatureThe insoluble TGFBIp fraction of the cornea is covalently linked via a disulfide bond to type XII collagenDifferent phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI geneCombined granular-lattice ('Avellino') corneal dystrophy.Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.TGFBI gene mutations in a Korean population with corneal dystrophyThe TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotypeDifferential occurrence of mutations causative of eye diseases in the Chinese population.Periostin in fibrillogenesis for tissue regeneration: periostin actions inside and outside the cellSerine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid depositsGenotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsA clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.Altered mitochondrial function in type 2 granular corneal dystrophyGenome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3.Proteome profiling of wild type and lumican-deficient mouse corneas.TGFBI expression reduces in vitro and in vivo metastatic potential of lung and breast tumor cells.Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.
P2860
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P2860
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
name
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@ast
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@en
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@nl
type
label
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@ast
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@en
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@nl
prefLabel
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@ast
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@en
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@nl
P2093
P2860
P3181
P356
P1433
P1476
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
@en
P2093
D F Schorderet
D Le Paslier
E Korvatska
F L Munier
L Zografos
P2860
P2888
P304
P3181
P356
10.1038/NG0397-247
P407
P577
1997-03-01T00:00:00Z
P6179
1051836912