Maturity-onset diabetes of the young (MODY) is a clinicallyheterogeneous group of disorders characterized by nonketoticdiabetes mellitus, an autosomal dominant mode of inheritance,an onset usually before the age of 25 years and frequently inchildhood or adolescence, and a primary defect in the functionof the beta cells of the pancreas. MODY can result from mutationsin any one of at least six different genes (Table 1). One ofthese genes encodes the glycolytic enzyme glucokinase (associatedwith MODY 2),3 and the other five encode transcription factors:hepatocyte nuclear factor (HNF) 4 (associated with MODY 1),4. . . [Full Text of this Article]
Clinical Presentation
Function of the Gene Products Implicated in MODY
Glucokinase
HNF-1, HNF-1, and HNF-4
IPF-1
NeuroD1 (BETA2)
Clinical Features of Subtypes of MODY
MODY 2
MODY 1 and MODY 3
MODY 4
MODY 5
MODY Associated with Mutations in Other Genes
Mutations in MODY-Related Genes in Type 2 Diabetes
Genetic Screening for MODY
Conclusions
Source Information
From the Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Michigan Health System, Ann Arbor (S.S.F.); the Howard Hughes Medical Institute and Departments of Biochemistry and Molecular Biology, Medicine, and Human Genetics, University of Chicago, Chicago (G.I.B.); and the Departments of Medicine and Cell Biology and Physiology, Washington University School of Medicine, St. Louis (K.S.P.).
Address reprint requests to Dr. Fajans at 3920 Taubman Ctr., Box 0354, University Hospitals, Ann Arbor, MI 48109-0354, or at sfajans@umich.edu.
References
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He, Y.-J., Zhang, W., Tu, J.-H., Kirchheiner, J., Chen, Y., Guo, D., Li, Q., Li, Z.-Y., Chen, H., Hu, D.-L., Wang, D., Zhou, H.-H.
(2008). Hepatic Nuclear Factor 1{alpha} Inhibitor Ursodeoxycholic Acid Influences Pharmacokinetics of the Organic Anion Transporting Polypeptide 1B1 Substrate Rosuvastatin and Bilirubin. Drug Metab. Dispos.
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7: 1434-1451
[Abstract][Full Text]
Oliver-Krasinski, J. M., Stoffers, D. A.
(2008). On the origin of the {beta} cell. Genes Dev.
22: 1998-2021
[Abstract][Full Text]
Martin, D., Bellanne-Chantelot, C., Deschamps, I., Froguel, P., Robert, J.-J., Velho, G.
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31: 1321-1323
[Abstract][Full Text]
Welters, H. J, Oknianska, A., Erdmann, K. S, Ryffel, G. U, Morgan, N. G
(2008). The protein tyrosine phosphatase-BL, modulates pancreatic {beta}-cell proliferation by interaction with the Wnt signalling pathway. J Endocrinol
197: 543-552
[Abstract][Full Text]
Holmkvist, J., Almgren, P., Lyssenko, V., Lindgren, C. M., Eriksson, K.-F., Isomaa, B., Tuomi, T., Nilsson, P., Groop, L.
(2008). Common Variants in Maturity-Onset Diabetes of the Young Genes and Future Risk of Type 2 Diabetes. Diabetes
57: 1738-1744
[Abstract][Full Text]
Vaxillaire, M., Froguel, P.
(2008). Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes. Endocr. Rev.
29: 254-264
[Abstract][Full Text]
The ESHRE Capri Workshop Group,
(2008). Genetic aspects of female reproduction. Hum Reprod Update
0: dmn009v1-15
[Abstract][Full Text]
Molven, A., Ringdal, M., Nordbo, A. M., Raeder, H., Stoy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., Undlien, D. E., Joner, G., Sovik, O., the Norwegian Childhood Diabetes Study Group, , Bell, G. I., Njolstad, P. R.
(2008). Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes. Diabetes
57: 1131-1135
[Abstract][Full Text]
Brun, T., Gauthier, B. R
(2008). A focus on the role of Pax4 in mature pancreatic islet {beta}-cell expansion and survival in health and disease. J Mol Endocrinol
40: 37-45
[Abstract][Full Text]
Gulati, A. S., Ochsner, S. A., Henning, S. J.
(2008). Molecular properties of side population-sorted cells from mouse small intestine. Am. J. Physiol. Gastrointest. Liver Physiol.
294: G286-G294
[Abstract][Full Text]
Florez, J. C., Manning, A. K., Dupuis, J., McAteer, J., Irenze, K., Gianniny, L., Mirel, D. B., Fox, C. S., Cupples, L. A., Meigs, J. B.
