Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. (Q30377611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

James C Barton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Cameron J McDonald

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lyle C. Gurrin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Katie Allen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gregory J Anderson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

12

Deborah A Nickerson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

14

Grant A Ramm

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

7

Justin B Goh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Christine E McLaren

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mary J Emond

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Pradyumna D Phatak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Paul C Adams

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lawrie W Powell

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tin Louie

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gordon D McLaren

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

publication date

18 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

429-439

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

Identification of erythroferrone as an erythroid regulator of iron metabolism

28 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=4508230

A general framework for estimating the relative pathogenicity of human genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

An Update on Iron Homeostasis: Make New Friends, but Keep the Old

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Systemic Iron Homeostasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

How I treat hemochromatosis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Peroxisomes, lipid metabolism and lipotoxicity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

An evaluation of statistical approaches to rare variant analysis in genetic association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Iron-overload-related disease in HFE hereditary hemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

The molecular genetics of haemochromatosis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Hemochromatosis and iron-overload screening in a racially diverse population.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

The penetrance of hereditary hemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Hereditary hemochromatosis--a new look at an old disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Impaired membrane traffic in defective ether lipid biosynthesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Diagnosis and management of hemochromatosis

20 June 2018

1 reference

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

21 January 2018

1 reference

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals

21 January 2018

1 reference

Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis.

21 January 2018

1 reference

Screening for hemochromatosis in asymptomatic subjects with or without a family history

21 January 2018

1 reference

Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity.

21 January 2018

1 reference

Parenteral vs. oral iron: influence on hepcidin signaling pathways through analysis of Hfe/Tfr2-null mice.

21 January 2018

1 reference

A direct approach to false discovery rates

21 January 2018

1 reference

Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia

21 January 2018

1 reference

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

21 January 2018

1 reference

STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo.

21 January 2018

1 reference

Hypoxia induced downregulation of hepcidin is mediated by platelet derived growth factor BB.

21 January 2018

1 reference

Automated high-throughput sex-typing assay

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

Prevalence of heterozygotes for hemochromatosis in the white population of the United States

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4508230

HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants

26 November 2018

1 reference

12 December 2020

Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis

1 reference

12 December 2020

Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Linking hypoxia and iron homeostasis: a ‘plate’ full of factors

1 reference

12 December 2020

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

1 reference

12 December 2020

Identification of New Mutations of the HFE, Hepcidin, and Transferrin Receptor 2 Genes by Denaturing HPLC Analysis of Individuals with Biochemical Indications of Iron Overload

1 reference

12 December 2020

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes

1 reference

12 December 2020

Identifiers

DOI

10.1002/HEP.27711

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

25605615

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json