VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
about
Corneal dystrophiesCongenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10Molecular basis for keratoconus: lack of TrkA expression and its transcriptional repression by Sp3Mutation altering the miR-184 seed region causes familial keratoconus with cataractAutosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectivesGenetics in Keratoconus: where are we?The pathogenesis of keratoconusTranscriptional activity of the paired-like homeodomain proteins CHX10 and VSX1Nuclear export is evolutionarily conserved in CVC paired-like homeobox proteins and influences protein stability, transcriptional activation, and extracellular secretion.Zeb1 mutant mice as a model of posterior corneal dystrophyControl of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.Genetic variations strongly influence phenotypic outcome in the mouse retina.Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconusVSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.Molecular analysis of the VSX1 gene in familial keratoconusA genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cellsUnusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconusRecent progress in histochemistry and cell biology.Genetics of keratoconus: where do we stand?Comparison of refractive development and retinal dopamine in OFF pathway mutant and C57BL/6J wild-type miceNovel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.VSX1 gene analysis in keratoconusVsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA bindingHigh prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.Keratoconus associated with congenital stationary night blindness type 1.Keratoconus associated with CSNB1.Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.Polymorphism of the DNA base excision repair genes in keratoconus.Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusHigh-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus.Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.Chromosome abnormalities and the genetics of congenital corneal opacification.
P2860
Q21093170-A37CC679-E6DF-4B29-8C2E-7D30E53D9FB9Q21202905-01D8551D-FE10-4D0C-A982-63FC18DB0DE7Q24533527-DBF8B0AB-C0D2-4E1F-8A87-F6277BF49563Q24537704-3535E993-39F2-4398-917D-40632664CC30Q24629855-8BB30241-CF12-47CA-A74C-B17DBD5A7E22Q24648422-311B22E4-6EA4-41AA-ADB5-A149BF5BADC5Q26745620-0F2D72A9-D637-4B60-A235-3030B7979FFFQ26746395-F1AC6D68-29BB-41D0-A4BE-48EBDB6A8060Q26829718-7FFE2B22-AB2D-4971-A61B-21E1A7D6B45EQ28302177-566D9287-D92F-428E-AED4-DDC10A5C87B6Q28507734-330CC17A-7615-4867-97D1-DE8D86830A32Q28510771-CC637A5C-E7CB-4DA0-9CF9-A8ACD3317E72Q28590360-49D68DB6-95DF-4785-A869-1E64A0635988Q30376738-0BD592ED-1032-4054-8AB1-6FCE0BB0CAFFQ30400314-A1386C8E-C6D7-469C-A129-AEB557036846Q30474767-2C015741-4985-404E-9F6D-92F6C4E627C0Q33552075-DE4933DC-1BD8-4C93-B4F2-81790357DB3CQ33652581-8DF89DFA-9903-4850-A559-2C6B0232ED44Q33783235-8A220872-A6A2-461A-85B8-2028F65810FFQ33910371-8752BC4E-8BE2-482C-AFFC-C7490A854AA5Q34106677-16AA2D65-D429-46DD-95C2-16FAEA790FE2Q34154910-F12B5AF5-C239-412C-9BDA-548C06431F5CQ34172616-AE45635A-85B2-493C-8253-7B91E2306C76Q34181407-712B7BC0-3726-4DCF-80B6-531B1C00A05BQ34217056-86115683-913D-4A1D-9159-68977A831A79Q34229424-343F58C9-4DB2-4309-A3DC-8FE6E86EB0CDQ34268069-BD548273-C909-43BD-835A-63AFE8C875B6Q34366127-945C965F-9C62-44EA-B2E9-0E50E90190DCQ34426547-FECD7BBC-6BCC-4575-86B7-3ADE6D7DEBB0Q34438157-8D39A7F7-08B5-4EC8-961F-F60D09C92EE8Q34525504-8AB08EBD-0528-48A8-9713-04A72837BBB2Q34533188-02462631-DF81-499A-9F2F-AD8B78AFC232Q34626573-76A62B87-C297-4F50-9484-77F6F8215870Q34664184-1F3CB24E-185E-4D4D-96E4-CF5C981FB704Q34685037-65B808CD-86F3-49E2-97D6-2AF0DEA7FD61Q34848853-2138A0C1-4C71-4098-86DE-5ADE14FFBAEEQ34848939-54C08391-3ABB-4E08-97DD-7FBA0C2F42B1Q34881029-80B3E308-888E-479E-8D50-26CA77BACBA4Q35068023-07336D14-8525-444D-B5E5-5CC2165CAED2Q35068028-11CE26F3-0DF0-4DC0-B309-60F22DFC55AD
P2860
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@ast
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@en
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@nl
type
label
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@ast
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@en
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@nl
prefLabel
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@ast
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@en
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@nl
P2093
P50
P356
P1476
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
@en
P2093
Alex Greenberg
Andrea L Vincent
Carol Westall
David Rootman
Edwin M Stone
Gail Billingsley
Godfrey Heathcote
John E Sutphin
Kelly K Kopp
Kimberley M Dorval
P304
P356
10.1093/HMG/11.9.1029
P577
2002-05-01T00:00:00Z