Yaron Tomer

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. doi request reprint Mechanisms of autoimmune thyroid diseases: from genetics to epigenetics
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, NY 10029 email
    Annu Rev Pathol 9:147-56. 2014
  2. pmc Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes
    Yaron Tomer
    Department of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 98:E144-52. 2013
  3. pmc Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 73:736-47. 2003
  4. ncbi request reprint Ultrasonographic localization and marking of a small recurrent thyroid papillary carcinoma
    I Priven
    Department of Endocrinology, The Mount Sinai Medical Center, New York, New York 10029, USA
    Thyroid 13:663. 2003
  5. ncbi request reprint Genetic dissection of familial autoimmune thyroid diseases using whole genome screening
    Yaron Tomer
    Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Box 1055, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Autoimmun Rev 1:198-204. 2002
  6. ncbi request reprint A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York, USA
    Thyroid 12:1129-35. 2002
  7. pmc Genetic susceptibility to autoimmune thyroid disease: past, present, and future
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, New York 10029, USA
    Thyroid 20:715-25. 2010
  8. ncbi request reprint The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Trends Mol Med 10:306-8. 2004
  9. pmc Hepatitis C and interferon induced thyroiditis
    Yaron Tomer
    Department of Medicine, Division of Endocrinology, Box 1118, Mount Sinai Medical Center, One Gustave L Levy Place, New York, NY 10029, USA
    J Autoimmun 34:J322-6. 2010
  10. ncbi request reprint Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Endocr Rev 24:694-717. 2003

Collaborators

Detail Information

Publications81

  1. doi request reprint Mechanisms of autoimmune thyroid diseases: from genetics to epigenetics
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, NY 10029 email
    Annu Rev Pathol 9:147-56. 2014
    ..Dissecting the genetic-epigenetic interactions underlying the pathogenesis of AITD is essential to uncover new therapeutic targets. ..
  2. pmc Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes
    Yaron Tomer
    Department of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 98:E144-52. 2013
    ..We have previously identified three loci on chromosomes 10q, 12q, and 14q that showed strong linkage with AITD, HT, and GD, respectively...
  3. pmc Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 73:736-47. 2003
    ..The loci that continue to show evidence for linkage in the expanded data set represent serious candidate regions for gene identification...
  4. ncbi request reprint Ultrasonographic localization and marking of a small recurrent thyroid papillary carcinoma
    I Priven
    Department of Endocrinology, The Mount Sinai Medical Center, New York, New York 10029, USA
    Thyroid 13:663. 2003
  5. ncbi request reprint Genetic dissection of familial autoimmune thyroid diseases using whole genome screening
    Yaron Tomer
    Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Box 1055, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Autoimmun Rev 1:198-204. 2002
    ..g. HLA, CTLA-4) while others may be thyroid-specific (e.g. thyroglobulin). These genes probably act in concert to increase the autoimmune reactions in susceptible individuals and direct them towards the thyroid...
  6. ncbi request reprint A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York, USA
    Thyroid 12:1129-35. 2002
    ..02). In conclusion, our results suggested that the CD40 gene was a new susceptibility gene for GD within certain families because it was both linked and associated with GD...
  7. pmc Genetic susceptibility to autoimmune thyroid disease: past, present, and future
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, New York 10029, USA
    Thyroid 20:715-25. 2010
    ..In this review we summarize the new findings on the genetic susceptibility to AITD focusing on emerging mechanisms of susceptibility...
  8. ncbi request reprint The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease
    Yaron Tomer
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Trends Mol Med 10:306-8. 2004
    ..If Tg is confirmed as a susceptibility gene for AITD, it could provide a novel therapeutic target...
  9. pmc Hepatitis C and interferon induced thyroiditis
    Yaron Tomer
    Department of Medicine, Division of Endocrinology, Box 1118, Mount Sinai Medical Center, One Gustave L Levy Place, New York, NY 10029, USA
    J Autoimmun 34:J322-6. 2010
    ..While the epidemiology and clinical presentation of HCV and interferon induced thyroiditis have been well characterized, the mechanisms causing these conditions are still poorly understood...
  10. ncbi request reprint Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function
    Yaron Tomer
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Endocr Rev 24:694-717. 2003
    ..It is hoped that in the near future additional AITD susceptibility genes will be identified and the mechanisms by which they induce AITD will be unraveled...
