Thomas C Hart
Affiliation: University of Pittsburgh
- A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1Thomas 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...
- Genetics in dental practice: social and ethical issues surrounding genetic testingElizabeth 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...
- Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfectaP 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....
- Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyT 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...
- Genetic testing considerations for oral medicineThomas 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...
- Using biometrics for participant identification in a research study: a case reportPatricia 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...
- Effect of the interleukin-1 genotype on outcomes of regenerative periodontal therapy with bone replacement graftsOren 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...
- Genetic factors associated with gout and hyperuricemiaAnthony 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....
- Clinico-pathologic findings in medullary cystic kidney disease type 2Anthony J Bleyer
Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, NC, USA
Pediatr Nephrol 20:824-7. 2005....
- Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosisShyh 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...
- Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfectaMohamad 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...
- Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) geneAnthony 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...
- A critical assessment of interleukin-1 (IL-1) genotyping when used in a genetic susceptibility test for severe chronic periodontitisGary Greenstein
University of Medicine and Dentistry of New Jersey, Newark, USA
J Periodontol 73:231-47. 2002....
- Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) geneAnthony 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...
- Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin CMohamad 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...
- Clinical utility of a genetic susceptibility test for severe chronic periodontitis: a critical evaluationGary 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....
- Genetics and its implications for clinical dental practice and education: report of panel 3 of the Macy studyLynn Johnson
J Dent Educ 72:86-94. 2008
- Heritability estimates for dental caries and sucrose sweetness preferenceWalter 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...
- Craniofacial and dental phenotype of Smith-Magenis syndromeNatalia 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...
- Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily 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...
- Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrateSung 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...
- The genetic basis of periodontitisDenis F Kinane
University of Louisville School of Dentistry, Louisville, Kentucky, USA
Periodontol 2000 39:91-117. 2005
- Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfectaDarren 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...
- Proteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteasesOk Hee Ryu
Human Craniofacial Genetics Section, NIDCR, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 280:17415-21. 2005....
- 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
- A specific requirement for PDGF-C in palate formation and PDGFR-alpha signalingHao 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...
- Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall proteinAnthony 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...
- Status of genetics education in U.S. dental schoolsLaura 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...
- Hereditary gingival fibromatosis associated with generalized aggressive periodontitis: a case reportPiero 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...
- Polycystic kidney diseaseAnthony J Bleyer
N Engl J Med 350:2622; author reply 2622. 2004
- Phenotype and course of Hutchinson-Gilford progeria syndromeMelissa 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....