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Gene Information
Gene symbol: SMCR
Gene name: Smith-Magenis syndrome chromosome region
HGNC ID: 11113
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | GAD1 | 1 hits |
| 2 | GAD2 | 1 hits |
| 3 | IDDM2 | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 7505244 | Two of four SMS patients' sera and 5 of 5 APS I patients' sera, in contrast to 0 of 7 IDDM patients' sera, inhibited the enzymatic activity of GAD. |
| 2 | 7505244 | When the various sera were tested with the GAD65 and GAD67 isoforms, produced separately by transient expression in COS cells, the enzymatic activity of GAD65 was inhibited by sera from patients with SMS and APS I, whereas no effect on the GAD67 activity was observed. |
| 3 | 7511084 | The sera were tested for their capacity to inhibit the catalytic activity of GAD, but only the high-titer serum from the patient with SMS did so. |
| 4 | 7519242 | All SMS patients immunoprecipitated native GAD65 and the main titers were orders of magnitude higher than in IDDM patients. |
| 5 | 7519242 | Furthermore, in contrast to the situation in IDDM, autoantibodies in 35 of 35 (100%) of SMS patients recognized denatured GAD65 on Western blots. |
| 6 | 7519242 | The greater magnitude and distinct specificity of the humoral response to GAD65 in SMS may reflect a biased involvement of the T helper cell type 2 (Th2) subset of CD4+ T cells and antibody responses, whereas IDDM is likely mediated by the Th1 subset of CD4+ T cells and cytotoxic T cell responses. |
| 7 | 8039593 | Several assays, in particular those measuring GAD enzymatic activity immunoprecipitated in fluid phase from rat brain homogenate, showed a prozone-like phenomenon in the SMS dilution curve. |
| 8 | 7926297 | GAD is also an antigen in stiff-man syndrome (SMS), and both SMS and IDDM are associated with ICAs and autoimmunity to other endocrine organs. |
| 9 | 7926297 | Thus, certain factors enhance antibody responses to GAD in polyendocrine autoimmunity, but this does not necessarily lead to development of IDDM or SMS. |