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Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
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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
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
Developmental 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
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
Sandovici, 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
Hepatocyte 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
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
Hong, Y. H., Varanasi, U. S., Yang, W., & Leff, T. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m304112200 · Cited by 220
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
The 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
Suppression 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
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
Flannick, 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
Jänne, M., & Hammond, G. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.51.34105 · Cited by 94
Advancements 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
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
“(5) In humans, HNF4A mutations have been linked to maturity-onset diabetes of young type 1, a monogenic form of type 2 diabetes.(6) In addition to maintaining expression of various genes associated with metabolic processes in liver, several studies have connected reduced HNF4A expression with liver cancer progression.”
BackgroundReynolds, R. M., Jacobsen, G. H., & Drake, A. J. (2013) · Clinical Endocrinology · doi:10.1111/cen.12164 · 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
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
“In principle, we anticipate that reducing gap junction coupling could similarly correct defects in insulin release caused by mutations proximal to [Ca]i influx, including glucokinase (33,34) and genes that regulate mitochondrial function (35,36).”
BackgroundInsights 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., Furuta, H., Oda, N., Kaisaki, P. J., Menzel, S., Cox, N. J., Fajans, S. S., Signorini, S., Stoffel, M., & Bell, G. I.
- Venue
- Nature
- Published
- 1996-12
- Volume
- 384
- Issue
- 6608
- Pages
- 458-460
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2914278830
- Cited by
- 976
- References
- 1
- FWCI
- 50.84
- Type
- journal article
- Language
- en
- Open access
- closed
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