Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry (Q51287966)

From Wikidata

Jump to navigation Jump to search

scientific article published on 2 December 2016

Language	Label	Description	Also known as
English	Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry	scientific article published on 2 December 2016

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

8

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Pål R Njølstad

13

object named as

Pål R Njølstad

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

11

object named as

Anders Molven

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

Stefan Johansson

12

object named as

Stefan Johansson

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

Pétur Júlíusson

6

object named as

Petur B Juliusson

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

10

object named as

Geir Joner

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

Torild Skrivarhaug

9

object named as

Torild Skrivarhaug

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

7

object named as

Oddmund Søvik

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Ingvild Aukrust

5

object named as

Ingvild Aukrust

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Bente B Johansson

1

object named as

Bente B Johansson

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

3

object named as

Janne Molnes

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

author name string

Henrik U Irgens

2

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Paweł Sztromwasser

4

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

publication date

2 December 2016

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

60

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

4

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

625-635

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Genetic cause of hyperglycaemia and response to treatment in diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Glucokinase MODY and implications for treatment goals of common forms of diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Incidence of type 1 diabetes in Norway among children aged 0-14 years between 1989 and 2012: has the incidence stopped rising? Results from the Norwegian Childhood Diabetes Registry.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Growth references for 0-19 year-old Norwegian children for length/height, weight, body mass index and head circumference

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Choice of transcripts and software has a large effect on variant annotation

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Novel mutations and a mutational hotspot in the MODY3 gene

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

The diagnosis and management of monogenic diabetes in children and adolescents

1 reference

https://api.crossref.org/works/10.1007%2FS00125-016-4167-1

21 January 2018

Role of molecular genetics in transforming diagnosis of diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG?CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1?) gene which causes maturity-onset diabetes of the young (MODY)

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X)

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27913849

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00125-016-4167-1

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 April 2018

http://europepmc.org/abstract/MED/27913849

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51287966&oldid=2272303439"