(Q35559846)

8 August 2017

title

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading (English)

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8 August 2017

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K J Livesey

1

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8 August 2017

V L C Wimhurst

2

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8 August 2017

K Carter

3

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8 August 2017

M Worwood

4

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8 August 2017

E Cadet

5

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8 August 2017

J Rochette

6

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8 August 2017

A G Roberts

7

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8 August 2017

J J Pointon

8

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8 August 2017

A T Merryweather-Clarke

9

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8 August 2017

M L Bassett

10

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8 August 2017

A-M Jouanolle

11

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8 August 2017

A Mosser

12

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8 August 2017

V David

13

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8 August 2017

J Poulton

14

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8 August 2017

K J H Robson

15

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8 August 2017

language of work or name

English

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publication date

1 January 2004

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

41

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8 August 2017

issue

1

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8 August 2017

page(s)

6-10

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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

8 August 2017

cites work

1 reference

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

12 July 2018

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Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

12 July 2018

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The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation

12 July 2018

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Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

12 July 2018

1 reference

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The role of heme and iron-sulfur clusters in mitochondrial biogenesis, maintenance, and decay with age.

12 July 2018

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What regulates mitochondrial DNA copy number in animal cells?

12 July 2018

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Modifier genes in mice and humans

12 July 2018

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Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

12 July 2018

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Tracing European founder lineages in the Near Eastern mtDNA pool

12 July 2018

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Geography of HFE C282Y and H63D mutations

12 July 2018

1 reference

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Genes that modify the hemochromatosis phenotype in mice

12 July 2018

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Role of hypoxia-inducible factor-1 in transcriptional activation of ceruloplasmin by iron deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

12 July 2018

1 reference

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Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

12 July 2018

1 reference

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A common mitochondrial DNA variant is associated with insulin resistance in adult life.

12 July 2018

1 reference

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Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

12 July 2018

1 reference

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The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

12 July 2018

1 reference

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Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

12 July 2018

1 reference

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Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Oxygen-regulated transferrin expression is mediated by hypoxia-inducible factor-1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Global prevalence of putative haemochromatosis mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Haemochromatosis and HLA-H.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Hypoxia alters iron homeostasis and induces ferritin synthesis in oligodendrocytes.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

The clinical features of mitochondrial myopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

Phylogeography of mitochondrial DNA in western Europe

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757237

HFE mutations, iron deficiency and overload in 10,500 blood donors

26 September 2018

1 reference

12 December 2020

Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains

1 reference

12 December 2020

Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people

1 reference

12 December 2020

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis

1 reference

12 December 2020

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

1 reference

12 December 2020

The application of mitochondrial DNA typing to the study of white Caucasian genetic identification

1 reference

12 December 2020

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

1 reference

12 December 2020

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium

1 reference

12 December 2020

Multiple protein-binding sites in the TAS-region of human and rat mitochondrial DNA

1 reference

12 December 2020

Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype?

1 reference

12 December 2020

Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood

1 reference

12 December 2020

A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment

1 reference

12 December 2020

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium

1 reference

12 December 2020

Induction of heme oxygenase-1 by hypoxia and free radicals in human dermal fibroblasts

1 reference

12 December 2020

Transferrin receptor induction by hypoxia. HIF-1-mediated transcriptional activation and cell-specific post-transcriptional regulation

1 reference

12 December 2020

Muscle pain, fatigue, and mitochondriopathies

1 reference

12 December 2020

The role of mitochondria in the regulation of hypoxia-inducible factor 1 expression during hypoxia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2003.008805

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8 August 2017

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8 August 2017

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