CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients (Q36662023)

15 August 2017

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

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15 August 2017

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Stefano Calza

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Alberto Piperno

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Alberto Piperno

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Anna L. Fracanzani

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Anna Ludovica Fracanzani

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author name string

Sara Pelucchi

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15 August 2017

Raffaella Mariani

2

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15 August 2017

Giulia Litta Modignani

5

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15 August 2017

Francesca Bertola

6

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15 August 2017

Fabiana Busti

7

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15 August 2017

Paola Trombini

8

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15 August 2017

Mirella Fraquelli

9

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15 August 2017

Gian Luca Forni

10

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15 August 2017

Domenico Girelli

11

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15 August 2017

Silvia Fargion

12

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15 August 2017

Claudia Specchia

13

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15 August 2017

6 July 2012

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15 August 2017

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15 August 2017

97

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15 August 2017

1818-1825

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15 August 2017

12

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Non-HFE hepatic iron overload

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

A genome-wide association analysis of serum iron concentrations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Iron and the liver: update 2008.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Replicating genotype-phenotype associations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Efficiency and power in genetic association studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Multigenic control of hepatic iron loading in a murine model of hemochromatosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Genes that modify the hemochromatosis phenotype in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Classification and diagnosis of iron overload

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Towards explaining "unexplained hyperferritinemia".

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590088

Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: implications for family screening

20 September 2018

1 reference

12 December 2020

Tumour Necrosis Factor Alpha and Its Promoter Polymorphisms' Role in the Phenotypic Expression of Hemochromatosis

1 reference

12 December 2020

The role of iron in the regulation of hepatic transferrin synthesis

1 reference

12 December 2020

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

1 reference

12 December 2020

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

1 reference

12 December 2020

Haptoglobin modifies the hemochromatosis phenotype in mice

1 reference

12 December 2020

Tumor necrosis factor-alpha -308G>A allelic variant modulates iron accumulation in patients with hereditary hemochromatosis

1 reference

12 December 2020

Effect of the new HJV-L165X mutation on penetrance of HFE

1 reference

12 December 2020

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes

1 reference

12 December 2020

SNP and haplotype analysis reveals new HFE variants associated with iron overload trait

1 reference

12 December 2020

10.3324/HAEMATOL.2012.062661

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DOI

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release_bgt7ol37c5hfxd4qzjhcweb42m

15 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/bgt7ol37c5hfxd4qzjhcweb42m

24 November 2022

mapped directly with Wikidata item

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15 August 2017

1 reference