Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency (Q24336804)

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2 February 2020

title

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency (English)

1 reference

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Nicotinamide nucleotide transhydrogenase

2 February 2020

main subject

glucocorticoid

0 references

1 reference

reactive oxygen species metabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

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2 February 2020

Luigina Guasti

4

1 reference

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2 February 2020

Peter Frommolt

7

1 reference

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2 February 2020

Paul Chapple

12

1 reference

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2 February 2020

Lou Metherell

15

1 reference

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2 February 2020

14

Adrian J L Clark

1 reference

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2 February 2020

author name string

Eirini Meimaridou

1

1 reference

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2 February 2020

Julia Kowalczyk

2

1 reference

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2 February 2020

Claire R Hughes

5

1 reference

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2 February 2020

Florian Wagner

6

1 reference

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2 February 2020

Peter Nürnberg

8

1 reference

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2 February 2020

Nicholas P Mann

9

1 reference

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2 February 2020

Ritwik Banerjee

10

1 reference

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2 February 2020

H Nurcin Saka

11

1 reference

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2 February 2020

Peter J King

13

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2 February 2020

language of work or name

English

0 references

publication date

27 May 2012

1 reference

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2 February 2020

1 reference

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2 February 2020

volume

44

1 reference

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2 February 2020

page(s)

740-742

1 reference

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2 February 2020

issue

7

1 reference

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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

A comprehensive functional analysis of tissue specificity of human gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Large-scale analysis of the human and mouse transcriptomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

The genetics of familial glucocorticoid deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Adrenocorticotropin resistance syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Nicotinamide nucleotide transhydrogenase: a link between insulin secretion, glucose metabolism and oxidative stress

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

Applications of a rat multiple tissue gene expression data set.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386896

A Caenorhabditis elegans mutant lacking functional nicotinamide nucleotide transhydrogenase displays increased sensitivity to oxidative stress

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2299

A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2299

Silencing of nicotinamide nucleotide transhydrogenase impairs cellular redox homeostasis and energy metabolism in PC12 cells

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2299

Brown adipose tissue mitochondria oxidizing fatty acids generate high levels of reactive oxygen species irrespective of the uncoupling protein-1 activity state.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22634753

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2299

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22634753%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 February 2020

1015797742

0 references

1 reference

2 references

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2 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22634753%20AND%20SRC:MED&resulttype=core&format=json