(2007). A 100K Genome-Wide Association Scan for Diabetes and Related Traits in the Framingham Heart Study: Replication and Integration With Other Genome-Wide Datasets. Diabetes
56: 3063-3074
[Abstract][Full Text]
Plengvidhya, N., Kooptiwut, S., Songtawee, N., Doi, A., Furuta, H., Nishi, M., Nanjo, K., Tantibhedhyangkul, W., Boonyasrisawat, W., Yenchitsomanus, P.-t., Doria, A., Banchuin, N.
(2007). PAX4 Mutations in Thais with Maturity Onset Diabetes of the Young. J. Clin. Endocrinol. Metab.
92: 2821-2826
[Abstract][Full Text]
Sahu, R. P., Aggarwal, A., Zaidi, G., Shah, A., Modi, K., Kongara, S., Aggarwal, S., Talwar, S., Chu, S., Bhatia, V., Bhatia, E.
(2007). Etiology of Early-Onset Type 2 Diabetes in Indians: Islet Autoimmunity and Mutations in Hepatocyte Nuclear Factor 1{alpha} and Mitochondrial Gene. J. Clin. Endocrinol. Metab.
92: 2462-2467
[Abstract][Full Text]
Egerod, K. L., Holst, B., Petersen, P. S., Hansen, J. B., Mulder, J., Hokfelt, T., Schwartz, T. W.
(2007). GPR39 Splice Variants Versus Antisense Gene LYPD1: Expression and Regulation in Gastrointestinal Tract, Endocrine Pancreas, Liver, and White Adipose Tissue. Mol. Endocrinol.
21: 1685-1698
[Abstract][Full Text]
Watanabe, R. M., Black, M. H., Xiang, A. H., Allayee, H., Lawrence, J. M., Buchanan, T. A.
(2007). Genetics of Gestational Diabetes Mellitus and Type 2 Diabetes. Diabetes Care
30: S134-S140
[Full Text]
Karges, B., Bergmann, C., Scholl, K., Heinze, E., Rasche, F. M., Zerres, K., Debatin, K.-M., Wabitsch, M., Karges, W.
(2007). Digenic Inheritance of Hepatocyte Nuclear Factor-1{alpha} and -1{beta} With Maturity-Onset Diabetes of the Young, Polycystic Thyroid, and Urogenital Malformations. Diabetes Care
30: 1613-1614
[Full Text]
Andrali, S. S., Qian, Q., Ozcan, S.
(2007). Glucose Mediates the Translocation of NeuroD1 by O-Linked Glycosylation. J. Biol. Chem.
282: 15589-15596
[Abstract][Full Text]
Savage, D. B., Petersen, K. F., Shulman, G. I.
(2007). Disordered Lipid Metabolism and the Pathogenesis of Insulin Resistance. Physiol. Rev.
87: 507-520
[Abstract][Full Text]
Winckler, W., Weedon, M. N., Graham, R. R., McCarroll, S. A., Purcell, S., Almgren, P., Tuomi, T., Gaudet, D., Bostrom, K. B., Walker, M., Hitman, G., Hattersley, A. T., McCarthy, M. I., Ardlie, K. G., Hirschhorn, J. N., Daly, M. J., Frayling, T. M., Groop, L., Altshuler, D.
(2007). Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes. Diabetes
56: 685-693
[Abstract][Full Text]
Decramer, S., Parant, O., Beaufils, S., Clauin, S., Guillou, C., Kessler, S., Aziza, J., Bandin, F., Schanstra, J. P., Bellanne-Chantelot, C.
(2007). Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys. J. Am. Soc. Nephrol.
18: 923-933
[Abstract][Full Text]
Kitanaka, S., Sato, U., Igarashi, T.
(2007). Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1{beta} and HNF-1{alpha} and the abnormality of HNF-1{beta} mutants. J Endocrinol
192: 141-147
[Abstract][Full Text]
Florez, J. C., Saxena, R., Winckler, W., Burtt, N. P., Almgren, P., Bengtsson Bostrom, K., Tuomi, T., Gaudet, D., Ardlie, K. G., Daly, M. J., Altshuler, D., Hirschhorn, J. N., Groop, L.
(2006). The Kruppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not Associated With Type 2 Diabetes in 8,676 People. Diabetes
55: 3620-3624
[Abstract][Full Text]
Cerf, M. E
(2006). Transcription factors regulating {beta}-cell function.. Eur J Endocrinol
155: 671-679
[Abstract][Full Text]
Koster, J. C., Remedi, M. S., Masia, R., Patton, B., Tong, A., Nichols, C. G.
