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Genomes and Genes
| TGFBISummaryGene Symbol: TGFBI Description: transforming growth factor, beta-induced, 68kDa Alias: BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, RGD-CAP, RGD-containing collagen-associated protein, beta ig-h3, kerato-epithelin, transforming growth factor-beta-induced protein ig-h3 Species: human Top Publications
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Publications
Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitroR G LeBaron
Division of Life Sciences, University of Texas at San Antonio, USA
J Invest Dermatol 104:844-9. 1995..Finally, we show that recombinant beta IG-H3 supported attachment and spreading of dermal fibroblasts, suggesting that beta IG-H3 may function as an extracellular attachment protein in skin...
IgM to Bartonella henselae in cat-scratch disease and during acute Epstein-Barr virus infectionR Zbinden
Department of Medical Microbiology, University of Zurich, Switzerland
Med Microbiol Immunol 186:167-70. 1998The diagnostic value of IgM to Bartonella henselae was evaluated in 20 children with cat-scratch disease (CSD) and controls consisting of 20 blood donors and 20 children with enlarged lymph nodes without CSD by two indirect ..
[Arterial dysfunction after treatment of coarctation of the aorta]Y Aggoun
, 149, , 75743 Paris
Arch Mal Coeur Vaiss 94:785-9. 2001..of the common carotid artery (CCA) to define mechanical indexes: Cross sectional compliance (CSC), distensibility (CSD) and incremental elastic modulus (Einc) in each group...
BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophyH S Kim
Laboratory of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science, Catholic University Medical College, Seoul, Korea
Cornea 20:844-9. 2001Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether the BIGH3 gene mutation was responsible for corneal dystrophy in Korean patients.
Effect of high-dose methyl-prednisolone on brainstem encephalopathy and basal ganglia impairment complicating cat scratch diseaseJacob Genizi
Child Neurology Unit and Epilepsy Service, Meyer Children Hospital, Rambam Medical Center, Rappaport School of Medicine, Haifa, Israel
Brain Dev 29:377-9. 2007Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy ..
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literatureJuhua Yang
Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China
Mol Vis 16:1186-93. 2010To analyze human transforming growth factor b-induced (TGFBI) gene mutations in Chinese patients with corneal dystrophies (CDs).
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsFlorence Niel-Butschi
INSERM, U1016, Institut Cochin, CNRS, UMR 8104, Universite Paris Descartes, Paris, France
Mol Vis 17:1192-202. 2011Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and ..
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patientsS V V Kalyana Chakravarthi
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India
Invest Ophthalmol Vis Sci 46:121-5. 2005To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations.
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophySean L Edelstein
Saint Louis University Eye Institute, Saint Louis University School of Medicine, Saint Louis, MO, USA
Cornea 29:698-700. 2010..To present a patient with a genotype usually associated with lattice corneal dystrophy but with clinical and histopathologic features of advanced Avellino corneal dystrophy...
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophiesPreeti Paliwal
Laboratory of Cyto Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
Mol Vis 16:1429-38. 2010..of corneal dystrophy patients from North India for mutations in the transforming growth factor beta induced (TGFBI) gene, to correlate genotypes to phenotypes, to describe structural implications of various mutations on protein ..
Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIpDhara A Patel
Departments of Ophthalmology and Visual Sciences, Washington University School of Medicine, Saint Louis, MO 63110, USA
Cornea 29:1215-22. 2010..We investigated the presence of these deposits in other TGFBI mutations and the use of Thioflavin-T (ThT), a fluorescent amyloid stain for characterizing corneal amyloid ..
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findingsC Gruenauer-Kloevekorn
Department of Ophthalmology, Martin Luther University, Ernst Grube Strasse 40, 06097 Halle, Germany
Br J Ophthalmol 93:932-7. 2009To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene.
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIAKaoru Tsujikawa
Department of Ophthalmology, Osaka University Medical School, Japan
Am J Med Genet 113:20-2. 2002Lattice corneal dystrophies (LCDs) are caused by mutations of the transforming growth factor beta-induced gene (TGFBI, formerly betaig-h3). LCD type IIIA (LCDIIIA) has been reported mostly from Japan...
TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patientsAndrea L Vincent
Department of Ophthalmology, Faculty of Medical and Health Sciences, National Eye Centre, University of Auckland, Auckland, New Zealand
Br J Ophthalmol 94:836-42. 2010..Mutations in the transforming growth factor beta-induced (TGFBI) gene segregate with a wide range of phenotypically heterogeneous corneal dystrophies...
Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlationsJuan Carlos Zenteno
Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
Exp Eye Res 89:172-7. 2009..Most CDs are inherited in an autosomal dominant fashion and mutations in the TGFBI gene at chromosome 5q31 cause the majority of CDs affecting the stromal layer...
Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophyLiu Chang
Beijing Tongren Ophthalmic Center, Beijing Institute of Ophthalmology, Capital University of Medical Sciences, Beijing, China
Arch Ophthalmol 127:641-4. 2009To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD).
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutationsWenping Cao
Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China
Mol Vis 15:70-5. 2009..To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family...
Extracellular matrix protein betaig-h3/TGFBI promotes metastasis of colon cancer by enhancing cell extravasationChaoyu Ma
Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, North Carolina 27710, USA
Genes Dev 22:308-21. 2008..Here we report that elevated expression of betaig-h3/TGFBI (transforming growth factor, beta-induced), an extracellular matrix protein secreted by colon cancer cells, is ..
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophyChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory and Ophthalmic Pathology Service, Professor Brien Holden Eye Research Centre, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad 500 034, India
Arch Ophthalmol 123:1127-33. 2005..To determine genotypes in 2 Indian families with severe granular corneal dystrophy, to document clinical and histopathologic features, and to attempt a genotype-phenotype correlation...
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north IndiaPreeti Paliwal
Laboratory of Cyto Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi
Arch Ophthalmol 127:1373-6. 2009..To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin...
Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIpKasper Runager
Center for Insoluble Protein Structures, Department of Molecular Biology, Aarhus University, 8000 Aarhus, Denmark
J Biol Chem 286:4951-8. 2011Mutations in the human TGFBI gene encoding TGFBIp have been linked to protein deposits in the cornea leading to visual impairment. The protein consists of an N-terminal Cys-rich EMI domain and four consecutive fasciclin 1 (FAS1) domains...
TL1A induces the expression of TGF-β-inducible gene h3 (βig-h3) through PKC, PI3K, and ERK in THP-1 cellsSeung Hee Lee
Kyungpook National University, Daegu, Republic of Korea
Cell Immunol 266:61-6. 2010....
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese familiesZhe Liu
Department of Ophthalmology, Medical College of Zhejiang University, Hangzhou, China
Mol Vis 14:1234-9. 2008..A genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I)...
TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophyQingfeng Liang
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China
Ophthalmic Physiol Opt 32:74-80. 2012To characterize the molecular defects in the TGFBI gene in a Chinese family with Reis-Bücklers corneal dystrophy (RBCD), and to study the relationship between the gene mutations and the clinical manifestations.
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotypeClaudia Auw-Haedrich
University Eye Hospital, Freiburg, Germany
Ophthalmology 116:46-51. 2009To present the light and electron microscopic findings of a unique corneal dystrophy never before described in a German family carrying the Gly623Asp Mutation of the TGFBI gene with late clinical onset.
Transforming growth factor-beta-inducible gene-h3 (beta(ig)-h3) promotes cell adhesion of human astrocytoma cells in vitro: implication of alpha6beta4 integrinMi Ok Kim
Graduate School of East West Medical Science, Kyung Hee University, 1 Seochun, Yong In 449 701, South Korea
Neurosci Lett 336:93-6. 2003....
Covalent and non-covalent interactions of betaig-h3 with collagen VI. Beta ig-h3 is covalently attached to the amino-terminal region of collagen VI in tissue microfibrilsEric Hanssen
Department of Pathology, University of Adelaide, South Australia, 5005, Australia
J Biol Chem 278:24334-41. 2003..Overall the study supports the concept that betaig-h3 is extensively associated with collagen VI in some tissues and that it plays an important modulating role in collagen VI microfibril function...
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacitiesK Fujiki
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
Hum Genet 103:286-9. 1998..We conclude that there are now at least six different mutations that have been detected in the betaIGH3 gene on chromosome 5q31 and that lead to corneal dystrophy...
TGFBI gene mutations in Brazilian patients with corneal dystrophyH P Solari
Department of Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil
Eye (Lond) 21:587-90. 2007To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype-genotype correlation in these patients.
The transforming growth factor-beta-inducible matrix protein (beta)ig-h3 interacts with fibronectinPaul C Billings
Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 277:28003-9. 2002..Our results identify FN and Col I as two ligands of (beta)ig-h3 in the ECM...
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from UkraineV M Pampukha
Institute of Molecular Biology and Genetics, National Academy of Science of Ukraine, Kiev, Ukraine
Ophthalmologica 218:411-4. 2004In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated ..
Identification of the alphavbeta3 integrin-interacting motif of betaig-h3 and its anti-angiogenic effectJu Ock Nam
Cell and Matrix Biology National Research Laboratory, Department of Biochemistry, Kyungpook National University School of Medicine, Taegu 700 422, Korea
J Biol Chem 278:25902-9. 2003..Our results reveal that betaig-h3 bears alphavbeta3 integrin-interacting motifs that mediate endothelial cell adhesion and migration and, therefore, may regulate angiogenesis...