  11. ncbi request reprint CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production
    Y Tomer
    Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 86:1687-93. 2001
    ....
  12. pmc Interferon induced thyroiditis
    Yaron Tomer
    Department of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, Box 1118, One Gustave L Levy Place, New York, NY 10029, USA
    Best Pract Res Clin Endocrinol Metab 23:703-12. 2009
    ..Early detection and therapy of this condition are important in order to avoid complications of thyroid disease such as cardiac arrhythmias...
  13. ncbi request reprint Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions
    Y Tomer
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 84:4656-64. 1999
    ..One of them (GD-2) was fine-mapped to a 1-cM interval...
  14. pmc Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes
    Brian Golden
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 90:4904-11. 2005
    ..Epidemiological data suggest a common genetic susceptibility to type 1 diabetes (T1D) and autoimmune thyroid disease (AITD)...
  15. pmc Influence of the TSH receptor gene on susceptibility to Graves' disease and Graves' ophthalmopathy
    Xiaoming Yin
    Thyroid Research Unit, Mount Sinai School of Medicine, James J Peters VA Medical Center, New York, New York, USA
    Thyroid 18:1201-6. 2008
    ....
  16. pmc Tg.2098 is a major human thyroglobulin T-cell epitope
    Francesca Menconi
    Department of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, New York, NY, USA
    J Autoimmun 35:45-51. 2010
    ..Taken together these findings suggest that Tg.2098, a strong and specific binder to the disease-associated HLA-DRbeta-Arg74, is a major human T-cell epitope and participant in the pathoetiology of AITD...
  17. ncbi request reprint Dissecting genetic heterogeneity in autoimmune thyroid diseases by subset analysis
    Yaron Tomer
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    J Autoimmun 29:69-77. 2007
    ..In view of the significant genetic heterogeneity observed in AITD, analyzing subsets is an efficient way to resolve heterogeneity and identify novel genes...
  18. ncbi request reprint Analysis of immune regulatory genes in familial and sporadic Graves' disease
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Box 1055, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    J Clin Endocrinol Metab 89:4562-8. 2004
    ..However, HLA-DR3 and CTLA-4 did not have a stronger effect in the familial GD patients, suggesting that additional genes must contribute to the aggregation of GD within families...
  19. pmc Genetically driven target tissue overexpression of CD40: a novel mechanism in autoimmune disease
    Amanda K Huber
    Division of Endocrinology, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Immunol 189:3043-53. 2012
    ..We conclude that target tissue overexpression of CD40 plays a key role in the etiology of organ-specific autoimmune disease...
  20. pmc Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 100:15119-24. 2003
    ..A combination of at least two Tg SNPs conferred susceptibility to human AITD. Moreover, the exon 33 SNP showed evidence for interaction with HLA-DR3 in conferring susceptibility to Graves' disease...
  21. pmc Shared molecular amino acid signature in the HLA-DR peptide binding pocket predisposes to both autoimmune diabetes and thyroiditis
    Francesca Menconi
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 107:16899-903. 2010
    ..Moreover, Arg-74 is a major amino acid position for the development of several autoimmune diseases. These findings suggest that blocking the critical Arg-74 pocket might offer a method for treating certain autoimmune conditions...
  22. pmc Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families
    Maria Justina B Villano
    Department of Internal Medicine, Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
    J Clin Endocrinol Metab 94:1458-66. 2009
    ..Both diseases frequently occur within the same family and in the same individual. Patients developing both T1D and AITD are considered to have an autoimmune polyglandular syndrome type 3 variant (APS3v)...
  23. ncbi request reprint CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency
    Adina Kay Knight
    Mount Sinai School of Medicine, Department of Clinical Immunology, 1425 Madison Avenue, New York, NY 10029, USA
    J Clin Immunol 27:95-100. 2007
    ..There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population...
  24. pmc Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism
    Mihaela Stefan
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, New York 10029, USA
    J Biol Chem 286:31168-79. 2011
    ..These results reveal a new mechanism of interaction between environmental (IFNα) and genetic (TG) factors to trigger AITD...
  25. ncbi request reprint Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases
    Yaron Tomer
    Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 87:404-7. 2002
    ..Transmission disequilibrium test (TDT) analysis also showed an association of Tgms2 with AITD (p = 0.02). We concluded therefore that the Tg gene was a major AITD susceptibility gene because it was both linked and associated with AITD...
