Genomes and Genes
Amanda K Huber
Affiliation: Mount Sinai School of Medicine
- Analysis of immune regulatory genes' copy number variants in Graves' diseaseAmanda 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...
- Genetically driven target tissue overexpression of CD40: a novel mechanism in autoimmune diseaseAmanda 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...
- IFN-α mediates the development of autoimmunity both by direct tissue toxicity and through immune cell recruitment mechanismsNagako 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...
- Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanismMihaela 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...
- Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex familiesMaria 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)...
- Interleukin (IL)-23 receptor is a major susceptibility gene for Graves' ophthalmopathy: the IL-23/T-helper 17 axis extends to thyroid autoimmunityAmanda 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...
- Hyperthyroid-associated osteoporosis is exacerbated by the loss of TSH signalingRamkumarie Baliram
Thyroid Research Unit and The Mount Sinai Bone Program, Department of Medicine, Mount Sinai School of Medicine, and James J Peters VA Medical Center, New York, New York 10029, USA
J Clin Invest 122:3737-41. 2012..Further, we identified a TSH-like factor that may confer osteoprotection. These studies suggest that therapeutic suppression of TSH to very low levels may contribute to bone loss in people...