Expression of TGF-beta-induced matrix protein betaig-h3 is up-regulated in the diabetic rat kidney and human proximal tubular epithelial cells treated with high glucoseSuk Hee Lee
Cell and Matrix Biology, National Research Laboratory, Kyungpook National University, Taegu, Korea
Kidney Int 64:1012-21. 2003..TGF-beta is believed to be involved in the development of diabetic nephropathy and thus we have assessed the possibility that betaig-h3 may be a downstream molecule in this pathogenic process...
Beta ig-h3 mediates osteoblast adhesion and inhibits differentiationNarendra Thapa
Institute of Cell and Matrix Biology Research, Department of Biochemistry, School of Medicine, Kyungpook National University, Daegu 700 422, South Korea
Bone 36:232-42. 2005..We suggest that these interacting integrins may play an important role in betaig-h3-mediated inhibition of osteoblast differentiation...
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type IXin Tian
Department of Ophthalmology, Third Hospital, Peking University, Beijing, China
Jpn J Ophthalmol 49:84-8. 2005To report a novel V505D mutation of the human transforming growth factor beta-induced (TGFBI) gene found in a Chinese family with lattice corneal dystrophy, type I (LCDI).
A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) geneAnthony J Aldave
Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Ophthalmology 112:1017-22. 2005To report a unique corneal dystrophy characterized by deposits at Bowman's layer and stromal lattice lines associated with the Gly623Asp missense mutation in the transforming growth factor beta-induced (TGFBI) gene.
A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophyNguyen Thanh Ha
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
Jpn J Ophthalmol 47:246-8. 2003Mutation of the human transforming growth factor beta-induced (TGFBI) gene causes granular corneal dystrophy (GCD) in various ethnic groups...
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI geneK Hirano
Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan
Cornea 20:525-9. 2001To report two Japanese patients who were clinically diagnosed with late-onset and sporadic lattice corneal dystrophy (LCD) in whom a Leu527Arg mutation in the TGFBI gene was found.
Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI geneP Dighiero
Department of Ophthalmology, Hotel Dieu Hospital, Paris, France
Ophthalmology 108:818-23. 2001..To establish a phenotype-genotype correlation of various autosomal-dominant corneal dystrophies among French subjects...
RGD peptides released from beta ig-h3, a TGF-beta-induced cell-adhesive molecule, mediate apoptosisJung Eun Kim
Department of Biochemistry, Kyungpook National University School of Medicine, Taegu, Korea
Oncogene 22:2045-53. 2003..The anti-beta ig-h3 antibody blocks TGF-beta-induced apoptosis. Thus, beta ig-h3 may be important in regulating cell apoptosis by providing soluble RGD peptides...
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysisShigeo Yoshida
Department of Ophthalmology, Kyushu University Graduate School of Medicine, Fukuoka, Japan
Am J Ophthalmol 137:586-8. 2004..To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines...
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI geneAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA
Am J Ophthalmol 138:772-81. 2004To report a phenotypic variant of lattice corneal dystrophy associated with two missense changes, Ala546Asp and Pro551Gln, in the transforming growth factor-beta-induced gene (TGFBI).
Unusual phenotype of an individual with the R124C mutation in the TGFBI geneNaoyuki Morishige
Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, Ube, Japan
Arch Ophthalmol 122:1224-7. 2004
Identification of motifs in the fasciclin domains of the transforming growth factor-beta-induced matrix protein betaig-h3 that interact with the alphavbeta5 integrinJung Eun Kim
Cell and Matrix Biology National Research Laboratory, Department of Biochemistry, Kyungpook National University School of Medicine, Taegu 700 422, Korea
J Biol Chem 277:46159-65. 2002..This suggests that fas-1 domain-containing proteins may perform their biological functions by interacting with integrins...
R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1Y Hellenbroich
Institut fur Humangenetik, Universitatsklinikum Lubeck, Deutschland
Ophthalmologica 215:444-7. 2001..The resulting data revealed no association with the variable clinical course...
Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) geneDavid E Eifrig
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
Ophthalmology 111:1108-14. 2004..To characterize the clinicopathologic phenotype as well as the molecular genetic basis of an autosomal dominant form of corneal amyloidosis...
Clinical outcome of eight BIGH3-linked corneal dystrophiesPierre Ellies
Department of Ophthalmology, Hopital Hotel Dieu de Paris, 1 Place du Parvis Notre Dame, 75004 Paris, France
Ophthalmology 109:793-7. 2002To determine whether the mutational pattern of BIGH3-linked corneal dystrophies (CDs) can accurately predict the clinical course of the disease and be helpful in planning adequate surgical treatment.
BIGH3 mutation spectrum in corneal dystrophiesFrancis L Munier
Hopital Jules Gonin, Department of Ophthalmology, Lausanne, Switzerland
Invest Ophthalmol Vis Sci 43:949-54. 2002To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity.
Molecular properties of wild-type and mutant betaIG-H3 proteinsJung Eun Kim
Department of Biochemistry, School of Medicine, Kyungpook National University, 101 Dongin dong, Jung Gu, Taegu, 700 422 Korea
Invest Ophthalmol Vis Sci 43:656-61. 2002..To understand the mechanisms of protein deposits in 5q31-linked corneal dystrophies, the molecular properties of betaIG-H3 and the effects of mutation on these properties were studied in vitro...
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied familyGordon K Klintworth
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA
Invest Ophthalmol Vis Sci 45:1382-8. 2004..To determine the genetic basis for lattice corneal dystrophy (LCD) in an extensively studied family...
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type ITohru Sakimoto
Department of Ophthalmology, Nihon University, School of Medicine, Tokyo, Japan
Jpn J Ophthalmol 47:13-7. 2003We examined transforming growth factor beta-induced (TGFBI) gene mutations in a family with lattice corneal dystrophy type I.
Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAMMark Aitkenhead
Molecular Biology and Biochemistry, University of California at Irvine, Irvine, California 92697, USA
Microvasc Res 63:159-71. 2002..These data expand the suite of genes implicated in vascular remodeling and angiogenesis...
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-betaJ Skonier
Bristol Myers Squibb, Seattle, WA 98121
DNA Cell Biol 11:511-22. 1992..Since beta ig-h3 is induced in several cell lines whose proliferation is affected by TGF-beta 1, it may be involved in mediating some of the signals of this multifunctional growth modulator...
A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layerCatherine E Wheeldon
Department of Ophthalmology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand
Mol Vis 14:1503-12. 2008..CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene...
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) genePablo Romero
Depto de Oftalmologia, Hospital Clínico José Joaquín Aguirre, Universidad de Chile, Santiago, Chile
Mol Vis 14:829-35. 2008..To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family...
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophyM Okada
Department of Ophthalmology, Osaka University Medical School, Japan
Am J Ophthalmol 126:535-42. 1998..To see whether there was a genetic basis for these phenotypic variations, we analyzed beta ig-h3, the gene that codes for kerato-epithelin and that contains a mutation (Arg555Gln) that causes RBCD...
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIAS Yamamoto
Am J Hum Genet 62:719-22. 1998
Mutation hot spots in 5q31-linked corneal dystrophiesE Korvatska
Unit of Molecular Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Am J Hum Genet 62:320-4. 1998Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies...
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy IChunmei Zhang
Department of Ophthalmology, Harbin Medical University The 2nd Affiliated Hospital, Harbin, China
Mol Vis 15:2498-502. 2009To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagenK Hashimoto
Department of Removal Prosthodontics, School of Dentistry, Hiroshima University, Japan
Biochim Biophys Acta 1355:303-14. 1997..Since RGD-CAP transcripts were found in most tissues, this novel collagen-binding protein may play an important role in cell-collagen interactions in various tissues including developing cartilage...
Kerato-epithelin mutations in four 5q31-linked corneal dystrophiesF L Munier
Unit of Molecular Genetics, CHUV, Lausanne, Switzerland
Nat Genet 15:247-51. 1997Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies...
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophyXingwu Zhong
Zhongshan Ophthalmic Center and State Key Laboratory of Ophthalmology, Sun Yat Sen University, Guangzhou, P R China
Mol Vis 16:224-30. 2010To report novel transforming growth factor beta-induced (TGFBI) mutations responsible for lattice corneal dystrophy (LCD), the associated genotype-phenotype correlation, and structural changes in the mutant proteins in three Chinese ..
Three autosomal dominant corneal dystrophies map to chromosome 5qE M Stone
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242
Nat Genet 6:47-51. 1994..The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5...
cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epitheliumJ Escribano
Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, Connecticut 06510
J Cell Physiol 160:511-21. 1994....
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 miceJ Skonier
Bristol Myers Squibb, Pharmaceutical Research Institute Seattle, WA 98121
DNA Cell Biol 13:571-84. 1994..The corresponding mouse beta ig-h3 gene was mapped to mouse chromosome 13 region B to C1, which confirms a region of conservation on human chromosome 5 and mouse chromosome 13. We suggest that this protein be named p68 beta ig-h3...
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisH S Stewart
Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
Hum Mutat 14:126-32. 1999Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers...
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBIDandan Li
Department of Ophthalmology, Harbin Medical University The 2nd Affiliated Hospital, Harbin, China
Mol Vis 14:1298-302. 2008To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD).
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in JapanY Mashima
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
Am J Ophthalmol 130:516-7. 2000To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal dominant trait.
Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI geneTomoyo Funayama
Jpn J Ophthalmol 50:62-4. 2006
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3Sandrine Boutboul
Centre de Recherche Thérapeutique en Ophtalmologie CERTO, Faculté Necker Enfants Malades, Paris, France
Hum Mutat 27:553-7. 2006..as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies...
[A research on TGFBI gene mutations in Chinese families with corneal dystrophies]Yan hua Qi
Department of Ophthalmology, The Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150086 PR China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:310-2. 2006To identify what kind of TGFBI gene mutation happening to Chinese patients with corneal dystrophies.
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type ILa ongsri Atchaneeyasakul
Department of Ophthalmology, Siriraj Hospital Mahidol University, Bangkok, Thailand
Jpn J Ophthalmol 50:403-8. 2006To describe a large Thai family with lattice corneal dystrophy (LCD) type I and to determine whether this LCD is associated with mutations within the transforming growth factor-beta-induced (TGFBI) gene.
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI geneXin Tian
Department of Ophthalmology, Third Hospital, Peking University, Beijing, China
Am J Ophthalmol 144:473-5. 2007To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy.
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophyVicente Correa-Gomez
Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
Mol Vis 13:1695-700. 2007To report the clinical, molecular, and histopathological features of a distinct transforming growth factor-beta-induced (TGFBI) gene-linked amyloidotic corneal dystrophy exhibiting an unusual lattice pattern.
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophyXinping C Zhao
Department of Ophthalmology and Visual Science and Hermann Eye Center, University of Texas Health Science Center at Houston, Houston, Texas, USA
Ophthalmology 114:e39-46. 2007Bowman's layer corneal dystrophies (CDBs) include 2 distinct types: CDB1, or Reis-Bücklers (RBCD), and CDB2, or Thiel-Behnke (TBCD)...
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126P Dighiero
Laboratoire de Biochimie et Genetique Moleculaire, 123 boulevard du Port Royal, 75014 Paris, France
Arch Ophthalmol 118:814-8. 2000To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy.
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 geneK Hirano
Department of Ophthalmology, Nagoya University School of Medicine, Aichi, Japan
Br J Ophthalmol 84:583-5. 2000..To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found...
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech familiesPetra Liskova
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
Ophthalmic Res 40:105-8. 2008To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. OnlineC Rozzo
Istituto di Genetica Molecolare, C N R, Alghero, Italy
Hum Mutat 12:215-6. 1998..Recently RBCD, together with lattice corneal dystrophy type I (LCDI), granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all mapped on 5q31, were found to be associated to four different mutations ..
Cat scratch disease and acquired immunodeficiency disease: diagnosis by transmission electron microscopyJ G Guccion
Pathology and Laboratory Medicine Service, Department of Veterans Affairs Medical Center, Washington, DC, USA
Ultrastruct Pathol 20:195-202. 1996..The diagnosis of cat scratch disease (CSD) became apparent only after transmission electron microscopic study of the lymph node revealed clusters of small, ..
[Serological cross-reaction among Bartonella henselae, Chlamydia pneumoniae and Coxiella burnetii by indirect fluorescence antibody method]H Tsuneoka
Department of Clinical Laboratory, Yamaguchi-ken Kouseiren Nagato General Hospital
Kansenshogaku Zasshi 75:406-10. 2001..burnetii by indirect fluorescence antibody (IFA) method, using sera from 8 patients with cat scratch disease (CSD), 13 patients with C. pneumoniae infection and 12 patients with acute Q fever. B...
Downregulation of human polymorphonuclear cell activities exerted by microorganisms belonging to the alpha-2 subgroup of Proteobacteria (Afipia felis and Rochalimaea henselae)D Fumarola
Institutes of Medical Microbiology, General Pathology, University of Bari, Italy
Immunopharmacol Immunotoxicol 16:449-61. 1994..A. falis has been previously proposed as the causative agent of Cat Scratch Disease (CSD), but several recent lines of evidence attribute a major role to R. henselae...
[A study on wounds caused by cats as basic materials of cat scratch disease]Y Arashima
Department of Clinical Pathology, Nihon University School of Medicine
Kansenshogaku Zasshi 68:734-9. 1994..Their injuries clearly differed from those of the other groups. In our survey 33 cases were suspected to have CSD; 19 of 102 veterinarians, 4 of 45 veterinary technicians, 2 of 517 students of veterinary college, 1 of 400 ..