  26. ncbi request reprint A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine New York, New York, USA
    Thyroid 12:1079-83. 2002
    ..03, relative risk = 1.6). Therefore, we concluded that the TSHR gene is not a major gene for GD in our population...
  27. pmc Analysis of immune regulatory genes' copy number variants in Graves' disease
    Amanda K Huber
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Thyroid 21:69-74. 2011
    ..Moreover, loci involved in immunity are enriched in CNVs. Therefore, we hypothesized that CNVs in immune genes associated with Graves' disease (GD) may contribute to the etiology of disease...
  28. ncbi request reprint The contribution of immune regulatory and thyroid specific genes to the etiology of Graves' and Hashimoto's diseases
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Box 1055, Mount Sinai Medical Center, One Gustave L Levy Place, New York, NY 10029, USA
    Autoimmunity 36:367-79. 2003
    ..g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg). Most likely these loci interact and their interactions may influence disease phenotype and severity...
  29. pmc The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology
    Eric M Jacobson
    Division of Endocrinology, Cincinnati VA Medical Center, Cincinnati, OH, USA
    J Autoimmun 30:58-62. 2008
    ..Future therapeutic interventions may attempt to exploit this new bolus of knowledge by endeavoring to block or modulate pathogenic peptide presentation by HLA-DR...
  30. ncbi request reprint Genetic susceptibility in thyroid autoimmunity
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Pediatr Endocrinol Rev 3:20-32. 2005
    ..g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg) and it is likely that the final disease phenotype is a result of an interaction between these loci, as well as environmental influences...
  31. ncbi request reprint Analysis of HLA genes in families with autoimmune diabetes and thyroiditis
    Lara Levin
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA
    Hum Immunol 65:640-7. 2004
    ..g., DR4) are phenotype specific; and that because the logarithm of odds score for T1D + HT was lower than for T1D alone, additional non-HLA loci must contribute to the shared genetic susceptibility to T1D and AITD...
  32. pmc Employing a recombinant HLA-DR3 expression system to dissect major histocompatibility complex II-thyroglobulin peptide dynamism: a genetic, biochemical, and reverse immunological perspective
    Eric M Jacobson
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45220, USA
    J Biol Chem 284:34231-43. 2009
    ..Our study suggests that interactions between Tg and discrete HLA-DR pocket signatures contribute to the initiation of AITD...
  33. pmc The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future
    Eric M Jacobson
    Division of Endocrinology, University of Cincinnati, The Vontz Center for Molecular Studies, 3125 Eden Avenue, Cincinnati, OH 45267, USA
    J Autoimmun 28:85-98. 2007
    ..The time is now ripe to examine the mechanistic basis for the contribution of genetic factors to the etiology of AITD. In this review, we will focus on the contribution of non-MHC II genes...
  34. pmc Molecular amino acid signatures in the MHC class II peptide-binding pocket predispose to autoimmune thyroiditis in humans and in mice
    Francesca Menconi
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    Proc Natl Acad Sci U S A 105:14034-9. 2008
    ..Because the HT- and EAT-associated pockets are structurally different, it is likely that distinct antigenic peptides are associated with HT and EAT...
  35. pmc Genetic analysis of interferon induced thyroiditis (IIT): evidence for a key role for MHC and apoptosis related genes and pathways
    Alia Hasham
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA
    J Autoimmun 44:61-70. 2013
    ..1), HLA (6p21.3), and TAP1 (6p21.3) that may be involved in the pathogenesis of IIT. Immune-regulation and apoptosis emerged as the predominant mechanisms underlying the etiology of IIT. ..
  36. ncbi request reprint The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA-DR3 positive AITD families
    Yoshiyuki Ban
    Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Clin Endocrinol (Oxf) 57:81-8. 2002
    ..The aim of the present study was to investigate the role of HLA in AITD and to explain the observed associations, but lack of linkage, by examining only AITD families with the associated allele, DR3...
  37. pmc The etiology of autoimmune thyroid disease: a story of genes and environment
    Yaron Tomer
    Division of Endocrinology, University of Cincinnati College of Medicine, The Vontz Center for Molecular Studies, Cincinnati, OH 45267, USA
    J Autoimmun 32:231-9. 2009
    ..Recent data on the genetic predisposition to AITD lead to novel putative mechanisms by which the genetic-environmental interactions may lead to the development of thyroid autoimmunity...