(2006). Expression of ATP-Insensitive KATP Channels in Pancreatic {beta}-Cells Underlies a Spectrum of Diabetic Phenotypes. Diabetes
55: 2957-2964
[Abstract][Full Text]
Saxena, R., Gianniny, L., Burtt, N. P., Lyssenko, V., Giuducci, C., Sjogren, M., Florez, J. C., Almgren, P., Isomaa, B., Orho-Melander, M., Lindblad, U., Daly, M. J., Tuomi, T., Hirschhorn, J. N., Ardlie, K. G., Groop, L. C., Altshuler, D.
(2006). Common Single Nucleotide Polymorphisms in TCF7L2 Are Reproducibly Associated With Type 2 Diabetes and Reduce the Insulin Response to Glucose in Nondiabetic Individuals.. Diabetes
55: 2890-2895
[Abstract][Full Text]
Bonnycastle, L. L., Willer, C. J., Conneely, K. N., Jackson, A. U., Burrill, C. P., Watanabe, R. M., Chines, P. S., Narisu, N., Scott, L. J., Enloe, S. T., Swift, A. J., Duren, W. L., Stringham, H. M., Erdos, M. R., Riebow, N. L., Buchanan, T. A., Valle, T. T., Tuomilehto, J., Bergman, R. N., Mohlke, K. L., Boehnke, M., Collins, F. S.
(2006). Common Variants in Maturity-Onset Diabetes of the Young Genes Contribute to Risk of Type 2 Diabetes in Finns. Diabetes
55: 2534-2540
[Abstract][Full Text]
Sperling, M. A.
(2006). ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond.. NEJM
355: 507-510
[Full Text]
Yokoi, N., Kanamori, M., Horikawa, Y., Takeda, J., Sanke, T., Furuta, H., Nanjo, K., Mori, H., Kasuga, M., Hara, K., Kadowaki, T., Tanizawa, Y., Oka, Y., Iwami, Y., Ohgawara, H., Yamada, Y., Seino, Y., Yano, H., Cox, N. J., Seino, S.
(2006). Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects.. Diabetes
55: 2379-2386
[Abstract][Full Text]
Florez, J. C., Jablonski, K. A., Bayley, N., Pollin, T. I., de Bakker, P. I.W., Shuldiner, A. R., Knowler, W. C., Nathan, D. M., Altshuler, D., the Diabetes Prevention Program Research Group,
(2006). TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program.. NEJM
355: 241-250
[Abstract][Full Text]
Wang, J., Cortina, G., Wu, S. V., Tran, R., Cho, J.-H., Tsai, M.-J., Bailey, T. J., Jamrich, M., Ament, M. E., Treem, W. R., Hill, I. D., Vargas, J. H., Gershman, G., Farmer, D. G., Reyen, L., Martin, M. G.
(2006). Mutant neurogenin-3 in congenital malabsorptive diarrhea.. NEJM
355: 270-280
[Abstract][Full Text]
Welters, H. J, Senkel, S., Klein-Hitpass, L., Erdmann, S., Thomas, H., Harries, L. W, Pearson, E. R, Bingham, C., Hattersley, A. T, Ryffel, G. U, Morgan, N. G
(2006). Conditional expression of hepatocyte nuclear factor-1{beta}, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic {beta}-cells.. J Endocrinol
190: 171-181
[Abstract][Full Text]
Raeder, H., Bjorkhaug, L., Johansson, S., Mangseth, K., Sagen, J. V., Hunting, A., Folling, I., Johansen, O., Bjorgaas, M., Paus, P. N., Sovik, O., Molven, A., Njolstad, P. R.
(2006). A Hepatocyte Nuclear Factor-4{alpha} Gene (HNF4A) P2 Promoter Haplotype Linked With Late-Onset Diabetes: Studies of HNF4A Variants in the Norwegian MODY Registry. Diabetes
55: 1899-1903
[Abstract][Full Text]
Hattersley, A. T., Pearson, E. R.
(2006). Minireview: Pharmacogenetics and Beyond: The Interaction of Therapeutic Response, {beta}-Cell Physiology, and Genetics in Diabetes. Endocrinology
147: 2657-2663
[Abstract][Full Text]
Hara, K., Horikoshi, M., Kitazato, H., Ito, C., Noda, M., Ohashi, J., Froguel, P., Tokunaga, K., Tobe, K., Nagai, R., Kadowaki, T.
