About: Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein

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About: Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein Goto Sponge NotDistinct Permalink

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scientific article published on 01 April 2000

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) wüsseschaftlicher Artikel, wo im April 2000 veröffentlicht worden isch (gsw) наукова стаття, опублікована у квітні 2000 (uk) im April 2000 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'abril de 2000 (ast) scientific article published on 01 April 2000 (en)
publication date	wds:Q73643381-9D5C6A9D-9021-4A12-BC40-255DC1105234
publication date	2000-04-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q73643381-47CA748C-7691-43E7-8D55-772E77384DD6
language of work or name	English
cites work	wds:Q73643381-079EA828-A3AA-4B5F-AAE8-570CF71A7DF1 wds:Q73643381-20DC067B-5199-4B95-9ED2-ED6BC8B6FCC6 wds:Q73643381-222F8FCA-3752-40DF-B778-801AC50EA0F9 wds:Q73643381-2AB56BDA-AB7F-4356-AC4D-995036508A90 wds:Q73643381-2CD7CBDB-5829-41B9-9017-E6BD93DB100E wds:Q73643381-4299705D-251F-4C65-A4A3-DC965E3D4DB4 wds:Q73643381-44CBBEF9-FA7E-4340-980C-6D1ADE40A53E wds:Q73643381-500746D8-FEA8-4878-A243-63371FD3677F wds:Q73643381-5B9A3952-D0D1-47A6-BE52-9336E92459DD wds:Q73643381-7164311E-8C17-4683-90E0-BC4E5DFF8720 wds:Q73643381-8AB8D1BC-23E3-443A-BBF6-CC0736CA0CD9 wds:Q73643381-8B1A358B-8C74-4C71-80E5-D45AA64E490C wds:Q73643381-9F0EB877-873F-4F42-BE39-76C8DA601802 wds:Q73643381-C2BAD2E6-278A-4AC4-8333-7FD11F221722 wds:Q73643381-EC8C95FD-C62D-40B1-9ECC-FDC5647FB3A1
cites work	Reference points for comparisons of two-dimensional maps of proteins from different human cell types defined in a pH scale where isoelectric points correlate with polypeptide compositions cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice Mutation hot spots in 5q31-linked corneal dystrophies Amyloidosis Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy Kerato-epithelin mutations in four 5q31-linked corneal dystrophies Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen A semidry electroblotting system efficiently transfers both high- and low-molecular-weight proteins separated by SDS-PAGE. Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P
author name string	wds:Q73643381-331543EA-3B14-4982-86C4-A5738976A8BD wds:Q73643381-3897EA45-6CF3-4875-90E2-26A14F348634 wds:Q73643381-4319C4A8-B5A5-446E-B346-ED06C1A9CF63 wds:Q73643381-5661C68C-4BE0-4F59-9F37-50783DA81932 wds:Q73643381-6683E429-6F77-4775-88D2-8652F2040F78 wds:Q73643381-71B9AA9F-5B52-452C-B00C-BE49740C5712 wds:Q73643381-C951E4C6-5394-4918-B97C-0771959C7A36
author name string	D F Schorderet M Yamada E Korvatska F L Munier C Bachmann Y Mashima H Henry
rdfs:label	Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (en) Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (nl)
skos:prefLabel	Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (en) Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (nl)
name	Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (en) Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (nl)
title	wds:Q73643381-2F708490-13A0-4556-93D0-2EE98F1A070E
title	Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein (en)
page(s)	wds:Q73643381-94A1E8BC-3FAE-4DAB-A5EC-8F3AE0A5AA3A
page(s)	11465-11469
instance of	wds:Q73643381-19E40F6B-D37E-4719-A452-CF3581208E17
instance of	scholarly article
main subject	wds:Q73643381-A9A59052-33EC-4BBF-A435-4A77099D9681
main subject	corneal dystrophy
PubMed ID	wds:Q73643381-9528B4D9-78C9-4CE9-A93C-AB931BF00DA1
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10753964
PubMed ID	10753964
published in	wds:Q73643381-D0E6D066-753D-4F17-B611-7EA75D053B2D
published in	Journal of Biological Chemistry
issue	wds:Q73643381-BDEC5836-4C9F-4590-A02C-9E68688D8597
volume	wds:Q73643381-435ACBB1-7539-4501-B9E8-1693375D02A5
issue	15
volume	275
DOI	wds:Q73643381-508E1B21-4851-4703-9F65-D72EC3605810
DOI	http://dx.doi.org/10.1074/JBC.275.15.11465
DOI	10.1074/JBC.275.15.11465
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73643381
is cites work of	Molecular genetics of Chinese families with TGFBI corneal dystrophies. Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation TGFBI gene mutations in corneal dystrophies. Novel fold revealed by the structure of a FAS1 domain pair from the insect cell adhesion molecule fasciclin I Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I TGFBI gene mutations in Brazilian patients with corneal dystrophy. Denaturation and solvent effect on the conformation and fibril formation of TGFBIp. The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age-Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene Lysosomal trafficking of TGFBIp via caveolae-mediated endocytosis Impaired autophagy and delayed autophagic clearance of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy type 2. Decreased catalase expression and increased susceptibility to oxidative stress in primary cultured corneal fibroblasts from patients with granular corneal dystrophy type II. Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy

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