[Bartonella henselae as a cause of optical nerve neuritis]Dragan Veselinović
Klinicki centar, Klinika za ocne bolesti, Nis, Srbija
Vojnosanit Pregl 63:971-4. 2006..included into the group of gram-negative bacteria that can cause not so rare disease known as cat-scratch disease (CSD)...
[Two patients with Bartonella henselae infection from a dog]I Murano
Department of Pediatrics, Yamaguchi Prefectural Central Hospital
Kansenshogaku Zasshi 75:808-11. 2001..Careful review of suspected CSD victims' history of contact with animals is important in making a prompt diagnosis of B. henselae infection.
Cervical lymphadenitis and cat scratch disease (CSD): an overlooked disease?P Rombaux
Department of Otolaryngology Head and Neck Surgery, Universite Catholique de Louvain, Saint Luc University Hospital, Brussels, Belgium
Acta Otorhinolaryngol Belg 54:491-6. 2000Cat Scratch Disease (CSD) is a benign disease characterized by regional lymphadenopathy affecting most frequently the head and neck region in children and young adults...
[Cardiovascular impact of end-stage renal insufficiency in children undergoing hemodialysis]Y Aggoun
, , Paris
Arch Mal Coeur Vaiss 93:1009-13. 2000..the wall (intima-media thickness, IMT), the cross sectional compliance (CSC), the cross sectional distensibility (CSD) and the (Einc) were determined. CSC and CSD were evaluated at the same level of pressure...
[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis]F Chiambaretta
Service d Ophtalmologie, Hopital Gabriel Montpied, BP 69, Clermont Ferrand Cedex, France
J Fr Ophtalmol 27:449-56. 2004..corneal dystrophy Groenouw type 1 (GGI) is a rare autosomal dominant disease caused by allelic mutations of the BIGH3 gene...
[Determination of anti-Bartonella henselae antibody by indirect fluorescence antibody test--comparison of two types of antigen: non-cocultivated B. henselae and cocultivated B. henselae with Vero cells]H Tsuneoka
Department of Clinical Laboratory, Yamaguchi-ken Kouseiren Nagato General Hospital
Kansenshogaku Zasshi 72:801-7. 1998Serum anti-Bartonella henselae IgG and IgM antibody titers for the diagnosis of cat scratch disease (CSD) were determined by indirect fluorescence antibody (IFA) tests. B...
Seroprevalence of antibodies to Bartonella henselae in patients with cat scratch disease and in healthy controls: evaluation and comparison of two commercial serological testsA Sander
Abteilung Mikrobiologie und Hygiene, Institut fur Medizinische Mikrobiologie und Hygiene, Klinikum der Universität Freiburg, Germany
Clin Diagn Lab Immunol 5:486-90. 1998..is a widely accepted diagnostic procedure for laboratory confirmation of the diagnosis of cat scratch disease (CSD). In this study a commercially available indirect immunofluorescence assay (IFA) based on B...
[Clinical evaluation of commercial serological test for Bartonella infection]H Tsuneoka
Department of Clinical Laboratory, Yamaguchi-ken Kouseiren Nagato General Hospital
Kansenshogaku Zasshi 74:387-91. 2000..henselae was negative in all individuals. Serological diagnosis of cat scratch disease (CSD) using indirect fluorescence antibody (IFA) methods (in-house and diagnostic kit) was made in either elevated ..
Etiology of three recent diseases of citrus in São Paulo State: sudden death, variegated chlorosis and huanglongbingJoseph Marie Bové
UMR Génomique, Développement et Pouvoir Pathogène, Laboratoire de Biologie Cellulaire et Moleculaire, IBVM, Université Victor Ségalen Bordeaux 2 et INRA, Centre INRA de Bordeaux, Villenave d Ornon Cedex, France
IUBMB Life 59:346-54. 2007..The new disease, citrus sudden death (CSD), resembles T-QD in several aspects...
Characterization of Bartonella clarridgeiae flagellin (FlaA) and detection of antiflagellin antibodies in patients with lymphadenopathyA Sander
Institute for Medical Microbiology and Hygiene, University of Freiburg, Freiburg, Germany
J Clin Microbiol 38:2943-8. 2000Cat scratch disease (CSD) is a frequent clinical outcome of Bartonella henselae infection in humans. Recently, two case reports indicated Bartonella clarridgeiae as an additional causative agent of CSD...
[Longitudinal study of serological response to Bartonella henselae by indirect fluorescence assay in cat scratch disease]N Kusaba
Department of Medicine, Yame General Hospital
Kansenshogaku Zasshi 75:557-61. 2001..IgG and IgM titers to Bartonella henselae were evaluated by an indirect fluorescence assay (IFA) in patients with CSD. The IFA test for the detection of IgG and IgM antibodies to B. henselae in 52 CSD patients showed that 40 (76...
Synaptic connections of the cuticular stress detectors in crayfish: mono- and polysynaptic reflexes and the entrainment of fictive locomotion in an in vitro preparationC S Leibrock
Institute of Biomedical and Life Sciences, University of Glasgow, Scotland, UK
J Comp Physiol A 178:711-25. 1996The reflex connections made by Cuticular Stress Detector afferents (CSD1 and CSD2) with motorneurones of the four proximal muscle groups in the 5th walking legs of crayfish (Procambarus clarkii, Pacifastacus leniusculus) have been studied ..
[Evaluation of serological response to Bartonella henselae by enzyme immunoassay in cat scratch disease]H Yoshida
Department of Medicine, Yame General Hospital
Kansenshogaku Zasshi 74:563-6. 2000..The EIA test for detection of IgG and IgM antibodies to B. henselae concerning CSD showed that 8 (40%) of 20 patients with CSD had a serum IgG antibody titer of 12 EIA unit or more and that 5 (25%) ..
Inhibitory activities of sulfated proteoglycans on chondroitin sulfate A-mediated cytoadherence of Plasmodium falciparum isolates from ThailandSujittra Chaisavaneeyakorn
Department of Microbiology, Faculty of Science, Mahidol University, Bangkok, Thailand
Am J Trop Med Hyg 70:149-57. 2004..decrease in PE adhesion to immobilized CSA and CSA-expressed cells was achieved with soluble chondroitin sulfate D (CSD) and chondroitin sulfate E (CSE) at low concentrations...
Detection of antibodies to Bartonella henselae in clinically diagnosed cat scratch diseaseJ P Flexman
Department of Clinical Microbiology and Infectious Diseases, Royal Perth Hospital, WA
Med J Aust 166:532-5. 1997To determine the usefulness of an indirect immunoflourescence antibody test for antibodies to Bartonella henselae in diagnosing cat scratch disease (CSD).
Musculoskeletal manifestations of cat scratch diseaseEran Maman
Department of Pediatric Orthopaedics, Dana Children s Hospital
Clin Infect Dis 45:1535-40. 2007Musculoskeletal manifestations (MMs) are considered to be rare in cat scratch disease (CSD) and are not well characterized. We aimed to study MMs of CSD.
Serologic response to Bartonella henselae in patients with cat scratch disease and in sick and healthy childrenT Not
Clinica Pediatrica and Istituto d Igiene, Trieste, Italy
Acta Paediatr 88:284-9. 1999..is the most reliable test for detecting antibody to Bartonella henselae in the diagnosis of cat scratch disease (CSD). Recently, an ELISA test has been proposed, but conflicting results are reported...
Research Grants
- IN VIVO STUDIES OF THE EPILEPTIC HIPPOCAMPUSJerome Engel; Fiscal Year: 2002..In the course of these experiments we will utilize current source density (CSD) and voltage depth profile analysis, and single unit recording in both rats and patients...
- QUANTITATIVE ANALYSIS OF LEFT VENTRICULOPLASTY--CHFMark Ratcliffe; Fiscal Year: 2009..on akinetic infarcts), passive constraint device procedures such as the Acorn CorCapTM Cardiac Support Device (CSD), and cell transplantation are currently being performed...
- ABNORMAL BIGH3 AGGREGATIONS IN CORNEAL DYSTROPHIESAndrew J W Huang; Fiscal Year: 2010b>bIGH3 (keratoepithelin) is a constituent of the extracellular matrix (ECM) responsible for cell adhesion...
- BIGH3 Wild-Type and Mutant ProteinsGORDON KENNETH KLINTWORTH; Fiscal Year: 2010..Mutations in the TGFBI (BIGH3) gene are responsible for several phenotypically different inherited corneal diseases that have no apparent non-..
- Mechanism of Medication Overuse Headache and Chronic Migraine PainFrank Porreca; Fiscal Year: 2010..unknown, an important theory suggests that migraine may occur as a consequence of cortical spreading depression (CSD)...
- MIGRAINE DRUG PROPHYLAXISMichael Moskowitz; Fiscal Year: 2007..that chronic daily administration of each drug suppressed the susceptibility to cortical spreading depression (CSD), a poorly understood, slowly propagating electrophysiological event...
- Genetic Risk Factors for Visceral LeishmaniasisMARY EDYTHE contact WILSON; Fiscal Year: 2010..Aims of this RO1 are: 1. To test the hypothesis that candidate genes (SLC11A1, IL4-LECT2/TGFBI, HLA) determine susceptibility to cVL and to asymptomatic infection (DTH+) using dense tag-SNPs, with sample sizes ..