(2006). Hepatocyte Nuclear Factor-4{alpha} P2 Promoter Haplotypes Are Associated With Type 2 Diabetes in the Japanese Population.. Diabetes
55: 1260-1264
[Abstract][Full Text]
Hawkins, R. D., Ren, B.
(2006). Genome-wide location analysis: insights on transcriptional regulation.. Hum Mol Genet
15: R1-R7
[Abstract][Full Text]
Peltonen, L., Perola, M., Naukkarinen, J., Palotie, A.
(2006). Lessons from studying monogenic disease for common disease.. Hum Mol Genet
15: R67-R74
[Full Text]
Umpierrez, G. E., Smiley, D., Kitabchi, A. E.
(2006). Narrative review: ketosis-prone type 2 diabetes mellitus.. ANN INTERN MED
144: 350-357
[Abstract][Full Text]
Miura, A., Yamagata, K., Kakei, M., Hatakeyama, H., Takahashi, N., Fukui, K., Nammo, T., Yoneda, K., Inoue, Y., Sladek, F. M., Magnuson, M. A., Kasai, H., Miyagawa, J., Gonzalez, F. J., Shimomura, I.
(2006). Hepatocyte Nuclear Factor-4{alpha} Is Essential for Glucose-stimulated Insulin Secretion by Pancreatic beta-Cells. J. Biol. Chem.
281: 5246-5257
[Abstract][Full Text]
Tuomi, T., Honkanen, E. H., Isomaa, B., Sarelin, L., Groop, L. C.
(2006). Improved Prandial Glucose Control With Lower Risk of Hypoglycemia With Nateglinide Than With Glibenclamide in Patients With Maturity-Onset Diabetes of the Young Type 3. Diabetes Care
29: 189-194
[Abstract][Full Text]
Ulinski, T., Lescure, S., Beaufils, S., Guigonis, V., Decramer, S., Morin, D., Clauin, S., Deschenes, G., Bouissou, F., Bensman, A., Bellanne-Chantelot, C.
(2006). Renal Phenotypes Related to Hepatocyte Nuclear Factor-1beta (TCF2) Mutations in a Pediatric Cohort. J. Am. Soc. Nephrol.
17: 497-503
[Abstract][Full Text]
Volinic, J. L., Lee, J. H., Eto, K., Kaur, V., Thomas, M. K.
(2006). Overexpression of the Coactivator Bridge-1 Results in Insulin Deficiency and Diabetes. Mol. Endocrinol.
20: 167-182
[Abstract][Full Text]
Lee, J. H, Volinic, J. L, Banz, C., Yao, K.-M., Thomas, M. K
(2005). Interactions with p300 enhance transcriptional activation by the PDZ-domain coactivator Bridge-1. J Endocrinol
187: 283-292
[Abstract][Full Text]
Malecki, M. T., Skupien, J., Gorczynska-Kosiorz, S., Klupa, T., Nazim, J., Moczulski, D. K., Sieradzki, J.
(2005). Renal Malformations May Be Linked to Mutations in the Hepatocyte Nuclear Factor-1{alpha} (MODY3) Gene. Diabetes Care
28: 2774-2776
[Full Text]
Bellanne-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.-F., Wilhem, J.-M., Young, J., Velho, G., Timsit, J.
(2005). Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1{beta} (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5. Diabetes
54: 3126-3132
[Abstract][Full Text]
Hull, R. L., Watts, M. R., Kodama, K., Shen, Z.-p., Utzschneider, K. M., Carr, D. B., Vidal, J., Kahn, S. E.
(2005). Genetic background determines the extent of islet amyloid formation in human islet amyloid polypeptide transgenic mice. Am. J. Physiol. Endocrinol. Metab.
289: E703-E709
[Abstract][Full Text]
Wang, H, Horikawa, Y, Jin, L, Narita, T, Yamada, S, Shihara, N, Tatemoto, K, Muramatsu, M, Mune, T, Takeda, J
(2005). Gene expression profile in rat pancreatic islet and RINm5F cells. J Mol Endocrinol
35: 1-12
[Abstract][Full Text]
Winckler, W., Burtt, N. P., Holmkvist, J., Cervin, C., de Bakker, P. I.W., Sun, M., Almgren, P., Tuomi, T., Gaudet, D., Hudson, T. J., Ardlie, K. G., Daly, M. J., Hirschhorn, J. N., Altshuler, D., Groop, L.
