| 1 | HNF1A, MODY3, HNF4A, MODY1
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| Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
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| Ellard S, Colclough K.
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| Hum Mutat 27(9):854-69. 2006
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| 2 | HNF4A, HNF1A, MODY1
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| Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
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| Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT.
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| Diabetologia 48(5):878-85. Epub 2005 Apr 14. 2005
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| 3 | HNF4A, MODY1, MODY3, HNF1A
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| Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree.
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| Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU.
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| Nucleic Acids Res 28(2):430-7 2000
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| 4 | MODY1, HNF4A
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| A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young.
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| Moller AM, et al.
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| J Clin Endocrinol Metab 84(1):367-9. 1999
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| 5 | MODY1, HNF4A
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| Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).
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| Navas MA, et al.
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| Diabetes 48(7):1459-65. 1999
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| 6 | MODY1, HNF4A
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| A missense mutation in hepatocyte nuclear factor-4alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.
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| Hani EH, Suaud L, Boutin P, Chevre JC, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, Bell GI, Laine B, Froguel P.
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| J Clin Invest 101(3):521-6. 1998
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| 7 | HNF4A, MODY1
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| MODY1 mutation Q268X in hepatocyte nuclear factor 4alpha allows for dimerization in solution but causes abnormal subcellular localization.
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| Sladek FM, et al.
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| Diabetes 47 : 985-990. 1998
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| 8 | HNF4A, MODY1
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| Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM.
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| Moller AM, Urhammer SA, Dalgaard LT, Reneland R, Berglund L, Hansen T, Clausen JO, Lithell H, Pedersen O.
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| Diabetologia 40(8):980-3. 1997
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| 9 | MODY1, HNF4A
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| Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
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| Lindner T, Gragnoli C, Furuta H, Cockburn BN, Petzold C, Rietzsch H, Weiss U, Schulze J, Bell GI.
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| J Clin Invest 100(6):1400-5. 1997
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| 10 | MODY1, HNF4A
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| Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1).
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| Yamagata K, et al.
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| Nature 384 : 458-460. 1996
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| 11 | MODY1, ADA, CTSA
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| A genetic map of chromosome 20q12-q13.1 : multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.
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| Rothschild CB, et al.
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| Am J Hum Genet 52 : 110-123. 1993
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| 12 | MODY1
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| Linkage analysis of maturity-onset diabetes of the young (MODY) : genetic heterogeneity and nonpenetrance.
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| Bowden DW, et al.
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| Am J Hum Genet 50 : 607-618. 1992
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| 13 | MODY1
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| Genetic markers flanking the maturity onset diabetes of the young locus on human chromosome 20.
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| Bowden DW, et al.
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| Diabetes 41 : 88-92. 1992
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| 14 | PLCG1, MODY1
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| A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20.
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| Rothschild CB, et al.
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| Genomics 13 : 560-564. 1992
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| 15 | MODY1, MODY2
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| Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage ADA or GLUT2 genes in two families.
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| Patel P, et al.
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| Diabetes 41 : 962-967. 1992
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| 16 | MODY1
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| Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q.
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| Bell GI, et al.
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| Proc Natl Acad Sci U S A 88 : 1484-1488. 1991
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| 17 | MODY1, MODY2
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| Mild familial diabetes with dominant inheritance.
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| Tattersall RB.
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| Q J Med 43 : 339-357. 1974
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