Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. - Wikidata - awgldk - TriplyDB

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

http://www.wikidata.org/entity/Q30466668

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Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?New insights from monogenic diabetes for "common" type 2 diabetes Undiagnosed MODY: Time for Action Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus Genetic Counseling for Diabetes Mellitus.Downregulation of type II diabetes mellitus and maturity onset diabetes of young pathways in human pancreatic islets from hyperglycemic donors.Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area.What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.What will diabetes genomes tell us?Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Molecular diagnosis of maturity onset diabetes of the young in India.Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.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 Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Pluripotent stem cells as a potential tool for disease modelling and cell therapy in diabetes.Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Monogenic diabetes: Implementation of translational genomic research towards precision medicine.Pdx1 and USF transcription factors co-ordinately regulate Alx3 gene expression in pancreatic β-cells.Genetic Factors of Diabetes.Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.Challenges for molecular diagnosis of familial early-onset diabetes in unexplored populations.Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family.ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective.A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report.A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.Genetic risk scores ascertained in early adulthood and the prediction of type 2 diabetes later in life.A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations.Mutations in HNF1A Gene are not a Common Cause of Familial Young-Onset Diabetes in Iran.Glucokinase mutations in pediatric patients with impaired fasting glucose.Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.

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P2860

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

http://www.wikidata.org/entity/Q30466668

description

2012 nî lūn-bûn

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2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2012 թվականի հունիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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type

label

Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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prefLabel

Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

@ast

Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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Whole-exome sequencing and hig ...... 1 as the thirteenth MODY gene.

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Aurélie Dechaume

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Cécile Lecoeur

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David Le Guilcher

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Emmanuelle Durand

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Franck De Graeve

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Isabelle Fajardy

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Julien Philippe

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Jérôme Delplanque

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Louise Montagne

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P2860

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

A view of sur/KIR6.X, KATP channels

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

Exome sequencing as a tool for Mendelian disease gene discovery

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

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

Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.

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2012-06-11T00:00:00Z

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225376672

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