(2005). Association of Common Variation in the HNF1{alpha} Gene Region With Risk of Type 2 Diabetes. Diabetes
54: 2336-2342
[Abstract][Full Text]
Weedon, M. N., Owen, K. R., Shields, B., Hitman, G., Walker, M., McCarthy, M. I., Hattersley, A. T., Frayling, T. M.
(2005). A Large-Scale Association Analysis of Common Variation of the HNF1{alpha} Gene With Type 2 Diabetes in the U.K. Caucasian Population. Diabetes
54: 2487-2491
[Abstract][Full Text]
Stride, A., Ellard, S., Clark, P., Shakespeare, L., Salzmann, M., Shepherd, M., Hattersley, A. T.
(2005). {beta}-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1{alpha} Mutation Carriers. Diabetes Care
28: 1751-1756
[Abstract][Full Text]
Seda, O., Liska, F., Krenova, D., Kazdova, L., Sedova, L., Zima, T., Peng, J., Pelinkova, K., Tremblay, J., Hamet, P., Kren, V.
(2005). Dynamic genetic architecture of metabolic syndrome attributes in the rat. Physiol. Genomics
21: 243-252
[Abstract][Full Text]
Winckler, W., Graham, R. R., de Bakker, P. I.W., Sun, M., Almgren, P., Tuomi, T., Gaudet, D., Hudson, T. J., Ardlie, K. G., Daly, M. J., Hirschhorn, J. N., Groop, L., Altshuler, D.
(2005). Association Testing of Variants in the Hepatocyte Nuclear Factor 4{alpha} Gene With Risk of Type 2 Diabetes in 7,883 People. Diabetes
54: 886-892
[Abstract][Full Text]
Kawasaki, F., Matsuda, M., Kanda, Y., Inoue, H., Kaku, K.
(2005). Structural and functional analysis of pancreatic islets preserved by pioglitazone in db/db mice. Am. J. Physiol. Endocrinol. Metab.
288: E510-E518
[Abstract][Full Text]
Damcott, C. M., Hoppman, N., Ott, S. H., Reinhart, L. J., Wang, J., Pollin, T. I., O'Connell, J. R., Mitchell, B. D., Shuldiner, A. R.
(2004). Polymorphisms in Both Promoters of Hepatocyte Nuclear Factor 4-{alpha} Are Associated With Type 2 Diabetes in the Amish. Diabetes
53: 3337-3341
[Abstract][Full Text]
Porter, J R, Barrett, T G
(2004). Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management. Arch. Dis. Child.
89: 1138-1144
[Abstract][Full Text]
Winzell, M. S., Pacini, G., Wollheim, C. B., Ahren, B.
(2004). Beta-Cell-Targeted Expression of a Dominant-Negative Mutant of Hepatocyte Nuclear Factor-1{alpha} in Mice: Diabetes Model with {beta}-Cell Dysfunction Partially Rescued by Nonglucose Secretagogues. Diabetes
53: S92-S96
[Abstract][Full Text]
Thomas, H., Senkel, S., Erdmann, S., Arndt, T., Turan, G., Klein-Hitpass, L., Ryffel, G. U.
(2004). Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4{alpha} and HNF1{beta} in a pancreatic {beta}-cell line. Nucleic Acids Res
32: e150-e150
[Abstract][Full Text]
Wang, L., Coffinier, C., Thomas, M. K., Gresh, L., Eddu, G., Manor, T., Levitsky, L. L., Yaniv, M., Rhoads, D. B.
(2004). Selective Deletion of the Hnf1{beta} (MODY5) Gene in {beta}-Cells Leads to Altered Gene Expression and Defective Insulin Release. Endocrinology
145: 3941-3949
[Abstract][Full Text]
Xie, J., Zhu, H., Larade, K., Ladoux, A., Seguritan, A., Chu, M., Ito, S., Bronson, R. T., Leiter, E. H., Zhang, C.-Y., Rosen, E. D., Bunn, H. F.
(2004). Absence of a reductase, NCB5OR, causes insulin-deficient diabetes. Proc. Natl. Acad. Sci. USA
101: 10750-10755
[Abstract][Full Text]
Hinke, S. A., Hellemans, K., Schuit, F. C.
(2004). Plasticity of the {beta} cell insulin secretory competence: preparing the pancreatic {beta} cell for the next meal. J. Physiol.
558: 369-380
[Abstract][Full Text]
Bakalov, V. K., Cooley, M. M., Quon, M. J., Luo, M. L., Yanovski, J. A., Nelson, L. M., Sullivan, G., Bondy, C. A.
