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Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
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Cites
The nuclear receptor superfamily: the second decade
Mangelsdorf, D. J., Thummel, C., Beato, M., Herrlich, P., Schütz, G., Umesono, K., Blumberg, B., Kastner, P., Mark, M., Chambon, P., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90199-x · Cited by 6,964
Cited by
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (2003) · Diabetes Care · doi:10.2337/diacare.26.2007.s5 · Cited by 2,689
Ahlqvist, E., Storm, P., Käräjämäki, A., Martinell, M., Dorkhan, M., Carlsson, A., Vikman, P., Prasad, R. B., Aly, D. M., Almgren, P., et al. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30051-2 · Cited by 2,335
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
DIAGRAM Consortium, Dupuis, J., GIANT Consortium, Global BPgen Consortium, Anders Hamsten on behalf of Procardis Consortium, the MAGIC investigators, Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., et al. (2010) · Nature Genetics · doi:10.1038/ng.520 · Cited by 2,166
Self-citationDevelopmental Origins of the Metabolic Syndrome: Prediction, Plasticity, and Programming
Mcmillen, I. C., & Robinson, J. S. (2005) · Physiological Reviews · doi:10.1152/physrev.00053.2003 · Cited by 1,910
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001) · New England Journal of Medicine · doi:10.1056/nejmra002168 · Cited by 1,123
Self-citationHayhurst, G. P., Lee, Y.-H., Lambert, G., Ward, J. M., & Gonzalez, F. J. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.4.1393-1403.2001 · Cited by 1,107
New IBD genetics: common pathways with other diseases
Lees, C. W., Barrett, J. C., Parkes, M., & Satsangi, J. (2011) · Gut · doi:10.1136/gut.2009.199679 · Cited by 635
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Zhou, J., Theesfeld, C. L., Yao, K., Chen, K. M., Wong, A. K., & Troyanskaya, O. G. (2018) · Nature Genetics · doi:10.1038/s41588-018-0160-6 · Cited by 559
Mammalian hepatocyte differentiation requires the transcription factor HNF-4alpha.
(2000) · PubMed Central · Cited by 489
Edwards, A. M., Isserlin, R., Bader, G. D., Frye, S. V., Willson, T. M., & Yu, F. H. (2011) · Nature · doi:10.1038/470163a · Cited by 411
Schmutz, I., Ripperger, J. A., Baeriswyl-Aebischer, S., & Albrecht, U. (2010) · Genes & Development · doi:10.1101/gad.564110 · Cited by 361
The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110436 · Cited by 329
Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice.
Pontoglio, M., Sreenan, S., Roe, M., Pugh, W., Ostrega, D., Doyen, A., Pick, A. J., Baldwin, A., Velho, G., Froguel, P., et al. (1998) · Journal of Clinical Investigation · doi:10.1172/jci2548 · Cited by 321
Self-citationSandovici, I., Smith, N. H., Nitert, M. D., Ackers-Johnson, M., Uribe-Lewis, S., Ito, Y., Jones, R. H., Marquez, V. E., Cairns, W., Tadayyon, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019007108 · Cited by 326
Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12772 · Cited by 319
Self-citationHepatocyte nuclear factor 4 is a transcription factor that constitutively binds fatty acids
Wisely, G. B., Miller, A. B., Davis, R. G., Thornquest, A. D., Johnson, R., Spitzer, T., Sefler, A., Shearer, B., Moore, J. T., Miller, A. B., et al. (2002) · Structure · doi:10.1016/s0969-2126(02)00829-8 · Cited by 311
Schrem, H., Klempnauer, J., & Borlak, J. (2002) · Pharmacological Reviews · doi:10.1124/pr.54.1.129 · Cited by 283
Simcox, J., Geoghegan, G., Maschek, J. A., Bensard, C. L., Pasquali, M., Miao, R., Lee, S., Jiang, L., Huck, I., Kershaw, E. E., et al. (2017) · Cell Metabolism · doi:10.1016/j.cmet.2017.08.006 · Cited by 277
The diagnosis and management of monogenic diabetes in children and adolescents
Hattersley, A., Bruining, J., Shield, J., Njolstad, P., & Donaghue, K. C. (2009) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2009.00571.x · Cited by 255
The molecular functions of hepatocyte nuclear factors – In and beyond the liver
Lau, H. H., Ng, N. H. J., Loo, L. S. W., Jasmen, J. B., & Teo, A. K. K. (2018) · Journal of Hepatology · doi:10.1016/j.jhep.2017.11.026 · Cited by 250
Genetically engineered pigs as models for human disease
Perleberg, C., Kind, A., & Schnieke, A. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.030783 · Cited by 222
Monosaccharide-induced lipogenesis regulates the human hepatic sex hormone–binding globulin gene
Selva, D. M., Hogeveen, K. N., Innis, S. M., & Hammond, G. L. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32249 · Cited by 232
HNF4A is essential for specification of hepatic progenitors from human pluripotent stem cells
DeLaForest, A., Nagaoka, M., Si-Tayeb, K., Noto, F. K., Konopka, G., Battle, M. A., & Duncan, S. A. (2011) · Development · doi:10.1242/dev.062547 · Cited by 219
Persistent high glucose concentrations alter the regenerative potential of mesenchymal stem cells
Cramer, C., Freisinger, E., Jones, R. K., Slakey, D. P., Dupin, C. L., Newsome, E. R., Alt, E. U., & Izadpanah, R. (2010) · Stem Cells and Development · doi:10.1089/scd.2010.0009 · Cited by 209
Greeley, S. A. W., Polak, M., Njølstad, P. R., Barbetti, F., Williams, R., Castano, L., Raile, K., Chi, D. V., Habeb, A., Hattersley, A. T., et al. (2022) · Pediatric Diabetes · doi:10.1111/pedi.13426 · Cited by 211
Self-citationThe diagnosis and management of monogenic diabetes in children and adolescents
Rubio-Cabezas, O., Hattersley, A. T., Njølstad, P. R., Mlynarski, W., Ellard, S., White, N., Chi, D. V., & Craig, M. E. (2014) · Pediatric Diabetes · doi:10.1111/pedi.12192 · Cited by 196
Self-citationSuppression of Hepatocyte Proliferation by Hepatocyte Nuclear Factor 4α in Adult Mice
Bonzo, J. A., Ferry, C. H., Matsubara, T., Kim, J.-H., & Gonzalez, F. J. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.334599 · Cited by 193
Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats
Fakhrai-Rad, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.14.2149 · Cited by 155
Suppression of β Cell Energy Metabolism and Insulin Release by PGC-1α
Yoon, J. C., Xu, G., Deeney, J. T., Yang, S.-N., Rhee, J., Puigserver, P., Levens, A. R., Yang, R., Zhang, C.-Y., Lowell, B. B., et al. (2003) · Developmental Cell · doi:10.1016/s1534-5807(03)00170-9 · Cited by 143
SRC-1 and GRIP1 Coactivate Transcription with Hepatocyte Nuclear Factor 4
Wang, J.-C., Stafford, J. M., & Granner, D. K. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.47.30847 · Cited by 147
Nuclear receptors as therapeutic targets in cholestatic liver diseases
Zollner, G., & Trauner, M. (2009) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2008.00030.x · Cited by 146
Vaxillaire, M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.583 · Cited by 139
Self-citationFlannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2794 · Cited by 136
Riddle, M. C., Philipson, L. H., Rich, S. S., Carlsson, A., Franks, P. W., Greeley, S. A. W., Nolan, J. J., Pearson, E. R., Zeitler, P. S., & Hattersley, A. T. (2020) · Diabetes Care · doi:10.2337/dci20-0065 · Cited by 117
Self-citationAdvancements and challenges in generating accurate animal models of gestational diabetes mellitus
Pasek, R. C., & Gannon, M. (2013) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00425.2013 · Cited by 90
Purushotham, A., Xu, Q., Lu, J., Foley, J. F., Yan, X., Kim, D.-H., Kemper, J. K., & Li, X. (2012) · Molecular and Cellular Biology · doi:10.1128/mcb.05988-11 · Cited by 87
Bassett, J. H. D., Gogakos, A., White, J. K., Evans, H., Jacques, R. M., van der Spek, A. H., Sanger Mouse Genetics Project, Ramirez-Solis, R., Ryder, E., Sunter, D., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002858 · Cited by 82
Regulation of the human Na+-glucose cotransporter gene,SGLT1, by HNF-1 and Sp1
Martín, M. G., Wang, J., Solorzano-Vargas, R. S., Lam, J. T., Turk, E., & Wright, E. M. (2000) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.2000.278.4.g591 · Cited by 77
HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer
Kalisz, M., Bernardo, E., Beucher, A., Maestro, M. A., del Pozo, N., Millán, I., Haeberle, L., Schlensog, M., Safi, S. A., Knoefel, W. T., et al. (2020) · The EMBO Journal · doi:10.15252/embj.2019102808 · Cited by 77
Mehta, D., Raison, C. L., Woolwine, B. J., Haroon, E., Binder, E. B., Miller, A. H., & Felger, J. C. (2013) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2013.04.004 · Cited by 74
Thakur, A., Wong, J. C. H., Wang, E. Y., Lotto, J., Kim, D., Cheng, J., Mingay, M., Cullum, R., Moudgil, V., Ahmed, N., et al. (2019) · Hepatology · doi:10.1002/hep.30631 · Cited by 68
Reynolds, R. M., Jacobsen, G. H., & Drake, A. J. (2013) · Clinical Endocrinology · doi:10.1111/cen.12164 · Cited by 71
Eeckhoute, J. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh581 · Cited by 71
β‐cell mass in people with type 2 diabetes
Cho, J., Kim, J., Shin, J., Shin, J., & Yoon, K. (2011) · Journal of Diabetes Investigation · doi:10.1111/j.2040-1124.2010.00072.x · Cited by 69
Wallerman, O., Motallebipour, M., Enroth, S., Patra, K., Bysani, M. S. R., Komorowski, J., & Wadelius, C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp823 · Cited by 68
Andreelli, F., Laville, M., Ducluzeau, P.-H., Vega, N., Vallier, P., Khalfallah, Y., Riou, J.-P., & Vidal, H. (1999) · Diabetologia · doi:10.1007/s001250051163 · Cited by 60
Ng, N. H. J., Ghosh, S., Bok, C. M., Ching, C., Low, B. S. J., Chen, J. T., Lim, E., Miserendino, M. C., Tan, Y. S., Hoon, S., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-48647-w · Cited by 57
Searching for maturity-onset diabetes of the young (MODY): when and what for?
Timsit, J., Saint-Martin, C., Dubois-Laforgue, D., & Bellanné-Chantelot, C. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2015.12.005 · Cited by 55
Ng, N. H. J., Jasmen, J. B., Lim, C. S., Lau, H. H., Krishnan, V. G., Kadiwala, J., Kulkarni, R. N., Ræder, H., Vallier, L., Hoon, S., et al. (2019) · iScience · doi:10.1016/j.isci.2019.05.032 · Cited by 54
Lee, S.-H., Veeriah, V., & Levine, F. (2021) · Cell Death & Disease · doi:10.1038/s41419-021-03862-x · Cited by 45
Genetically defined forms of diabetes in children
Taylor, S. I., & Arioglu, E. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.12.6237 · Cited by 38
Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes
Nag, A., Dhindsa, R. S., Mitchell, J., Vasavda, C., Harper, A. R., Vitsios, D., Ahnmark, A., Bilican, B., Madeyski-Bengtson, K., Zarrouki, B., et al. (2022) · Science Advances · doi:10.1126/sciadv.add5430 · Cited by 36
Gender and neurogenin3 influence the pathogenesis of ketosis‐prone diabetes
Louet, J. ‐., Smith, S. B., Gautier, J. ‐., Molokhia, M., Virally, M. ‐., Kevorkian, J. ‐., Guillausseau, P. ‐., Vexiau, P., Charpentier, G., German, M. S., et al. (2008) · Diabetes, Obesity and Metabolism · doi:10.1111/j.1463-1326.2007.00830.x · Cited by 26
Nguyen, L. M., Pozzoli, M., Hraha, T. H., & Benninger, R. K. P. (2014) · Diabetes · doi:10.2337/db13-1048 · Cited by 23
DeForest, N., Kavitha, B., Hu, S., Isaac, R., Krohn, L., Wang, M., Du, X., De Arruda Saldanha, C., Gylys, J., Merli, E., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100339 · Cited by 21
Insights on pathogenesis of type 2 diabetes from MODY genetics
Weedon, M. N., & Frayling, T. M. (2007) · Current Diabetes Reports · doi:10.1007/s11892-007-0022-6 · Cited by 13
Metadata
- Authors
- Yamagata, K., Oda, N., Kaisaki, P. J., Menzel, S., Furuta, H., Vaxillaire, M., Southam, L., Cox, R. D., Lathrop, G. M., Boriraj, V. V., Chen, X., Cox, N. J., Oda, Y., Yano, H., Le Beau, M. M., Yamada, S., Nishigori, H., Takeda, J., Fajans, S. S., Hattersley, A. T., Iwasaki, N., Hansen, T., Pedersen, O., Polonsky, K. S., Turner, R. C., Velho, G., Chèvre, J.-C., Froguel, P., & Bell, G. I.
- Venue
- Nature
- Published
- 1996-12
- Volume
- 384
- Issue
- 6608
- Pages
- 455-458
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2099057503
- Cited by
- 1,614
- References
- 1
- FWCI
- 80.01
- Type
- journal article
- Language
- en
- Open access
- closed
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