(Q39102009)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

title

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

0 references

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Giuseppe Fiermonte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Diva D De León

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

author name string

Christine T Ferrara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Kara E Boodhansingh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Linda J Steinkrauss

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Lisa Swartz Topor

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Jose Bernardo Quintos

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Arupa Ganguly

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Ferdinando Palmieri

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Charles A Stanley

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

language of work or name

English

0 references

publication date

1 March 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

29 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

page(s)

942-949

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

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

29 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

The Shape of the Glucose Response Curve During an Oral Glucose Tolerance Test Heralds Biomarkers of Type 2 Diabetes Risk in Obese Youth.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

A method and server for predicting damaging missense mutations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Uncoupling proteins: role in insulin resistance and insulin insufficiency

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Beta-cell function, insulin sensitivity, and glucose tolerance in obese diabetic and nondiabetic adolescents and young adults

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, beta cell dysfunction, and type 2 diabetes.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Increased uncoupling protein-2 levels in beta-cells are associated with impaired glucose-stimulated insulin secretion: mechanism of action

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

MutationTaster2: mutation prediction for the deep-sequencing age.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Assessing the shape of the glucose curve during an oral glucose tolerance test

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460685

Uncoupling protein-2 contributes significantly to high mitochondrial proton leak in INS-1E insulinoma cells and attenuates glucose-stimulated insulin secretion

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27967291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Shape of glucose, insulin, C-peptide curves during a 3-h oral glucose tolerance test: any relationship with the degree of glucose tolerance?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27967291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2016-3164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27967291%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference