Structural abnormalities of the cornea and lid resulting from collagen V mutations
about
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thicknessMutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceDeleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndromeRegulation of corneal stroma extracellular matrix assemblyRegulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendonThree-dimensional aspects of matrix assembly by cells in the developing cornea.Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype.New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortiaRegulatory role of collagen V in establishing mechanical properties of tendons and ligaments is tissue dependent.Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype.Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.Human Keratoconus Cell Contractility is Mediated by Transforming Growth Factor-Beta IsoformsPromiscuous recombination of LoxP alleles during gametogenesis in cornea Cre driver mice.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsRegulation by P2X7: epithelial migration and stromal organization in the cornea.Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.Increased stromal extracellular matrix synthesis and assembly by insulin activated bovine keratocytes cultured under agarose.Structure-function relationships of postnatal tendon development: a parallel to healing.Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.Ehlers-Danlos syndrome, classical type.Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.The integrin needle in the stromal haystack: emerging role in corneal physiology and pathology.Focus on molecules: collagens V and XI.Polymorphism of the transferrin gene in eye diseases: keratoconus and Fuchs endothelial corneal dystrophy.Collagen V-heterozygous and -null supraspinatus tendons exhibit altered dynamic mechanical behaviour at multiple hierarchical scales.Identification of genes associated with primary open-angle glaucoma by bioinformatics approach.Prevalence of eyelid laxity and its association with ophthalmic findings and disease severity in patients with keratoconus.Integrated Stress Response and Decreased ECM in Cultured Stromal Cells From Keratoconus Corneas.Collagen-related genes influence the glaucoma risk factor, central corneal thickness
P2860
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P2860
Structural abnormalities of the cornea and lid resulting from collagen V mutations
description
2006 nî lūn-bûn
@nan
2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@ast
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en-gb
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@nl
type
label
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@ast
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en-gb
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@nl
prefLabel
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@ast
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en-gb
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@nl
P2093
P921
P356
P1476
Structural abnormalities of the cornea and lid resulting from collagen V mutations
@en
P2093
Allan R Slomovic
David E Birk
David S Rootman
Fani Segev
Felix Young
Inna Chervoneva
Richard J Wenstrup
William G Cole
P304
P356
10.1167/IOVS.05-0771
P407
P577
2006-02-01T00:00:00Z