Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus (original) (raw)
Naya, F.J. et al. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes Dev.11, 2323–2334 (1997). ArticleCAS Google Scholar
Naya, F.J., Stellrecht, C.M. & Tsai, M.J. Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor. Genes Dev.9, 1009–1019 ( 1995). ArticleCAS Google Scholar
Qiu, Y., Sharma, A. & Stein, R. p300 mediates transcriptional stimulation by the basic helix-loop-helix activators of the insulin gene. Mol. Cell. Biol.18, 2957–2964 ( 1998). ArticleCAS Google Scholar
Sharma, A. et al. The NeuroD1/BETA2 sequences essential for insulin gene transcription colocalize with those necessary for neurogenesis and p300/CREB binding protein binding. Mol. Cell. Biol.19, 704– 713 (1999). ArticleCAS Google Scholar
Tamimi, R. et al. The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2. Genomics34, 418–421 (1996). ArticleCAS Google Scholar
Yoon, Y.S., Noma, T., Yamashiro, Y., Ito, H. & Nakazawa, A. Molecular cloning and characterization of the gene encoding human NeuroD. Neurosci. Lett.251, 17– 20 (1998). ArticleCAS Google Scholar
Furuta H. et al. β-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese. Diabetes47, 1356– 1358 (1998).
Ji, L. et al. New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes46, 876–881 (1997). ArticleCAS Google Scholar
Doria, A. et al. Phenotypic characteristics of early-onset, autosomal dominant type-2 diabetes unlinked to known MODY genes. Diabetes Care22, 253–261 (1999). ArticleCAS Google Scholar
Dupont, S. et al. No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in type 2 diabetes in France. Diabetologia42, 480–484 (1999). ArticleCAS Google Scholar
Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-4α gene in the maturity-onset diabetes of the young (MODY1). Nature384, 458–460 (1996). ArticleCAS Google Scholar
Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature384, 455–458 (1996). ArticleCAS Google Scholar
Lehto, M. et al. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. J. Clin. Invest.99, 582–591 (1997). ArticleCAS Google Scholar
Yokoyama, M. et al. Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum. Brain Res. Mol. Brain Res.42, 135– 139 (1996). ArticleCAS Google Scholar
Mutoh, H., Naya, F.J., Tsai, M.J. & Leiter, A.B. The basic helix-loop-helix protein BETA2 interacts with p300 to coordinate differentiation of secretin-expressing enteroendocrine cells. Genes Dev.12, 820 –830 (1998). ArticleCAS Google Scholar
Ma, P.C. et al. Crystal structure of MyoD bHLH domain-DNA complex: perspectives on DNA recognition and implications for transcriptional activation. Cell77, 451–459 ( 1994). ArticleCAS Google Scholar
Ellenberger, T., Fass, D., Arnaud, M. & Harrison, S.C. Crystal structure of transcription factor E47: E-box recognition by a basic region helix-loop-helix dimer. Genes Dev.8, 970– 980 (1994). ArticleCAS Google Scholar
Voronova, A. & Baltimore, D. Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains. Proc. Natl Acad. Sci. USA87, 4722– 4726 (1990). ArticleCAS Google Scholar
Ogryzko, V.V., Schiltz, R.L., Russanova, V., Howard, B.H. & Nakatani, Y. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell87 , 953–959 (1996). ArticleCAS Google Scholar
Yao, T.P. et al. Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. Cell93, 361–372 ( 1998). ArticleCAS Google Scholar
Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. National Diabetes Data Group. Diabetes28, 1039– 1057 (1979). Article Google Scholar
Harris, M.I., Hadden, W.C., Knowler, W.C. & Bennet, P.H. International criteria for the diagnosis of diabetes and impaired glucose tolerance. Diabetes Care8, 562– 567 (1985). ArticleCAS Google Scholar
Grubin, C.E. et al. A novel radioligand binding assay to determine diagnostic accuracy of isoform-specific glutamic acid decarboxylase antibodies in childhood IDDM. Diabetologia37, 344– 350 (1994). ArticleCAS Google Scholar
Christie, M.R., Vohra, G., Champagne, D. & Delovitch, T.L. Distinct antibody specificities to a 64-kD islet cell antigen in type I diabetes as revealed by trypsin treatment. J. Exp. Med.172, 789–794 (1990). ArticleCAS Google Scholar
Vaxillaire, M. et al. A gene for maturity onset diabetes of the young maps to chromosome 12q. Nature Genet.9, 418– 423 (1995). ArticleCAS Google Scholar