The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia
Open accessAbstract
Maturity-onset diabetes of the young (MODY) is a monogenic disorder characterized by autosomal dominant inheritance of young-onset (typically <25 years), noninsulin-dependent diabetes due to defective insulin secretion. MODY is both clinically and genetically heterogeneous with mutations in at least 10 genes. Mutations in the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are the most common cause of MODY in most adult populations studied. The number of different pathogenic HNF1A mutations totals 414 in 1,247 families. Mutations in the HNF4A gene encoding hepatocyte nuclear factor-4 alpha are a rarer cause of MODY with 103 different mutations reported in 173 families to date. Sensitivity to treatment with sulfonylurea tablets is a feature of both HNF1A and HNF4A mutations. The HNF4A MODY phenotype has been expanded by the reports of macrosomia in ∼50% of babies, and more rarely, neonatal hyperinsulinemic hypoglycemia. The identification of an HNF1A or HNF4A gene mutation has important implications for clinical management in diabetes and pregnancy, but MODY is significantly underdiagnosed. Current research is focused on identifying biomarkers and developing probability models to identify those patients most likely to have MODY, until next generation sequencing technology enables cost-effective gene analysis for all patients with young onset diabetes.
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Hayhurst, 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
Palmer, J. P., Fleming, G. A., Greenbaum, C. J., Herold, K. C., Jansa, L. D., Kolb, H., Lachin, J. M., Polonsky, K. S., Pozzilli, P., Skyler, J. S., et al. (2004) · Diabetes · doi:10.2337/diabetes.53.1.250 · Cited by 491
Insulin Mutation Screening in 1,044 Patients With Diabetes
Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., et al. (2008) · Diabetes · doi:10.2337/db07-1405 · Cited by 397
Self-citationDefective 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 · cited 2×
“Heterozygous HNF1A and HNF4A mutations are causative of the MODY phenotypes in humans, but mice with defects in a single copy of their Hnf1a or Hnf4a gene do not exhibit the impairments to glucose tolerance and insulin secretion or the renal glycosuria seen in humans, and are phenotypically indistinguishable from thei…”
BackgroundPearson, E. R., Liddell, W. G., Shepherd, M., Corrall, R. J., & Hattersley, A. T. (2000) · Diabetic Medicine · doi:10.1046/j.1464-5491.2000.00305.x · Cited by 259
Steele, A. M., Shields, B. M., Shepherd, M., Ellard, S., Hattersley, A. T., & Pearson, E. R. (2010) · Diabetic Medicine · doi:10.1111/j.1464-5491.2009.02913.x · Cited by 130
Self-citationHigh-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes
McDonald, T. J., Shields, B. M., Lawry, J., Owen, K. R., Gloyn, A. L., Ellard, S., & Hattersley, A. T. (2011) · Diabetes Care · doi:10.2337/dc11-0323 · Cited by 105
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Cited by
Pathophysiology of diabetes: An overview
Sameer, A., Banday, M., & Nissar, S. (2020) · Avicenna Journal of Medicine · doi:10.4103/ajm.ajm_53_20 · Cited by 756
Maturity-onset diabetes of the young (MODY): an update
Anık, A., Çatlı, G., Abacı, A., & Böber, E. (2015) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0384 · Cited by 198
Approach to the patient with mody-monogenic diabetes
Broome, D. T., Pantalone, K. M., Kashyap, S. R., & Philipson, L. H. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa710 · Cited by 159
Novel insights into genetics and clinics of the HNF1A-MODY
Valkovicova, T., Skopkova, M., Stanik, J., & Gasperikova, D. (2019) · Endocrine Regulations · doi:10.2478/enr-2019-0013 · Cited by 84
Qu, M., Qu, H., Jia, Z., & Kay, S. A. (2021) · Nature Communications · doi:10.1038/s41467-021-26567-3 · Cited by 65
Metadata
- Authors
- Colclough, K., Bellanne-Chantelot, C., Saint-Martin, C., Flanagan, S. E., & Ellard, S.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2013-04-02
- Volume
- 34
- Issue
- 5
- Pages
- 669-685
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2083191413
- Cited by
- 224
- References
- 7
- FWCI
- 11.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia. https://app.cochat.ai/papers/10.1002/humu.22279
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- Colclough, K., Bellanne-Chantelot, C., Saint-Martin, C., Flanagan, S. E., & Ellard, S. (2013). Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia. Human Mutation. https://doi.org/10.1002/humu.22279
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