- Surgery to Prevent Postinfarction Ventricular RemodelingRobert Gorman; Fiscal Year: 2009..therapeutic approaches to limit infarct expansion early after MI will be studied: heart wrapping with the Acorn CSD(R), infarct reperfusion and calcium hydroxyapatite microsphere gel injection...
- Surgery to Prevent Postinfarction Ventricular RemodelingRobert C Gorman; Fiscal Year: 2010..therapeutic approaches to limit infarct expansion early after MI will be studied: heart wrapping with the Acorn CSD(R), infarct reperfusion and calcium hydroxyapatite microsphere gel injection...
- VASCULAR RESPONSES DURING CORTICAL SPREADING DEPRESSIONDavid Busija; Fiscal Year: 2001Cortical spreading depression (CSD) is a wave of depolarization that results in complex changes in pial arteriolar diameter, intense vasodilation lasting approximately 2 minutes, a return of diameter to baseline for several minutes, and ..
- QUANTITATIVE ANALYSIS OF LEFT VENTRICULOPLASTY--CHFMark B Ratcliffe; Fiscal Year: 2010..on akinetic infarcts), passive constraint device procedures such as the Acorn CorCapTM Cardiac Support Device (CSD), and cell transplantation are currently being performed...
- FUNCTION OF TAURINE IN THE PRIMARY OLFACTORY PATHWAYIgor Kratskin; Fiscal Year: 2003..high gene expression of the rate-limiting enzyme of taurine biosynthesis, cysteine sulfinic acid decarboxylase (CSD)...
- Migraine Pathophysiology and Treatment MechanismsMichael Moskowitz; Fiscal Year: 2007..Project 1 proposes to examine cortical spreading depression (CSD) in normal and genetically modified mice and expand upon a recent novel finding that prophylactic antimigraine ..
- Phase II Study of Imatinib Mesylate in Patients with Inoperable Melanoma Gary K Schwartz; Fiscal Year: 2010..skin on the palms and soles (acral melanomas), on mucosal membranes, and from skin with chronic sun-induced damage (CSD) have distinctive patterns of chromosomal alterations as compared with the more common subtypes of melanoma arising ..
- Neural & Vascular Dysfunction As Mechanisms of Injury in Genetic Migraine ModelsCenk Ayata; Fiscal Year: 2010..migraine expressing human mutations in implicated genes, as well as data implicating cortical spreading depression (CSD) in migraine aura...
- CRCNS: Integrated Empirical and Multiscale Modeling of Human Sleep SpindlesTerrence J Sejnowski; Fiscal Year: 2010..2) Analyze the recorded cortical Current Source Density (CSD) using Principal Components Analysis (PCA)...
- CRCNS: Integrated Empirical and Multiscale Modeling of Human Sleep SpindlesTerrence Sejnowski; Fiscal Year: 2009..2) Analyze the recorded cortical Current Source Density (CSD) using Principal Components Analysis (PCA)...
- Gene therapy in the corneaRAJIV MOHAN; Fiscal Year: 2007..can be used to develop animal models for studying the specific function of disease-causing genes such as TGFp and BIGH3 in the adult cornea in vivo without altering their expression in vital organs...
- Gene therapy in the corneaRAJIV MOHAN; Fiscal Year: 2007..be used to develop animal models for studying the specific function of disease-causing genes such as TGF¿ and BIGH3 in the adult cornea in vivo without altering their expression in vital organs...
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2007..can be documented in plasma by low APH 50 values, low Cs levels, and the appearance of the Cs degradation product Csd. Renal transplantation is associated with disease recurrence in virtually all allografts and a high percentage of ..
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2009..can be documented in plasma by low APH 50 values, low Cs levels, and the appearance of the Cs degradation product Csd. Renal transplantation is associated with disease recurrence in virtually all allografts and a high percentage of ..
- Gene therapy in the corneaRAJIV RAVINDRA MOHAN; Fiscal Year: 2010..can be used to develop animal models for studying the specific function of disease-causing genes such as TGF and BIGH3 in the adult cornea in vivo without altering their expression in vital organs...
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard J Smith; Fiscal Year: 2010..can be documented in plasma by low APH 50 values, low Cs levels, and the appearance of the Cs degradation product Csd. Renal transplantation is associated with disease recurrence in virtually all allografts and a high percentage of ..
- Gene therapy in the corneaRAJIV MOHAN; Fiscal Year: 2009..can be used to develop animal models for studying the specific function of disease-causing genes such as TGF and BIGH3 in the adult cornea in vivo without altering their expression in vital organs...
