(Q28116000)

English

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

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scholarly article

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

GOA release 2020-03-11

glucokinase activity

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

Martijn van de Bunt

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

15

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Kevin Colcough

8

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Amy Barrett

9

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Lucia Valentínová

10

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Anne Raimondo

12

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Joseph Grimsby

13

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Nicola L Beer

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Kara K Osbak

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Nicholas D Tribble

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Anna M Steele

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Kirsty J Wensley

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Emma L Edghill

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jana K Rundle

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

0 references

publication date

18 May 2012

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

35

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

7

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1482-1484

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

28 August 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

20 March 2017

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

29 September 2017

Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

29 September 2017

Concordant Glucose Induction of Glucokinase, Glucose Usage, and Glucose-Stimulated Insulin Release in Pancreatic Islets Maintained in Organ Culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

29 September 2017

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

2 June 2018

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

2 June 2018

A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

27 November 2018

Allosteric activators of glucokinase: potential role in diabetes therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

27 November 2018

Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379612

27 November 2018

An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age

1 reference

https://pubmed.ncbi.nlm.nih.gov/22611063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosing monogenic diabetes: common misinterpretations of genetic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/22611063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2337/DC11-2420

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PubMed publication ID

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611063%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

ResearchGate publication ID

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