G K Klintworth

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review
    Gordon K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 12:159-76. 2006
  2. ncbi request reprint Advances in the molecular genetics of corneal dystrophies
    G K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Ophthalmol 128:747-54. 1999
  3. ncbi request reprint Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene
    G K Klintworth
    Department of Pathology, Duke University, Durham, NC 27710, USA
    Mol Vis 4:31. 1998
  4. pmc Accumulation of beta ig-h3 gene product in corneas with granular dystrophy
    G K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Pathol 152:743-8. 1998
  5. ncbi request reprint Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype
    G K Klintworth
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
    Am J Ophthalmol 124:9-18. 1997
  6. pmc Corneal dystrophies
    Gordon K Klintworth
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
    Orphanet J Rare Dis 4:7. 2009
  7. ncbi request reprint The molecular genetics of the corneal dystrophies--current status
    Gordon K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Front Biosci 8:d687-713. 2003
  8. ncbi request reprint Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
    Gordon K Klintworth
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Invest Ophthalmol Vis Sci 45:1382-8. 2004
  9. pmc Proteoglycans contain a 4.6 A repeat in muscular dystrophy corneas: x-ray diffraction evidence
    A J Quantock
    Anheuser Busch Eye Institute, Department of Ophthalmology, St Louis University School of Medicine, Missouri 63104, USA
    Biophys J 70:1966-72. 1996
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications43

  1. ncbi request reprint CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review
    Gordon 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)...
  2. ncbi request reprint Advances in the molecular genetics of corneal dystrophies
    G 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...
  3. ncbi request reprint Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene
    G 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...
  4. pmc Accumulation of beta ig-h3 gene product in corneas with granular dystrophy
    G K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Pathol 152:743-8. 1998
    ....
  5. ncbi request reprint Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype
    G 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...
  6. pmc Corneal dystrophies
    Gordon 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...
  7. ncbi request reprint The molecular genetics of the corneal dystrophies--current status
    Gordon K Klintworth
    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Front Biosci 8:d687-713. 2003
    ....
  8. ncbi request reprint Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
    Gordon 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...
  9. pmc Proteoglycans contain a 4.6 A repeat in muscular dystrophy corneas: x-ray diffraction evidence
    A 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...
  10. ncbi request reprint 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
    ....
  11. ncbi request reprint Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland
    N 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...
  12. ncbi request reprint Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes
    N 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...
  13. ncbi request reprint Proteoglycans contain a 4.6-A repeat in corneas with macular dystrophy: II. Histochemical evidence
    A 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...
  14. ncbi request reprint Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene
    David 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...
  15. ncbi request reprint Gliomas of the optic nerve: histological, immunohistochemical (MIB-1 and p53), and MRI analysis
    T J Cummings
    Duke University Medical Center, Department of Pathology, Durham, NC 27710, USA
    Acta Neuropathol 99:563-70. 2000
    ....
  16. ncbi request reprint Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience
    Natalie 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)...
  17. doi request reprint 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...
  18. pmc Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene
    Natalie 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)...
  19. pmc Linkage of a gene for macular corneal dystrophy to chromosome 16
    J 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...
  20. ncbi request reprint Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship
    Ning 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...
  21. ncbi request reprint Non-invasive observation of repeated adenoviral GFP gene delivery to the anterior segment of the monkey eye in vivo
    T 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...
  22. ncbi request reprint In vivo measurement of corneal angiogenesis with video data acquisition and computerized image analysis
    T 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...
  23. ncbi request reprint 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...
  24. pmc A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis
    R 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...
  25. ncbi request reprint Localized conjunctival argyrosis: a late sequela of strabismus surgery
    D 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...
  26. pmc The IC3D classification of the corneal dystrophies
    Jayne 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...
  27. ncbi request reprint Trends in the indications for penetrating keratoplasty, 1980-2001
    Paul C Kang
    Duke University Eye Center, Durham, North Carolina 27710, USA
    Cornea 24:801-3. 2005
    ..To study the leading indications and changing trends for penetrating keratoplasty (PK) over the past 3 decades...
  28. pmc Evidence against a blood derived origin for transforming growth factor beta induced protein in corneal disorders caused by mutations in the TGFBI gene
    Henrik 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...
  29. doi request reprint Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families
    Petra 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...
  30. ncbi request reprint Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland
    Ning 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...
  31. ncbi request reprint Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene
    Tasha Y Tanhehco
    Arch Ophthalmol 124:589-93. 2006
  32. ncbi request reprint Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy
    Zhaoxia 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...
  33. ncbi request reprint Unusual superficial variant of granular corneal dystrophy with amyloid deposition
    Benjamin Mathew
    University of Ottawa Eye Institute, 501 Smyth Rd, Room 3818, Ottawa, Ontario, Canada K1H 8L6
    Arch Ophthalmol 121:269-71. 2003
  34. ncbi request reprint 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 gels
    Chris J Hedegaard
    Cornea Proteomics Center, Department of Molecular Biology, University of Aarhus, Aarhus, Denmark
    Mol Vis 9:355-9. 2003
    ..To investigate the accumulation of TGFBIp in GCDIII and to demonstrate the ability to perform mass spectrometry on old two-dimensional protein gels...
  35. ncbi request reprint Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
    Anthony 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)...
  36. ncbi request reprint TGFBI gene mutations in corneal dystrophies
    Chitra 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...
  37. ncbi request reprint Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
    Afia 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...
  38. ncbi request reprint Genetic disorders of the cornea: from research to practical diagnostic testing
    Gordon K Klintworth
    Clin Experiment Ophthalmol 33:231-2. 2005
  39. ncbi request reprint Proteomic analysis of the soluble fraction from human corneal fibroblasts with reference to ocular transparency
    Henrik Karring
    Department of Ophthalmology, Aarhus University Hospital, Nørrebrogade 44, 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...
  40. ncbi request reprint Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas
    Rolf 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...
  41. ncbi request reprint The human cornea proteome: bioinformatic analyses indicate import of plasma proteins into the cornea
    Henrik 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...
  42. ncbi request reprint A dataset of human cornea proteins identified by Peptide mass fingerprinting and tandem mass spectrometry
    Henrik Karring
    Center for Insoluble Protein Structure inSPIN, Department of Molecular Biology, Science Park, University of Aarhus, and the Department of Ophthalmology, Aarhus University Hospital, Nørrebrogade 44, 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...
  43. ncbi request reprint Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction
    Fridbert 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...