(Q35432924)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

Walker AP

1

1 reference

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10 December 2019

Wallace DF

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Partridge J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Bomford AB

4

1 reference

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10 December 2019

Dooley JS

5

1 reference

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10 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

10 December 2019

published in

1 reference

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10 December 2019

volume

36

1 reference

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10 December 2019

issue

7

1 reference

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10 December 2019

page(s)

537-541

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

HFE gene knockout produces mouse model of hereditary hemochromatosis

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

HLA-H and associated proteins in patients with 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=1734400

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=1734400

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

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=1734400

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=1734400

beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Two allelic forms of mouse beta 2-microglobulin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Beta 2-microglobulin deficient mice lack CD4-8+ cytolytic T 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=1734400

Normal development of mice deficient in beta 2M, MHC class I proteins, and CD8+ T 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=1734400

Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Relative impact of HLA phenotype and CD4-CD8 ratios on the clinical expression of 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=1734400

A new syndrome of liver iron overload with normal transferrin saturation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734400

Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism

26 September 2018

1 reference

12 December 2020

Familial iron overload with possible autosomal dominant inheritance

1 reference

12 December 2020

Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index

1 reference

12 December 2020

Iron overload in β2-microglobulin-deficient mice

1 reference

12 December 2020

Haemochromatosis as a window into the study of the immunological system: A novel correlation between CD8+ lymphocytes and iron overload

1 reference

12 December 2020

Genetic haemochromatosis. Report of a meeting of physicians and scientists at the Royal Free Hospital School of Medicine

1 reference

12 December 2020

Juvenile and adult hemochromatosis are distinct genetic disorders

1 reference

12 December 2020

A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis

1 reference

12 December 2020

Genetic polymorphism of murineβ 2-microglobulin detected biochemically

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424814%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference