(Q48169448)

http://europepmc.org/abstract/MED/28681398

9 February 2018

title

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

Michael N Weedon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

Richard Caswell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

Sian Ellard

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

Sarah Flanagan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

author name string

Khalid Hussain

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

publication date

5 July 2017

1 reference

http://europepmc.org/abstract/MED/28681398

9 February 2018

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

page(s)

1442-1444

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

12 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Familial hyperinsulinism caused by an activating glucokinase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Genetics of neonatal hyperinsulinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23289

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28681398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.23289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6815675&resulttype=core&format=json

12 May 2020

1 reference