Research Topics
| G K KlintworthSummaryAffiliation: Duke University Medical Center Country: USA Publications
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Detail Information
Publications
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic reviewGordon K Klintworth
Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 12:159-76. 2006..To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD)...- Advances in the molecular genetics of corneal dystrophiesG K Klintworth
Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Ophthalmol 128:747-54. 1999..To improve our understanding of the role of specific genes on corneal transparency through a review of linkage to specific chromosomal loci and the identification of the mutant genes dealing with the corneal dystrophies... - Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin geneG K Klintworth
Department of Pathology, Duke University, Durham, NC 27710, USA
Mol Vis 4:31. 1998..Due to contradictory published information we also mapped the hLF gene... 
Accumulation of beta ig-h3 gene product in corneas with granular dystrophyG K Klintworth
Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Pathol 152:743-8. 1998....- Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotypeG K Klintworth
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
Am J Ophthalmol 124:9-18. 1997..To determine the immunophenotype or immunophenotypes of macular corneal dystrophy in Saudi Arabia... - Corneal dystrophiesGordon K Klintworth
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
Orphanet J Rare Dis 4:7. 2009..Other less debilitating or asymptomatic dystrophies do not warrant treatment. The prognosis varies from minimal effect on the vision to corneal blindness, with marked phenotypic variability... - The molecular genetics of the corneal dystrophies--current statusGordon K Klintworth
Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
Front Biosci 8:d687-713. 2003.... - 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... - Proteoglycans contain a 4.6 A repeat in muscular dystrophy corneas: x-ray diffraction evidenceA J Quantock
Anheuser Busch Eye Institute, Department of Ophthalmology, St Louis University School of Medicine, Missouri 63104, USA
Biophys J 70:1966-72. 1996..6 A MCD ultrastructures reside in either intact, unsulfated lumican molecules and regions of the CS/DS-containing molecules or in a region of a hybrid macromolecular aggregate formed by the interaction of the two molecules... - Partial amino acid sequence determination of bovine corneal protein 54 K (BCP 54)D L Cooper
Department of Pathology, Duke University Medical Center, Durham, NC
Curr Eye Res 9:781-6. 1990.... - Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in IcelandN P Liu
Department of Ophthalmology and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 6:261-4. 2000..Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I... - Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genesN P Liu
Department of Ophthalmology and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 6:95-100. 2000..The purpose of this study was to construct a genomic contig spanning the MCD region and to narrow the MCD critical interval by haplotype analysis. The TAT and LCAT genes were mapped to determine if they might be the MCD gene... - Proteoglycans contain a 4.6-A repeat in corneas with macular dystrophy: II. Histochemical evidenceA J Quantock
Anheuser Busch Eye Institute, Department of Ophthalmology, St Louis University School of Medicine, Missouri, USA
Cornea 16:322-6. 1997..6-A x-ray reflection was found to be significantly diminished after incubation of MCD specimens in buffer containing chondroitinase ABC or N-glycanase. We examined the sulfated proteoglycans in these glycosidase-digested MCD corneas... - 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... - Gliomas of the optic nerve: histological, immunohistochemical (MIB-1 and p53), and MRI analysisT J Cummings
Duke University Medical Center, Department of Pathology, Durham, NC 27710, USA
Acta Neuropathol 99:563-70. 2000.... - Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experienceNatalie A Afshari
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Arch Ophthalmol 124:777-80. 2006..To review 30 years' clinical experience with Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty (PK)... 
Morphologic features of 115 lymphomas of the orbit and ocular adnexa categorized according to the World Health Organization classification: are marginal zone lymphomas in the orbit mucosa-associated lymphoid tissue-type lymphomas?Anand S Lagoo
Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
Arch Pathol Lab Med 132:1405-16. 2008..Marginal zone lymphomas (MZLs) are the most common lymphomas encountered in the orbit and ocular adnexa. The accurate categorization of these lymphomas is critical to avoid undertreatment or overtreatment...- Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI geneNatalie A Afshari
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27705, USA
Mol Vis 14:495-9. 2008..To evaluate the TGFBI gene and the encoded transforming growth factor beta-induced protein (TGFBIp) in a 47-year-old African-American patient with an unusual atypical asymmetric lattice corneal dystrophy (LCD)... - Linkage of a gene for macular corneal dystrophy to chromosome 16J M Vance
Department of Medicine, Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710 2900, USA
Am J Hum Genet 58:757-62. 1996..50 at a recombination fraction of .00 was obtained for the MCD type II families, by use of the identical marker. These findings raise the possibility that MCD type II may be due to the same genetic locus that is involved in MCD type I... - Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibshipNing pu Liu
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Am J Ophthalmol 139:1118-20. 2005..The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II... - Non-invasive observation of repeated adenoviral GFP gene delivery to the anterior segment of the monkey eye in vivoT Borras
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
J Gene Med 3:437-49. 2001..Adenoviral vectors are capable of transducing the TM in several rodent species. Because of the relevance of the non-human primate model in the study of glaucoma, gene transfer to the eyes of cynomolgus monkeys was investigated... - In vivo measurement of corneal angiogenesis with video data acquisition and computerized image analysisT J Conrad
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina
Lab Invest 70:426-34. 1994..Because accurate methods to record the entire pattern of corneal neovascularization over time in individual living animals do not exist, we have developed a noninvasive method to achieve this goal... - Bovine corneal protein 54K (BCP54) is a homologue of the tumor-associated (class 3) rat aldehyde dehydrogenase (RATALD)D L Cooper
Department of Pathology, Duke University, Durham, NC 27710
Gene 98:201-7. 1991..Included in the discussion is the likelihood that gene sharing (genes encoding metabolic enzymes and other stable proteins) may extend to the cornea... - A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosisR R Allingham
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 68:491-4. 2001..This suggests the presence of a duplication segregating with the disease phenotype that is most likely involved in its causation... - Localized conjunctival argyrosis: a late sequela of strabismus surgeryD E Holck
Department of Ophthalmology, Wilford Hall Medical Center, San Antonio, TX 78236 5300, USA
Ophthalmic Surg Lasers 31:495-8. 2000..The patient had strabismus surgery probably using a silver clip. Argyrosis should be considered in the differential diagnosis of focal pigmented conjunctival lesions... - The IC3D classification of the corneal dystrophiesJayne S Weiss
Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
Cornea 27:S1-83. 2008..Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis... - Trends in the indications for penetrating keratoplasty, 1980-2001Paul C Kang
Duke University Eye Center, Durham, North Carolina 27710, USA
Cornea 24:801-3. 2005..Unlike many other studies, Fuchs dystrophy was a common indication for PK... - Evidence against a blood derived origin for transforming growth factor beta induced protein in corneal disorders caused by mutations in the TGFBI geneHenrik Karring
Center for Insoluble Protein Structures, Department of Molecular Biology, Science Park, University of Aarhus, Aarhus C, Denmark
Mol Vis 13:997-1004. 2007..Therefore, we investigated the specificity of the originally utilized anti-p68(beta ig-h3) antiserum and re-evaluated the amount of TGFBIp in human plasma by immunoblotting using a new specific antiserum... - 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. 2008..To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies... - Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in IcelandNing pu Liu
Beijing Tongren Eye Center, Capital University of Medical Sciences, Beijing, China
Mol Vis 12:1148-52. 2006..To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland... - Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI geneTasha Y Tanhehco
Arch Ophthalmol 124:589-93. 2006 - Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophyZhaoxia Ren
National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
Hum Genet 110:568-77. 2002..No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. These findings demonstrate allelic and locus heterogeneity for GDLD... - Unusual superficial variant of granular corneal dystrophy with amyloid depositionBenjamin Mathew
University of Ottawa Eye Institute, 501 Smyth Rd, Room 3818, Ottawa, Ontario, Canada K1H 8L6
Arch Ophthalmol 121:269-71. 2003 - Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bücklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gelsChris J Hedegaard
Cornea Proteomics Center, Department of Molecular Biology, University of Aarhus, Aarhus, Denmark
Mol Vis 9:355-9. 2003..However, the amount of the 63 kDa TGFBIp was 77 fold higher in the GCDIII affected cornea. Furthermore, the GCDIII affected cornea contained abundant 40 kDa fragments that were trunctated in both the amino and carboxy termini... - 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. 2004..To 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)... - TGFBI gene mutations in corneal dystrophiesChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India
Hum Mutat 27:615-25. 2006..Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp... - Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in IndiaAfia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, Professor Brien Holden Eye Research Centre, Hyderabad 500 034, India
Mol Vis 9:730-4. 2003..We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations... - Genetic disorders of the cornea: from research to practical diagnostic testingGordon K Klintworth
Clin Experiment Ophthalmol 33:231-2. 2005 - Proteomic analysis of the soluble fraction from human corneal fibroblasts with reference to ocular transparencyHenrik Karring
Department of Ophthalmology, Aarhus University Hospital, , 8000 Aarhus C, Denmark
Mol Cell Proteomics 3:660-74. 2004..Proteins protecting against oxidative stress and protein misfolding were prominent, suggesting that these processes may participate in the generation of cytoplasmic light-scattering from corneal fibroblasts... - Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneasRolf B Andersen
Department of Molecular Biology, University of Aarhus, Gustav Wieds Vej 10C, DK 8000 Aarhus C, Denmark
Biochemistry 43:16374-84. 2004..Approximately 60% of TGFBIp was covalently associated with insoluble components of the extracellular matrix in both human and porcine corneas through a disulfide bridge... - The human cornea proteome: bioinformatic analyses indicate import of plasma proteins into the corneaHenrik Karring
Center for Insoluble Protein Structures inSPIN, Department of Molecular Biology, University of Arhus, Arhus, Denmark
Mol Vis 12:451-60. 2006..This observation strongly indicates that these abundant corneal proteins are not expressed in the cornea but originate from the surrounding pericorneal tissue... - A dataset of human cornea proteins identified by Peptide mass fingerprinting and tandem mass spectrometryHenrik Karring
Center for Insoluble Protein Structure (inSPIN, Department of Molecular Biology, Science Park, University of Aarhus, and the Department of Ophthalmology, Aarhus University Hospital, , 8000 Aarhus C, Denmark
Mol Cell Proteomics 4:1406-8. 2005..This proteome study of the healthy human cornea provides a basis for further analysis of corneal diseases and the design of bioengineered corneas... - Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junctionFridbert Jonasson
Department of Ophthalmology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
Acta Ophthalmol Scand 85:862-7. 2007..To locate the mildest and/or earliest changes in the retina and/or choroid in Sveinsson chorioretinal atrophy (SCRA), using more advanced techniques than previous studies...