about
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutationsThe pathogenesis of keratoconusRegulation of corneal stroma extracellular matrix assemblyMutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literatureRole of integrins in the periodontal ligament: organizers and facilitatorsMutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilizationTGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal DystrophyTHz Medical Imaging: in vivo Hydration Sensing.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersGene therapy in the cornea: 2005--present.Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) geneSustained viral response and treatment-induced cytopenia correlate with SLCs and KLF12 genotypes in interferon/ribavirin-treated Chinese chronic hepatitis C patients.Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and agingMissense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.CRISPR-Cas Genome Surgery in Ophthalmology.Molecular genetics of Chinese families with TGFBI corneal dystrophies.Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy.Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.Macular corneal dystrophy and associated corneal thinning.Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Proteomics of Fuchs' endothelial corneal dystrophy support that the extracellular matrix of Descemet's membrane is disorderedThe TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotypeQuantitative trait loci associated with murine central corneal thickness.Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp.Fuchs endothelial corneal dystrophyAssociation of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid depositsCorneal endothelial expansion promoted by human bone marrow mesenchymal stem cell-derived conditioned mediumGenotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsToward a better understanding of human eye disease insights from the zebrafish, Danio rerio.The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductaseCorneal topography analysis of stromal corneal dystrophies.Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Atypical regressive corneal endothelial cysts in long-term confocal follow-up: a case reportAn Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Corneal dystrophies
@ast
Corneal dystrophies
@en
Corneal dystrophies
@en-gb
Corneal dystrophies
@nl
type
label
Corneal dystrophies
@ast
Corneal dystrophies
@en
Corneal dystrophies
@en-gb
Corneal dystrophies
@nl
prefLabel
Corneal dystrophies
@ast
Corneal dystrophies
@en
Corneal dystrophies
@en-gb
Corneal dystrophies
@nl
P2860
P3181
P356
P1476
Corneal dystrophies
@en
P2093
Gordon K Klintworth
P2860
P2888
P3181
P356
10.1186/1750-1172-4-7
P407
P5008
P577
2009-02-23T00:00:00Z
P5875
P6179
1027502225