Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
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Summary
It is proposed that the old clinical classifications of maturity-onset diabetes of the young and neonatal diabetes are obsolete and that specific genetic etiologies should be sought in four broad clinical situations because of their specific treatment implications.
- Type
- article
- Published
- 2008-02-26
- Cited by
- 513
- References
- 92
- OpenAlex
- https://openalex.org/W18301398
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:22656683
Keywords
Political science, Geography
References
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- Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
- EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
- Mutations in the glucokinase gene of the fetus result in reduced birth weight
- Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells
- Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
- JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
- Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period
- Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
- MODY in Iceland is associated with mutations in HNF-1α and a novel mutation in NeuroD1
- Dietary Composition, Body Weight, and NIDDM: Comparison of high-fiber, high-carbohydrate, and modified-fat diets
- Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: New insights and new treatment
- 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
- A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
- Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
- Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
- Altered Insulin Secretory Responses to Glucose in Diabetic and Nondiabetic Subjects With Mutations in the Diabetes Susceptibility Gene MODY3 on Chromosome 12
- Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism.
Cited by
- The role of pancreatic imaging in monogenic diabetes mellitus
- HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.
- Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.
- Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation
- Demander un diagnostic génétique en diabétologie
- Update in neonatal diabetes
- Differential Effects of HNF-1α Mutations Associated with Familial Young-Onset Diabetes on Target Gene Regulation
- The molecular genetics of insulin secretion and signalling
- Molecular genetics of monogenetic beta-cell diabetes
- Regulation of pancreatic and intestinal endocrine cell differentiation and function : roles of Pak3 and Rfx6
- The role of common genetic variation in model polygenic and monogenic traits
- Diabetes mellitus: The epidemic of the century.
- Human pancreatic glucokinase. Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and GCK-diabetes.
- The past 10 years—new hormones, new functions, new endocrine organs
- Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life
- Heritability of type 2 diabetes and related traits
- Genetics and pathophysiology of neonatal diabetes mellitus
- Emerging type 2 diabetes in young adults.
- Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine‐responsive megaloblastic anaemia
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