(2004). Impaired Insulin Secretion in the Turner Metabolic Syndrome. J. Clin. Endocrinol. Metab.
89: 3516-3520
[Abstract][Full Text]
Marz, W., Nauck, M., Hoffmann, M. M., Nagel, D., Boehm, B. O., Koenig, W., Rothenbacher, D., Winkelmann, B. R.
(2004). G(-30)A Polymorphism in the Pancreatic Promoter of the Glucokinase Gene Associated With Angiographic Coronary Artery Disease and Type 2 Diabetes Mellitus. Circulation
109: 2844-2849
[Abstract][Full Text]
Yorifuji, T., Kurokawa, K., Mamada, M., Imai, T., Kawai, M., Nishi, Y., Shishido, S., Hasegawa, Y., Nakahata, T.
(2004). Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1{beta} Gene Due to Germline Mosaicism. J. Clin. Endocrinol. Metab.
89: 2905-2908
[Abstract][Full Text]
Oberkofler, H., Linnemayr, V., Weitgasser, R., Klein, K., Xie, M., Iglseder, B., Krempler, F., Paulweber, B., Patsch, W.
(2004). Complex Haplotypes of the PGC-1{alpha} Gene Are Associated With Carbohydrate Metabolism and Type 2 Diabetes. Diabetes
53: 1385-1393
[Abstract][Full Text]
Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J.
(2004). Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1{beta} Mutations. ANN INTERN MED
140: 510-517
[Abstract][Full Text]
Vella, A., Howson, J. M.M., Barratt, B. J., Twells, R. C.J., Rance, H. E., Nutland, S., Tuomilehto-Wolf, E., Tuomilehto, J., Undlien, D. E., Ronningen, K. S., Guja, C., Ionescu-Tirgoviste, C., Savage, D. A., Todd, J. A.
(2004). Lack of Association of the Ala45Thr Polymorphism and Other Common Variants of the NeuroD Gene With Type 1 Diabetes. Diabetes
53: 1158-1161
[Abstract][Full Text]
Love-Gregory, L. D., Wasson, J., Ma, J., Jin, C. H., Glaser, B., Suarez, B. K., Permutt, M. A.
(2004). A Common Polymorphism in the Upstream Promoter Region of the Hepatocyte Nuclear Factor-4{alpha} Gene on Chromosome 20q Is Associated With Type 2 Diabetes and Appears to Contribute to the Evidence for Linkage in an Ashkenazi Jewish Population. Diabetes
53: 1134-1140
[Abstract][Full Text]
Silander, K., Mohlke, K. L., Scott, L. J., Peck, E. C., Hollstein, P., Skol, A. D., Jackson, A. U., Deloukas, P., Hunt, S., Stavrides, G., Chines, P. S., Erdos, M. R., Narisu, N., Conneely, K. N., Li, C., Fingerlin, T. E., Dhanjal, S. K., Valle, T. T., Bergman, R. N., Tuomilehto, J., Watanabe, R. M., Boehnke, M., Collins, F. S.
(2004). Genetic Variation Near the Hepatocyte Nuclear Factor-4{alpha} Gene Predicts Susceptibility to Type 2 Diabetes. Diabetes
53: 1141-1149
[Abstract][Full Text]
Ashcroft, F., Rorsman, P.
(2004). Type 2 diabetes mellitus: not quite exciting enough?. Hum Mol Genet
13: R21-R31
[Abstract][Full Text]
Kitanaka, S., Miki, Y., Hayashi, Y., Igarashi, T.
(2004). Promoter-Specific Repression of Hepatocyte Nuclear Factor (HNF)-1{beta} and HNF-1{alpha} Transcriptional Activity by an HNF-1{beta} Missense Mutant Associated with Type 5 Maturity-Onset Diabetes of the Young with Hepatic and Biliary Manifestations. J. Clin. Endocrinol. Metab.
89: 1369-1378
[Abstract][Full Text]
Reznik, Y., Dao, T., Coutant, R., Chiche, L., Jeannot, E., Clauin, S., Rousselot, P., Fabre, M., Oberti, F., Fatome, A., Zucman-Rossi, J., Bellanne-Chantelot, C.
(2004). Hepatocyte Nuclear Factor-1{alpha} Gene Inactivation: Cosegregation between Liver Adenomatosis and Diabetes Phenotypes in Two Maturity-Onset Diabetes of the Young (MODY)3 Families. J. Clin. Endocrinol. Metab.
