Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. (Q39102009)

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29 March 2020

title

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

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29 March 2020

0 references

1 reference

1 reference

3

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29 March 2020

Giuseppe Fiermonte

4

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Diva D De León

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author name string

Christine T Ferrara

1

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29 March 2020

Kara E Boodhansingh

2

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29 March 2020

Linda J Steinkrauss

5

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Lisa Swartz Topor

6

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29 March 2020

Jose Bernardo Quintos

7

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29 March 2020

Arupa Ganguly

8

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Ferdinando Palmieri

10

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29 March 2020

Charles A Stanley

11

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29 March 2020

language of work or name

English

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publication date

1 March 2017

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The Journal of Clinical Endocrinology and Metabolism

29 March 2020

published in

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volume

102

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issue

3

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page(s)

942-949

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

29 March 2020

cites work

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Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

17 June 2018

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

17 June 2018

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Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management

17 June 2018

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

17 June 2018

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

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

17 June 2018

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

17 June 2018

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Uncoupling proteins: role in insulin resistance and insulin insufficiency

17 June 2018

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

17 June 2018

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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

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

17 June 2018

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

17 June 2018

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MutationTaster2: mutation prediction for the deep-sequencing age.

17 June 2018

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

21 August 2018

1 reference

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

21 August 2018

1 reference

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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

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29 March 2020

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29 March 2020

PubMed publication ID

27967291

1 reference