  38. ncbi request reprint Possible interaction between HLA-DRbeta1 and thyroglobulin variants in Graves' disease
    Susan E Hodge
    Division of Clinical Genetic Epidemiology, New York State Psychiatric Institute, New York, New York
    Thyroid 16:351-5. 2006
    ..053). Our results may suggest an interaction between the R- and CC variants in conferring susceptibility to GD. These results, if confirmed, may imply that these two variants interact biologically to increase the odds of GD...
  39. pmc IFN-α mediates the development of autoimmunity both by direct tissue toxicity and through immune cell recruitment mechanisms
    Nagako Akeno
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    J Immunol 186:4693-706. 2011
    ..Taken together, our data demonstrate that the induction of tissue inflammation and autoimmunity by IFN-α involves direct tissue toxic effects as well as provocation of destructive bystander immune responses...
  40. ncbi request reprint A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome
    Sheera Siegel
    Division of Endocrinology Diabetes and Bone Disease, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Fertil Steril 78:1240-3. 2002
    ..To examine whether the insulin receptor (INSR) gene contributes to genetic susceptibility to the polycystic ovary syndrome (PCOS)...
  41. ncbi request reprint The genetic basis of thyroid autoimmunity
    Eric M Jacobson
    Division of Endocrinology, Cincinnati VA Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    Thyroid 17:949-61. 2007
    ..In this review, we overview and highlight the recent data on the genes predisposing to AITDs and the putative mechanisms by which they confer susceptibility to disease...
  42. ncbi request reprint CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on functional recombinant human CTLA-4
    Yang Xu
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Cell Immunol 215:133-40. 2002
    ..In conclusion, both the extrinsic and intrinsic actions of human CTLA-4 were not affected by the signal peptide A49G polymorphism. Therefore, the linkage of the CTLA-4 A49G SNP to AITD is most likely secondary to linkage disequilibrium...
  43. pmc HCV E2 protein binds directly to thyroid cells and induces IL-8 production: a new mechanism for HCV induced thyroid autoimmunity
    Nagako Akeno
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    J Autoimmun 31:339-44. 2008
    ....
  44. ncbi request reprint The etiology of autoimmune diabetes and thyroiditis: evidence for common genetic susceptibility
    Lara Levin
    Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Box 1055, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Autoimmun Rev 2:377-86. 2003
    ..Therefore, it is likely that both immune regulatory and target tissue genes contribute to these and other autoimmune diseases...
  45. pmc Interleukin (IL)-23 receptor is a major susceptibility gene for Graves' ophthalmopathy: the IL-23/T-helper 17 axis extends to thyroid autoimmunity
    Amanda K Huber
    Division of Endocrinology, The Vontz Center, ML 0547, University of Cincinnati College of Medicine, 3125 Eden Avenue, Cincinnati, Ohio 45267, USA
    J Clin Endocrinol Metab 93:1077-81. 2008
    ..IL-23 and its receptor (IL-23R) guide T cells toward the T-helper 17 phenotype. IL-23R single nucleotide polymorphisms (SNPs) have been associated with several autoimmune diseases, including Crohn's disease and rheumatoid arthritis...
  46. pmc Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms
    Amanda Huber
    Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
    Endocr Rev 29:697-725. 2008
    ..Dissecting these mechanisms will lead to a better understanding of the etiology of T1D and AITD, as well as autoimmunity in general...
  47. pmc Thyrotropin receptor-associated diseases: from adenomata to Graves disease
    Terry F Davies
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Invest 115:1972-83. 2005
    ..However, it may also provide decoys for TSHR antibodies, thus influencing their biological action and clinical effects. This review discusses the role of the TSHR in the physiological and pathological stimulation of the thyroid...
  48. pmc Susceptibility genes in thyroid autoimmunity
    Yoshiyuki Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Clin Dev Immunol 12:47-58. 2005
    ..g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg). Most likely, these loci interact and their interactions may influence disease phenotype and severity...
  49. pmc The effects of alpha interferon on the development of autoimmune thyroiditis in the NOD H2h4 mouse
    Yael Oppenheim
    Division of Endocrinology, Diabetes, and Bone Diseases, New York, NY, USA
    Clin Dev Immunol 10:161-5. 2003
    ..Alternatively, it is possible that alphaIFN did not induce thyroiditis in mice because, unlike in humans, in mice alphaIFN does not induce Th1 switching...