89: 1476-1480
[Abstract][Full Text]
Odom, D. T., Zizlsperger, N., Gordon, D. B., Bell, G. W., Rinaldi, N. J., Murray, H. L., Volkert, T. L., Schreiber, J., Rolfe, P. A., Gifford, D. K., Fraenkel, E., Bell, G. I., Young, R. A.
(2004). Control of Pancreas and Liver Gene Expression by HNF Transcription Factors. Science
303: 1378-1381
[Abstract][Full Text]
Kasim-Karakas, S. E., Almario, R. U., Gregory, L., Wong, R., Todd, H., Lasley, B. L.
(2004). Metabolic and Endocrine Effects of a Polyunsaturated Fatty Acid-Rich Diet in Polycystic Ovary Syndrome. J. Clin. Endocrinol. Metab.
89: 615-620
[Abstract][Full Text]
Cockburn, B. N., Bermano, G., Boodram, L.-L. G., Teelucksingh, S., Tsuchiya, T., Mahabir, D., Allan, A. B., Stein, R., Docherty, K., Bell, G. I.
(2004). Insulin Promoter Factor-1 Mutations and Diabetes in Trinidad: Identification of a Novel Diabetes-Associated Mutation (E224K) in an Indo-Trinidadian Family. J. Clin. Endocrinol. Metab.
89: 971-978
[Abstract][Full Text]
Pezzolesi, M. G., Nam, M., Nagase, T., Klupa, T., Dunn, J. S., Mlynarski, W. M., Rich, S. S., Warram, J. H., Krolewski, A. S.
(2004). Examination of Candidate Chromosomal Regions for Type 2 Diabetes Reveals a Susceptibility Locus on Human Chromosome 8p23.1. Diabetes
53: 486-491
[Abstract][Full Text]
Harries, L. W., Hattersley, A. T., Ellard, S.
(2004). Messenger RNA Transcripts of the Hepatocyte Nuclear Factor-1{alpha} Gene Containing Premature Termination Codons Are Subject to Nonsense-Mediated Decay. Diabetes
53: 500-504
[Abstract][Full Text]
Maestro, M. A., Boj, S. F., Luco, R. F., Pierreux, C. E., Cabedo, J., Servitja, J. M., German, M. S., Rousseau, G. G., Lemaigre, F. P., Ferrer, J.
(2003). Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Hum Mol Genet
12: 3307-3314
[Abstract][Full Text]
Richter, S., Shih, D. Q., Pearson, E. R., Wolfrum, C., Fajans, S. S., Hattersley, A. T., Stoffel, M.
(2003). Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor-1{alpha}: Haploinsufficiency Is Associated With Reduced Serum Apolipoprotein M Levels. Diabetes
52: 2989-2995
[Abstract][Full Text]
McKinney, J., Cao, H., Behme, M. T., Mahon, J. L., Hegele, R. A.
(2003). Maturity-Onset Diabetes of the Young (MODY) Mutation in Type 2 Diabetes and Latent Autoimmune Diabetes of the Adult. Diabetes Care
26: 3358-3359
[Full Text]
Aguilar-Salinas, C. A., Monroy, O. V., Gomez-Perez, F. J., Chavez, A. G., Esqueda, A. L., Cuevas, V. M., Rull-Rodrigo, J. A., Conyer, R. T.
(2003). Characteristics of Patients With Type 2 Diabetes in Mexico: Results from a large population-based nationwide survey. Diabetes Care
26: 2021-2026
[Abstract][Full Text]
Kulkarni, R. N., Almind, K., Goren, H. J., Winnay, J. N., Ueki, K., Okada, T., Kahn, C. R.
(2003). Impact of Genetic Background on Development of Hyperinsulinemia and Diabetes in Insulin Receptor/Insulin Receptor Substrate-1 Double Heterozygous Mice. Diabetes
52: 1528-1534
[Abstract][Full Text]
Almind, K., Kulkarni, R. N., Lannon, S. M., Kahn, C. R.
(2003). Identification of Interactive Loci Linked to Insulin and Leptin in Mice With Genetic Insulin Resistance. Diabetes
52: 1535-1543
[Abstract][Full Text]
Eeckhoute, J., Moerman, E., Bouckenooghe, T., Lukoviak, B., Pattou, F., Formstecher, P., Kerr-Conte, J., Vandewalle, B., Laine, B.
(2003). Hepatocyte Nuclear Factor 4{alpha} Isoforms Originated from the P1 Promoter Are Expressed in Human Pancreatic {beta}-Cells and Exhibit Stronger Transcriptional Potentials than P2 Promoter-Driven Isoforms. Endocrinology
144: 1686-1694
[Abstract][Full Text]
Lee, Y.-H., Magnuson, M. A., Muppala, V., Chen, S.-S.
