MODY: history, genetics, pathophysiology, and clinical decision making. - Test2 - elhamkhani - TriplyDB

MODY: history, genetics, pathophysiology, and clinical decision making.

MODY: history, genetics, pathophysiology, and clinical decision making.

http://www.wikidata.org/entity/Q35123359

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Undiagnosed MODY: Time for Action Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.Resting-state functional MR imaging shed insights into the brain of diabetes.Approach to the patient with atypical diabetes.Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case-control study Pathophysiology of type 1 and type 2 diabetes mellitus: a 90-year perspective.Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.A practical guide to genetic engineering of pancreatic β-cells in vivo: getting a grip on RIP and MIP.Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus Personalized medicine in diabetes mellitus: current opportunities and future prospects Genetics of Type 2 Diabetes and Clinical Utility.Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3 Adolescent non-adherence reveals a genetic cause for diabetes Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.An online monogenic diabetes discussion group: supporting families and fueling new research.Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2)Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes.The Drosophila HNF4 nuclear receptor promotes glucose-stimulated insulin secretion and mitochondrial function in adults Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.Genetic diagnosis and treatment of a Chinese ketosis-prone MODY 3 family with depression.Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes The hijacking of cellular signaling and the diabetes epidemic: mechanisms of environmental disruption of insulin action and glucose homeostasis.Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.Potential epigenetic dysregulation of genes associated with MODY and type 2 diabetes in humans exposed to a diabetic intrauterine environment: an analysis of genome-wide DNA methylation The role of pancreatic imaging in monogenic diabetes mellitus.Type 2 diabetes mellitus in children and youth.Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Monogenic diabetes: Implementation of translational genomic research towards precision medicine.Unique Aspects of Cryptochrome in Chronobiology and Metabolism, Pancreatic β-Cell Dysfunction, and Regeneration: Research into Cysteine414-Alanine Mutant CRY1.The Application of Genomics in Diabetes: Barriers to Discovery and Implementation.Cutaneous Manifestations of Diabetes Mellitus: A Review.A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family.Aldehyde dehydrogenase 1a3 defines a subset of failing pancreatic β cells in diabetic mice.ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective.

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MODY: history, genetics, pathophysiology, and clinical decision making.

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2011 nî lūn-bûn

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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2011 թվականի օգոստոսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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MODY: history, genetics, pathophysiology, and clinical decision making.

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MODY: history, genetics, pathophysiology, and clinical decision making.

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MODY: history, genetics, pathophysiology, and clinical decision making.

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Graeme I Bell

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Stefan S Fajans

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Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations

Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

Standards of medical care in diabetes--2010.

Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).

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pathophysiology

maturity-onset diabetes of the young

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3142024

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