Thomas C Hart

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. pmc A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
    Thomas C Hart
    Center for Craniofacial and Dental Genetics, Division of Oral Biology and Pathology, University of Pittsburgh School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Hum Genet 70:943-54. 2002
  2. ncbi request reprint Genetics in dental practice: social and ethical issues surrounding genetic testing
    Elizabeth Gettig
    Genetics Counseling Program, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, A 300 Crabtree, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    J Dent Educ 67:549-62. 2003
  3. ncbi request reprint Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta
    P Suzanne Hart
    Department of Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh PA 15261, USA
    Eur J Oral Sci 111:326-31. 2003
  4. pmc Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    T C Hart
    University of Pittsburgh, School of Dental Medicine, Division of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Med Genet 39:882-92. 2002
  5. ncbi request reprint Genetic testing considerations for oral medicine
    Thomas C Hart
    Department of Oral Biology and Medicine, University of Pittsburgh, School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15090, USA
    J Dent Educ 66:1185-202. 2002
  6. pmc Using biometrics for participant identification in a research study: a case report
    Patricia M Corby
    Division of Pediatric and Developmental Dental Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    J Am Med Inform Assoc 13:233-5. 2006
  7. ncbi request reprint Effect of the interleukin-1 genotype on outcomes of regenerative periodontal therapy with bone replacement grafts
    Oren I Weiss
    Division of Periodontics, Eastman Department of Dentistry, University of Rochester Eastman Dental Center, Rochester, NY 14620, USA
    J Periodontol 75:1335-42. 2004
  8. ncbi request reprint Genetic factors associated with gout and hyperuricemia
    Anthony J Bleyer
    Department of Internal Medicine, Section on Nephrology, The Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Adv Chronic Kidney Dis 13:124-30. 2006
  9. ncbi request reprint Clinico-pathologic findings in medullary cystic kidney disease type 2
    Anthony J Bleyer
    Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Pediatr Nephrol 20:824-7. 2005
  10. ncbi request reprint Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis
    Shyh Ing Jang
    Section of Human and Craniofacial Genetics, National Institute of Dental and Craniofacial Research, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    J Biol Chem 282:20245-55. 2007