(2003). Liver-Specific Reactivation of the Inactivated Hnf-1{alpha} Gene: Elimination of Liver Dysfunction To Establish a Mouse MODY3 Model. Mol. Cell. Biol.
23: 923-932
[Abstract][Full Text]
Bjorkhaug, L., Sagen, J. V., Thorsby, P., Sovik, O., Molven, A., Njolstad, P. R.
(2003). Hepatocyte Nuclear Factor-1{alpha} Gene Mutations and Diabetes in Norway. J. Clin. Endocrinol. Metab.
88: 920-931
[Abstract][Full Text]
Iwasaki, N., Cox, N. J., Wang, Y.-Q., Schwarz, P. E.H., Bell, G. I., Honda, M., Imura, M., Ogata, M., Saito, M., Kamatani, N., Iwamoto, Y.
(2003). Mapping Genes Influencing Type 2 Diabetes Risk and BMI in Japanese Subjects. Diabetes
52: 209-213
[Abstract][Full Text]
Bougneres, P.
(2002). Genetics of Obesity and Type 2 Diabetes: Tracking Pathogenic Traits During the Predisease Period. Diabetes
51: S295-303
[Abstract][Full Text]
Melloul, D., Marshak, S., Cerasi, E.
(2002). Regulation of pdx-1 Gene Expression. Diabetes
51: S320-325
[Abstract][Full Text]
Wang, H., Hagenfeldt-Johansson, K., Otten, L. A., Gauthier, B. R., Herrera, P. L., Wollheim, C. B.
(2002). Experimental Models of Transcription Factor-Associated Maturity-Onset Diabetes of the Young. Diabetes
51: S333-342
[Abstract][Full Text]
Krempler, F., Esterbauer, H., Weitgasser, R., Ebenbichler, C., Patsch, J. R., Miller, K., Xie, M., Linnemayr, V., Oberkofler, H., Patsch, W.
(2002). A Functional Polymorphism in the Promoter of UCP2 Enhances Obesity Risk but Reduces Type 2 Diabetes Risk in Obese Middle-Aged Humans. Diabetes
51: 3331-3335
[Abstract][Full Text]
Dhe-Paganon, S., Duda, K., Iwamoto, M., Chi, Y.-I., Shoelson, S. E.
(2002). Crystal Structure of the HNF4alpha Ligand Binding Domain in Complex with Endogenous Fatty Acid Ligand. J. Biol. Chem.
277: 37973-37976
[Abstract][Full Text]
Pritchard, J. K., Cox, N. J.
(2002). The allelic architecture of human disease genes: common disease-common variant... or not?. Hum Mol Genet
11: 2417-2423
[Abstract][Full Text]
Tanaka, Y., Tran, P. O. T., Harmon, J., Robertson, R. P.
(2002). A role for glutathione peroxidase in protecting pancreatic beta cells against oxidative stress in a model of glucose toxicity. Proc. Natl. Acad. Sci. USA
99: 12363-12368
[Abstract][Full Text]
BERNASSOLA, F., FEDERICI, M., CORAZZARI, M., TERRINONI, A., HRIBAL, M. L., DE LAURENZI, V., RANALLI, M., MASSA, O., SESTI, G., IRWIN MCLEAN, W.H., CITRO, G., BARBETTI, F., MELINO, G.
(2002). Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J.
16: 1371-1378
[Abstract][Full Text]
White, M. F.
(2002). IRS proteins and the common path to diabetes. Am. J. Physiol. Endocrinol. Metab.
283: E413-E422
[Abstract][Full Text]
Wang, H., Chu, W., Das, S. K., Ren, Q., Hasstedt, S. J., Elbein, S. C.
(2002). Liver Pyruvate Kinase Polymorphisms Are Associated With Type 2 Diabetes in Northern European Caucasians. Diabetes
51: 2861-2865
[Abstract][Full Text]
Furuta, H., Furuta, M., Sanke, T., Ekawa, K., Hanabusa, T., Nishi, M., Sasaki, H., Nanjo, K.
(2002). Nonsense and Missense Mutations in the Human Hepatocyte Nuclear Factor-1{beta} Gene (TCF2) and Their Relation to Type 2 Diabetes in Japanese. J. Clin. Endocrinol. Metab.
87: 3859-3863
[Abstract][Full Text]
(associated with MODY 1),4 
, and HNF-4
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