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Maturity-onset diabetes of the young due to NR0B2 gene mutation

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참고문헌

주제분류소아과학

참고문헌 (9)

  1. Tattersall RB, "Mild familial diabetes with dominant inheritance", Q J Med, 43, pp.339~357 (1974)
  2. Tosur M, "Precision diabetes : lessons learned from maturity-onset diabetes of the young(MODY)", J Diabetes Investig, 13, pp.1465~1471 (2022)
  3. Zhang Y, "Role of nuclear receptor SHP in metabolism and cancer", Biochim Biophys Acta, 1812, pp.893~908 (2011)
  4. Nishigori H, "Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects", Proc Natl Acad Sci U S A, 98, pp.575~580 (2001)
  5. Mitchell SM, "Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U. K. subjects", Diabetes, 52, pp.1276~1279 (2003)
  6. Garruti G, "A pleiotropic role for the orphan nuclear receptor small heterodimer partner in lipid homeostasis and metabolic pathways", J Lipids, 2012, pp.304292~ (2012)
  7. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  8. Pearson ER, "Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection", Diabetologia, 48, pp.878~885 (2005)
  9. Yamagata K, "Regulation of pancreatic beta-cell function by the HNF transcription network : lessons from maturity-onset diabetes of the young(MODY)", Endocr J, 50, pp.491~499 (2003)

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