Collaborators

Detail Information

Publications31

  1. pmc A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
    Thomas C Hart
    Center for Craniofacial and Dental Genetics, Division of Oral Biology and Pathology, University of Pittsburgh School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Hum Genet 70:943-54. 2002
    ..Clarification of the functional role of this SOS1 mutant has implications for understanding other forms of gingival fibromatosis and corrective gingival-tissue management...
  2. ncbi request reprint Genetics in dental practice: social and ethical issues surrounding genetic testing
    Elizabeth Gettig
    Genetics Counseling Program, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, A 300 Crabtree, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    J Dent Educ 67:549-62. 2003
    ..Specific areas addressed include genetic testing, confidentiality, discrimination, informed consent, risk communication, and professional education...
  3. ncbi request reprint Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta
    P Suzanne Hart
    Department of Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh PA 15261, USA
    Eur J Oral Sci 111:326-31. 2003
    ....
  4. pmc Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    T C Hart
    University of Pittsburgh, School of Dental Medicine, Division of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Med Genet 39:882-92. 2002
    ..Genetic linkage studies have localised genes for both conditions to overlapping regions of chromosome 16p11-p13. These clinical and genetic findings suggest that these conditions may be allelic...
  5. ncbi request reprint Genetic testing considerations for oral medicine
    Thomas C Hart
    Department of Oral Biology and Medicine, University of Pittsburgh, School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15090, USA
    J Dent Educ 66:1185-202. 2002
    ..This paper overviews many of the important issues that need to be considered in the application of genetic testing to oral medicine...
  6. pmc Using biometrics for participant identification in a research study: a case report
    Patricia M Corby
    Division of Pediatric and Developmental Dental Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    J Am Med Inform Assoc 13:233-5. 2006
    ..This case report provides insights that may serve as useful hints for those responsible for planning system implementation that involves participants' authentication that would require a more secure form of identification...
  7. ncbi request reprint Effect of the interleukin-1 genotype on outcomes of regenerative periodontal therapy with bone replacement grafts
    Oren I Weiss
    Division of Periodontics, Eastman Department of Dentistry, University of Rochester Eastman Dental Center, Rochester, NY 14620, USA
    J Periodontol 75:1335-42. 2004
    ..The purpose of this study was to evaluate the effect of the IL-1 genotype on the outcomes of periodontal surgical regenerative treatment with bone replacement grafts...
  8. ncbi request reprint Genetic factors associated with gout and hyperuricemia
    Anthony J Bleyer
    Department of Internal Medicine, Section on Nephrology, The Wake Forest University School of Medicine, Winston Salem, NC 27157 1053, USA
    Adv Chronic Kidney Dis 13:124-30. 2006
    ....
  9. ncbi request reprint Clinico-pathologic findings in medullary cystic kidney disease type 2
    Anthony J Bleyer
    Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Pediatr Nephrol 20:824-7. 2005
    ....
  10. ncbi request reprint Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis
    Shyh Ing Jang
    Section of Human and Craniofacial Genetics, National Institute of Dental and Craniofacial Research, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    J Biol Chem 282:20245-55. 2007
    ..These findings elucidate the mechanisms for gingival overgrowth mediated by SOS1 gene mutation in humans...
  11. ncbi request reprint Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta
    Mohamad Nusier
    Department of Biochemistry and Molecular Biology, Jordan University of Science and Technology, School of Medicine, Irbid, Jordan
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:220-30. 2004
    ..The purpose of this study was to characterize the phenotype in 9 families with autosomal recessive amelogenesis imperfecta (ARAI), and to propose a classification system allowing inclusion and delineation of diverse ARAI phenotypes...
  12. ncbi request reprint Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene
    Anthony J Bleyer
    Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Kidney Int 64:36-42. 2003
    ..The purpose of this investigation is to provide a comprehensive characterization of the clinical findings of this syndrome in family members who had a mutation in the uromodulin gene...
  13. ncbi request reprint A critical assessment of interleukin-1 (IL-1) genotyping when used in a genetic susceptibility test for severe chronic periodontitis
    Gary Greenstein
    University of Medicine and Dentistry of New Jersey, Newark, USA
    J Periodontol 73:231-47. 2002
    ....
  14. ncbi request reprint Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene
    Anthony J Bleyer
    Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Am J Kidney Dis 42:E20-6. 2003
    ..This case report describes another family with similar clinical manifestations...
  15. ncbi request reprint Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C
    Mohamad Nusier
    Department of Biochemistry and Molecular Biology, Jordan University of Science and Technology, Irbid, Jordan
    Mol Genet Metab 75:280-3. 2002
    ..Sequencing of the mutant transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon...
  16. ncbi request reprint Clinical utility of a genetic susceptibility test for severe chronic periodontitis: a critical evaluation
    Gary Greenstein
    Department of Periodontology, University of Medicine and Dentistry of New Jersey, Newark, USA
    J Am Dent Assoc 133:452-9; quiz 492-3. 2002
    ....
  17. ncbi request reprint Genetics and its implications for clinical dental practice and education: report of panel 3 of the Macy study
    Lynn Johnson
    J Dent Educ 72:86-94. 2008
  18. ncbi request reprint Heritability estimates for dental caries and sucrose sweetness preference
    Walter A Bretz
    College of Dentistry, New York University, 345 East 24th St, New York, NY 10010, USA
    Arch Oral Biol 51:1156-60. 2006
    ..The aim of this study was to determine heritability estimates for dental caries traits and sucrose sweetness preference...
  19. ncbi request reprint Craniofacial and dental phenotype of Smith-Magenis syndrome
    Natalia Tomona
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892 1432, USA
    Am J Med Genet A 140:2556-61. 2006
    ..The high prevalence of dental anomalies (>90%) further expands the phenotype and indicates that dental evaluation may aid in the diagnosis of SMS...
  20. ncbi request reprint Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature
    Emily S Doherty
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 143:3204-15. 2007
    ..01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling...
  21. ncbi request reprint Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate
    Sung Won Choi
    NIH NIDCR, 10 Center Drive, Building 10, room 5 2531, Bethesda, MD 20892 1432, USA
    J Am Soc Nephrol 16:3006-14. 2005
    ..Colchicine and sodium 4-phenylbutyrate reverse these processes and could potentially be beneficial in ameliorating the progressive renal damage in uromodulin-associated kidney diseases...
  22. ncbi request reprint The genetic basis of periodontitis
    Denis F Kinane
    University of Louisville School of Dentistry, Louisville, Kentucky, USA
    Periodontol 2000 39:91-117. 2005
  23. ncbi request reprint Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta
    Darren B Ravassipour
    Department of Orthodontics, School of Dentistry, University of North Carolina Chapel Hill, Chapel Hill, NC, USA
    Arch Oral Biol 50:611-23. 2005
    ..The pathophysiological relationship between AI associated enamel defects and open bite malocclusion remains unknown...
  24. ncbi request reprint Proteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteases
    Ok Hee Ryu
    Human Craniofacial Genetics Section, NIDCR, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 280:17415-21. 2005
    ....
  25. ncbi request reprint Oral health research at the crossroads: translate we must!
    Thomas C Hart
    National Institute of Dental and Craniofacial Research NIH, 31 Center Drive, Bethesda, MD 20892, USA
    J Endod 30:684-8. 2004
  26. ncbi request reprint A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling
    Hao Ding
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
    Nat Genet 36:1111-6. 2004
    ..Our results also show that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated...
  27. ncbi request reprint Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein
    Anthony J Bleyer
    Section on Nephrology, Wake Forest University School of Medicine Medical Center, Winston Salem, North Carolina 27157, USA
    Kidney Int 66:974-7. 2004
    ..We have now investigated effects of UMOD gene mutations on protein expression by quantitatively measuring THP excretion...
  28. ncbi request reprint Status of genetics education in U.S. dental schools
    Laura L Dudlicek
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Building 10, Room 1N 117, 10 Center Drive, Bethesda, MD 20892 1191, USA
    J Dent Educ 68:809-18. 2004
    ..These findings suggest more emphasis on genetics education is needed in U.S. dental schools...
  29. ncbi request reprint Hereditary gingival fibromatosis associated with generalized aggressive periodontitis: a case report
    Piero Casavecchia
    Department of Periodontology and Oral Biology, Boston University, Goldman School of Dental Medicine, Boston, MA 02118, USA
    J Periodontol 75:770-8. 2004
    ..A syndromic association between gingival fibromatosis and a wide variety of other genetically inherited disorders has been described. However, its coexistence with aggressive periodontitis has not been reported...
  30. ncbi request reprint Polycystic kidney disease
    Anthony J Bleyer
    N Engl J Med 350:2622; author reply 2622. 2004
  31. pmc Phenotype and course of Hutchinson-Gilford progeria syndrome
    Melissa A Merideth
    National Human Genome Research Institute, Intramural Office of Rare Disease, National Institutes of Health, Bethesda, MD 20892 1851, USA
    N Engl J Med 358:592-604. 2008
    ....