Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
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Title
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Authors
Keywords
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Journal
Nature Communications
Volume 8, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-10-06
DOI
10.1038/s41467-017-00895-9
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Note: Only part of the references are listed.- Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
- (2017) Himanshu Chheda et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes
- (2016) Maggie Shepherd et al. DIABETES CARE
- Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa
- (2016) Martina Skopkova et al. European Journal of Medical Genetics
- Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population
- (2016) Hanna Huopio et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Genetic Misdiagnoses and the Potential for Health Disparities
- (2016) Arjun K. Manrai et al. NEW ENGLAND JOURNAL OF MEDICINE
- Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
- (2015) Sabrina Prudente et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
- (2015) Francis H Sansbury et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Prevalence of Titin Truncating Variants in General Population
- (2015) Oyediran Akinrinade et al. PLoS One
- Incretin Effect and Glucagon Responses to Oral and Intravenous Glucose in Patients With Maturity-Onset Diabetes of the Young--Type 2 and Type 3
- (2014) S. H. Ostoft et al. DIABETES
- Most People With Long-Duration Type 1 Diabetes in a Large Population-Based Study Are Insulin Microsecretors
- (2014) Richard A. Oram et al. DIABETES CARE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells
- (2014) Vikash Chandra et al. Cell Reports
- Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
- (2013) L. L. Bonnycastle et al. DIABETES
- Secretion of Glucose-Dependent Insulinotropic Polypeptide in Patients With Type 2 Diabetes: Systematic review and meta-analysis of clinical studies
- (2013) S. Calanna et al. DIABETES CARE
- Secretion of glucagon-like peptide-1 in patients with type 2 diabetes mellitus: systematic review and meta-analyses of clinical studies
- (2013) S. Calanna et al. DIABETOLOGIA
- Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
- (2013) S. Ellard et al. DIABETOLOGIA
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
- (2013) David N. Cooper et al. HUMAN GENETICS
- Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation inRFX6
- (2013) Jennifer P Concepcion et al. PEDIATRIC DIABETES
- Transcriptional Regulatory Factor X6 (Rfx6) Increases Gastric Inhibitory Polypeptide (GIP) Expression in Enteroendocrine K-cells and Is Involved in GIP Hypersecretion in High Fat Diet-induced Obesity
- (2012) Kazuyo Suzuki et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
- (2011) Ronen Spiegel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1- /Hepatocyte Nuclear Factor 4- Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes
- (2011) R. E. J. Besser et al. DIABETES CARE
- Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes
- (2011) T. J. McDonald et al. DIABETIC MEDICINE
- Maturity-onset diabetes of the young (MODY): how many cases are we missing?
- (2010) B. M. Shields et al. DIABETOLOGIA
- Rfx6 directs islet formation and insulin production in mice and humans
- (2010) Stuart B. Smith et al. NATURE
- Changes in Insulin Sensitivity and Insulin Release in Relation to Glycemia and Glucose Tolerance in 6,414 Finnish Men
- (2009) A. Stancakova et al. DIABETES
- Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn
- (2009) Dana Martinovici et al. European Journal of Medical Genetics
- A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
- (2008) Louise Chappell et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Learning From Molecular Genetics: Novel Insights Arising From the Definition of Genes for Monogenic and Type 2 Diabetes
- (2008) M. I. McCarthy et al. DIABETES
- Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation
- (2008) R. Murphy et al. DIABETIC MEDICINE
- Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
- (2008) Rinki Murphy et al. Nature clinical practice. Endocrinology & metabolism
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