ArticleThe Journal of clinical investigation1997
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 81 citations in OpenAlex.
- Differing MODY subtypes in a single family: A case report on monogenic diabetes, a CARE-compliant article.Medicine · 2025Article
- Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.Diabetes · 2022Article
- Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.Frontiers in endocrinology · 2022Article
- Crosstalk of HNF4Acta pharmaceutica Sinica. B · 2016Review
- Transcriptional Regulation of X-Box-binding Protein One (XBP1) by Hepatocyte Nuclear Factor 4α (HNF4Α) Is Vital to Beta-cell Function.The Journal of biological chemistry · 2016Article
- Transcriptional Factors Mediating Retinoic Acid Signals in the Control of Energy Metabolism.International journal of molecular sciences · 2015Review
- Localization of hepatocyte nuclear factor-4α in the nucleolus and nucleus is regulated by its C-terminus.Journal of diabetes investigation · 2012Article
- The role of pancreatic imaging in monogenic diabetes mellitus.Nature reviews. Endocrinology · 2011Review
- Examination of Rare Variants in HNF4 α in European Americans with Type 2 Diabetes.Journal of diabetes & metabolism · 2011Article
- Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene.Journal of endocrinological investigation · 2011Article
- Pancreatic function in carboxyl-ester lipase knockout mice.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2010Article
- Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.Diabetologia · 2006Article
- [Molecular diagnosis of diabetes mellitus].Der Internist · 2006Review
- Genetic epidemiology of diabetes.The Journal of clinical investigation · 2005Review
- Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.Diabetologia · 2005Article
- T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects.Diabetologia · 2003Article
- Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree.Nucleic acids research · 2000Article
- Modulation of transcriptional activation and coactivator interaction by a splicing variation in the F domain of nuclear receptor hepatocyte nuclear factor 4alpha1.Molecular and cellular biology · 1999Article
- Differentiating Among Type 1, Type 2 Diabetes, and MODY: Raising Awareness About the Clinical Implementation of Genetic Testing in Latin America.AACE clinical case reportsArticle
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic disorder characterized by autosomal dominant inheritance, onset usually before 25 yr of age, and abnormal pancreatic beta-cell function. Mutations in the hepatocyte nuclear factor(HNF)-4alpha/MODY1, glucokinase/MODY2, and HNF-1alpha/MODY3 genes can cause this form of diabetes. In contrast to the glucokinase and HNF-1alpha genes, mutations in the HNF-4alpha gene are a relatively uncommon cause of MODY, and our understanding of the MODY1 form of diabetes is based on studies of only a single family, the R-W pedigree. Here we report the identification of a second family with MODY1 and the first in which there has been a detailed characterization of hepatic function. The affected members of this family, Dresden-11, have inherited a nonsense mutation, R154X, in the HNF-4alpha gene, and are predicted to have reduced levels of this transcription factor in the tissues in which it is expressed, including pancreatic islets, liver, kidney, and intestine. Subjects with the R154X mutation exhibited a diminished insulin secretory response to oral glucose. HNF-4alpha plays a central role in tissue-specific regulation of gene expression in the liver, including the control of synthesis of proteins involved in cholesterol and lipoprotein metabolism and the coagulation cascade. Subjects with the R154X mutation, however, showed no abnormalities in lipid metabolism or coagulation except for a paradoxical 3.3-fold increase in serum lipoprotein(a) levels, nor was there any evidence of renal dysfunction in these subjects. The results suggest that MODY1 is primarily a disorder of beta-cell function.
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