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Corneal dystrophiesCorneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosomeHeterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisA novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layerTGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Destruction of amyloid fibrils of keratoepithelin peptides by laser irradiation coupled with amyloid-specific thioflavin T.Molecular genetics of Chinese families with TGFBI corneal dystrophies.Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literatureDifferent phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).VSX1 gene analysis in keratoconusDifferential occurrence of mutations causative of eye diseases in the Chinese population.Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies.Polymorphic fibrillation of the destabilized fourth fasciclin-1 domain mutant A546T of the Transforming growth factor-β-induced protein (TGFBIp) occurs through multiple pathways with different oligomeric intermediates.Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) geneAn R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.Bigh3 silencing increases retinoblastoma tumor growth in the murine SV40-TAg-Rb model.Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies.Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides.Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child.BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.A 48-year-old man presents with bilateral corneal deposits.Gene Expression Profile of Extracellular Matrix and Adhesion Molecules in the Human Normal Corneal Stroma.TGFBI gene mutations in Brazilian patients with corneal dystrophy.A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
P2860
Q21093170-50D524F1-27E2-4320-9B5A-7E883CDEAD3BQ24314753-8FDBFDDB-4099-4A57-8AD8-F4AE4AC7DB30Q28140672-507BCAFB-C80A-492D-8506-267CA5C2569FQ33363577-474C4440-38BB-4198-AF27-78FDCB8712D6Q33762146-71A38173-8054-4E90-86BC-3403A8A99C71Q33814084-50C4E371-9478-49E2-9595-79AA779E5D2FQ33814191-069F9FF2-45FF-40DB-8FB6-7CCAE70C3E3AQ33818131-9A099DA4-809B-48DD-B20A-637EC4952A2EQ33980596-A0FD49BF-5675-4846-8D34-4C53F278011CQ34081492-BEA9B2C2-FB62-4BAC-9896-6F5706421CA9Q34366127-FA834A9D-91D7-46CA-911A-640DFC2B1431Q34540082-4970529F-5495-48EA-95DE-F3F8CE6D7FA9Q34771660-28B4F92A-4C64-4371-9314-EDF63C519035Q35156998-88483C4C-05BB-4EB3-B4ED-AD0B47B0800AQ35307531-A5EDCC35-CFA3-4D11-9F23-9C3A4BB62361Q36298504-884FF68C-9C2A-400C-A234-40E3AA1DEEDFQ36639811-932903D7-4B33-41C3-B956-5524BDB799D2Q36744471-109290B5-6DFF-44B9-A6B3-00651E80AF41Q37452641-4EEB94BD-5642-4CD8-B04A-CEDC118CD289Q37458965-BA7655A1-7504-4289-B17E-4CFFCC0F8A5BQ39014286-6C6769C5-C2E0-428F-9D81-D34BE42558EDQ42124546-ECAD495C-71C5-49CC-B1F6-AF3CC3C354C2Q42223135-1A69AF3D-A3B6-450D-A349-304E1109B0A0Q42224616-3D7FFF84-9DD6-433F-B736-73A8A9A55F89Q42250150-4C5408EE-7646-4AB5-91EC-833E06C53D1EQ44188680-0F7C2DAB-D004-43CE-9622-23A2311F165FQ46740948-BC5A50E7-5465-45B0-AE2F-45CA6D954951Q46765264-A4841C3F-72EB-4A7B-B0FB-C875C4EDD612Q49925917-EDA4E3DA-1443-4178-821F-75B7E1A078C4Q51626958-071B811F-99AC-47D7-87DE-2A7BC301AF56Q54620548-A3077C3E-7F59-4331-BA34-E81C0308A189Q54647177-F028E531-C912-4E2E-B471-D0E02D96E8B0
P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutation hot spots in 5q31-linked corneal dystrophies
@ast
Mutation hot spots in 5q31-linked corneal dystrophies
@en
Mutation hot spots in 5q31-linked corneal dystrophies
@nl
type
label
Mutation hot spots in 5q31-linked corneal dystrophies
@ast
Mutation hot spots in 5q31-linked corneal dystrophies
@en
Mutation hot spots in 5q31-linked corneal dystrophies
@nl
prefLabel
Mutation hot spots in 5q31-linked corneal dystrophies
@ast
Mutation hot spots in 5q31-linked corneal dystrophies
@en
Mutation hot spots in 5q31-linked corneal dystrophies
@nl
P2093
P2860
P3181
P356
P1476
Mutation hot spots in 5q31-linked corneal dystrophies
@en
P2093
D F Schorderet
E Ballestrazzi
E Korvatska
F L Munier
L Zografos
P2860
P3181
P356
10.1086/301720
P407
P577
1998-02-01T00:00:00Z