  50. ncbi request reprint The impact of costimulatory molecule gene polymorphisms on clinical outcomes in liver transplantation
    Brad A Marder
    Division of Nephrology, Mount Sinai School of Medicine, New York, NY, USA
    Am J Transplant 3:424-31. 2003
    ..The described associations between CTLA-4 gene polymorphisms and transplant outcomes provide the foundation for further investigations leading to genetic risk stratification for transplant recipients...
  51. ncbi request reprint A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology
    Eric M Jacobson
    Division of Endocrinology, Box 1055, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Endocrinology 146:2684-91. 2005
    ..Therefore, our results may suggest that the C allele of the CD40 Kozak SNP, which is associated with Graves' disease, could predispose to disease by increasing the efficiency of translation of CD40 mRNA...
  52. ncbi request reprint Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves' disease
    Y Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genes Immun 5:203-8. 2004
    ..Our results suggested that structural heterogeneity of the DR beta-chain peptide-binding pocket P4 at residue 74 predispose some at risk individuals to GD...
  53. ncbi request reprint Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to acute allograft rejection
    E Slavcheva
    Division of Nephrology, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1243, New York, NY 10029, USA
    Transplantation 72:935-40. 2001
    ..CONCLUSION: These initial observations provide the necessary basis to further investigate the risk stratification of transplant recipients based on specific CTLA4 gene polymorphisms...
  54. pmc Genetic and epigenetic mechanisms in thyroid autoimmunity
    Alia Hasham
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, One Gustave L Levy Place, Box 1055, New York, NY 10029, USA
    Immunol Res 54:204-13. 2012
    ..As shown in our recent studies, epigenetic modifications offer an attractive mechanistic possibility that can provide further insight into the etiology of AITD...
  55. pmc Cutting edge: the etiology of autoimmune thyroid diseases
    Deirdre Cocks Eschler
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, New York, USA
    Clin Rev Allergy Immunol 41:190-7. 2011
    ..In this review, we summarize the latest findings on disease susceptibility and modulation by environmental factors...
  56. ncbi request reprint Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease
    Xiaoming Yin
    Department of Medicine, Mount Sinai School of Medicine, and James J Peters Veterans Affairs Medical Center, New York, New York, USA
    Ann N Y Acad Sci 1110:193-200. 2007
    ..6%). Statistical analysis confirmed that XCI skewing was significantly associated with AITD (P = 0.004, OR = 4.0), demonstrating that the degree of XCI is an important contributor to the increased risk of females in developing AITD...
  57. pmc Interferon alpha treatment and thyroid dysfunction
    Yaron Tomer
    Division of Endocrinology, Cincinnati VA Medical Center, USA
    Endocrinol Metab Clin North Am 36:1051-66; x-xi. 2007
    ..This article reviews the epidemiology and clinical manifestations of IIT and the mechanisms causing IIT, focusing on the role of HCV...
  58. ncbi request reprint The clinical and physiological spectrum of interferon-alpha induced thyroiditis: toward a new classification
    Jamie C Mandac
    Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA
    Hepatology 43:661-72. 2006
    ..In this review we discuss the clinical and pathophysiological aspects of IIT, and we are proposing a new, etiology-based classification of IIT, as well as an algorithm for diagnosis and treatment of IIT...
  59. doi request reprint Environmental triggers of thyroiditis: hepatitis C and interferon-α
    F Menconi
    Division of Endocrinology, Department of Medicine, Mount Sinai Medical Center, One Gustave L Levy Place, New York, NY 10029, USA
    J Endocrinol Invest 34:78-84. 2011
    ..However, anti-thyroid medications are not recommended in this setting since they can potentially be hepatotoxic...
  60. ncbi request reprint Autoimmune thyroid disease susceptibility loci in a large Chinese family
    R Villanueva
    Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Clin Endocrinol (Oxf) 56:45-51. 2002
    ..The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD...
  61. ncbi request reprint Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease
    Y Ban
    Division of Endocrinology, Diabetes, and Bone Diseases, Mount Sinai School of Medicine Box 1055, New York, NY 10029, USA
    Genes Immun 4:586-93. 2003
    ..We concluded that: (1) the AITD gene in the 2q33 locus is the CTLA-4 gene and not the CD28 or ICOS genes; and (2) the G allele is associated with decreased function of CTLA-4...
  62. ncbi request reprint The genetics of the autoimmune thyroid diseases
    T F Davies
    Mount Sinai School of Medicine, New York, New York, USA
    Ann Endocrinol (Paris) 64:28-30. 2003
    ....
  63. ncbi request reprint Linkage analysis of candidate genes in autoimmune thyroid disease. III. Detailed analysis of chromosome 14 localizes Graves' disease-1 (GD-1) close to multinodular goiter-1 (MNG-1). International Consortium for the Genetics of Autoimmune Thyroid Disease
    Y Tomer
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 83:4321-7. 1998
    ..These data again suggest the presence of a major Graves' disease susceptibilitygene (GD-1) on chromosome 14q31. This locus is close to the recently identified multinodular goiter-1 locus...
  64. ncbi request reprint Linkage analysis of candidate genes in autoimmune thyroid disease: 1. Selected immunoregulatory genes. International Consortium for the Genetics of Autoimmune Thyroid Disease
    G Barbesino
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 83:1580-4. 1998
    ..The lack of linkage for the immunoregulatory genes that were studied indicated, therefore, that they were not major contributors to disease etiology...
  65. pmc A new Graves disease-susceptibility locus maps to chromosome 20q11.2. International Consortium for the Genetics of Autoimmune Thyroid Disease
    Y Tomer
    Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, USA
    Am J Hum Genet 63:1749-56. 1998
    ..There was no evidence for heterogeneity in our sample. In our view, these results indicate strong evidence for linkage and suggest the presence of a major GD-susceptibility gene on chromosome 20q11.2...
  66. ncbi request reprint Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease
    G Barbesino
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Clin Endocrinol Metab 83:3290-5. 1998
    ..We found a locus on Xq21.33-22 linked to GD that may help to explain the female predisposition to GD. Confirmation of these data in HT may require study of an extended number of families because of possible heterogeneity...
  67. pmc Clinical review: Clinical utility of TSH receptor antibodies
    Giuseppe Barbesino
    Thyroid Unit, Division of Endocrinology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 98:2247-55. 2013
    ....
  68. ncbi request reprint Interferon induced Autoimmune Thyroid Disease (AITD): a model for human autoimmunity
    Yael Oppenheim
    Division of Endocrinology, Diabetes, and Bone Diseases, Mount Sinai School of Medicine, P O Box 1055, One Gustave L Levy Place, New York, NY 10029, USA
    Autoimmun Rev 3:388-93. 2004
    ..It is not known whether IFN-alpha initiates autoimmune thyroid disease (AITD) or simply exacerbates AITD in individuals with subclinical AITD...
  69. ncbi request reprint Update in thyroidology
    E Chester Ridgway
    Division of Endocrinology, Metabolism, and Diabetes, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Clin Endocrinol Metab 92:3755-61. 2007
    ..The new molecular understanding of thyroid cancer causation is now opening a new therapeutic frontier as drugs are developed that modulate the MAPK pathway...
  70. ncbi request reprint Is there an association between acromegaly and thyroid carcinoma? A critical review of the literature
    Glenn Siegel
    Division of Endocrinology, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Endocr Res 31:51-8. 2005
    ..We conclude that in acromegalic patients with persistently elevated IGF-I levels, one should ensure careful monitoring of goiter and thyroid nodules, including fine-needle aspiration of nodules that are 1 cm or larger...
  71. ncbi request reprint A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression
    E M Jacobson
    Division of Endocrinology, University of Cincinnati College of Medicine, Vontz Center of Molecular Medicine, Cincinnati, OH 45267, USA
    Genes Immun 8:205-14. 2007
    ..Increased thyroidal expression of CD40 driven by the SNP may contribute to this disease specificity...
  72. ncbi request reprint Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus
    S Tucci
    Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, New York, USA
    J Clin Endocrinol Metab 86:446-9. 2001
    ..Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS...
  73. ncbi request reprint Cloning and sequencing of a 1.3 KB variant of human thyrotropin receptor mRNA lacking the transmembrane domain
    P N Graves
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    Biochem Biophys Res Commun 187:1135-43. 1992
    ....
  74. ncbi request reprint Sibling recurrence risk in autoimmune thyroid disease
    R Villanueva
    Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Thyroid 13:761-4. 2003
    ..9 for AITD, 11.6 for GD, and 28.0 for HT. These results confirm the significant contribution of genetic factors to the development of AITD...
  75. ncbi request reprint Hepatitis C and thyroid autoimmunity: is there a link?
