(Q46715449)

English

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

scientific article published on 12 June 2015

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

1 reference

based on heuristic

inferred from title

Ephrat Levy-Lahad

object named as

Ephrat Levy-Lahad

10

0 references

Sharon Zeligson

8

object named as

Sharon Zeligson

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

author name string

Ariella Weinberg-Shukron

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Abdulsalam Abu-Libdeh

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Fouad Zhadeh

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Liran Carmel

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Aviram Kogot-Levin

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Lara Kamal

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Moien Kanaan

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Paul Renbaum

9

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

David Zangen

11

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

language of work or name

0 references

publication date

12 June 2015

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

52

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

9

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

636-641

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Physiological roles of nicotinamide nucleotide transhydrogenase

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Familial glucocorticoid deficiency: New genes and mechanisms

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

A microplate assay for the detection of oxidative products using 2',7'-dichlorofluorescin-diacetate

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Steroid hormone synthesis in mitochondria

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

The role of mitochondrial Ca(2+) and NAD(P)H in the control of aldosterone secretion

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Role of mitochondria in steroidogenesis

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Electron leakage from the adrenal cortex mitochondrial P450scc and P450c11 systems: NADPH and steroid dependence

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Measuring mitochondrial bioenergetics in INS-1E insulinoma cells

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Oxidative stress and adrenocortical insufficiency

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Feedback control of adrenal steroidogenesis via H2O2-dependent, reversible inactivation of peroxiredoxin III in mitochondria.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

OXPHOS gene expression and control in mitochondrial disorders.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103078

21 January 2018

Identifiers

10.1136/JMEDGENET-2015-103078

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/26070314

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q46715449&oldid=2127987014"