    Yaron Tomer
    Am J Med 117:60-1. 2004
  76. pmc Regression mapping of association between the human leukocyte antigen region and Graves disease
    Matthew J Simmonds
    Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, and Birmingham Heartlands Hospital, Birmingham B9 5SS, United Kingdom
    Am J Hum Genet 76:157-63. 2005
    ..However, we cannot yet exclude a primary role for DQA1 or for other polymorphisms that affect DRB1 function or expression...
  77. ncbi request reprint What is the contribution of a Kozak SNP in the CD40 gene to Graves' disease?
    Yaron Tomer
    Clin Endocrinol (Oxf) 62:258. 2005
  78. ncbi request reprint The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: an association analysis in Caucasian and Japanese cohorts
    Yoshiyuki Ban
    Third Department of Internal Medicine, Showa University School of Medicine, 1 5 8 Hatanodai, Tokyo 142 8666, Japan
    J Autoimmun 28:201-7. 2007
    ..00023; 4 df). These results suggest that polymorphisms of the FOXP3 gene may play a role in the genetic susceptibility to AITD in Caucasians, perhaps by altering FOXP3 function and/or expression...
  79. pmc 'Linkage analysis of thyroid antibody production: evidence for shared susceptibility to clinical autoimmune thyroid disease
    Yoshiyuki Ban
    Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Showa University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 93:3589-96. 2008
    ..Epidemiological data suggest a genetic susceptibility to thyroid antibody (TAb) production...
  80. pmc A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications
    Veronica J Vieland
    Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Am J Hum Genet 82:1349-56. 2008
    ..This model has several clinical implications, which we believe will prove relevant to other complex diseases as well...
  81. ncbi request reprint The mosaic of autoimmunity: genetic factors involved in autoimmune diseases--2008
    Yehuda Shoenfeld
    Department of Medicine B and Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel
    Isr Med Assoc J 10:3-7. 2008

Research Grants18

  1. Mapping Autoimmune Diabetes and Thyroiditis Genes
    Yaron Tomer; Fiscal Year: 2007
    ..This will facilitate the development of novel treatment and prevention approaches based on the mechanisms initiating the diseases. ..
  2. Thyroglobulin Peptide Presentation by HLA-DR in Thyroiditis
    Yaron Tomer; Fiscal Year: 2006
    ..This may facilitate the development of knowledge-based treatment and prevention approaches for autoimmune thyroiditis and possibly for other autoimmune diseases that share similar pathogenetic mechanisms. ..
  3. Analyzing The Joint Susceptibility Genes for Autoimmune Thyroiditis and Diabetes
    Yaron Tomer; Fiscal Year: 2010
    ..mechanisms causing the strong association between thyroid autoimmunity and type1 diabetes will allow us not only disease predictions within families, but also to develop rational, mechanism-based, treatment and prevention strategies ..
  4. Identifying and Analyzing Genes Linked to Autoimmune Thyroid Diseases
    Yaron Tomer; Fiscal Year: 2010
    ..This could have a major impact on public health, as it may facilitate the development of mechanism-based treatments in autoimmunity, such as CD40 blockade. ..
  5. Analyzing The Joint Susceptibility Genes for Autoimmune Thyroiditis and Diabetes
    Yaron Tomer; Fiscal Year: 2009
    ..mechanisms causing the strong association between thyroid autoimmunity and type1 diabetes will allow us not only disease predictions within families, but also to develop rational, mechanism-based, treatment and prevention strategies ..
  6. Identifying and Analyzing Genes Linked to Autoimmune Thyroid Diseases
    Yaron Tomer; Fiscal Year: 2009
    ..This could have a major impact on public health, as it may facilitate the development of mechanism-based treatments in autoimmunity, such as CD40 blockade. ..
  7. Identifying Genes Linked to Autoimmune Thyroid Diseases
    Yaron Tomer; Fiscal Year: 2006
    ..This will allow us to understand the mechanisms initiating these diseases, and hopefully will lead to the development of new therapies targeted at the mechanisms initiating AITD. ..
  8. Thyroglobulin Peptide Presentation by HLA-DR in Thyroiditis
    Yaron Tomer; Fiscal Year: 2010
    ..This may facilitate the development of knowledge-based treatment and prevention approaches for autoimmune thyroiditis and possibly for other autoimmune diseases that share similar pathogenetic mechanisms. ..