(Q80389636)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280904%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome (English)

1 reference

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31 December 2019

1

1 reference

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31 December 2019

Karen Temple

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280904%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Andrew D Mumford

series ordinal

3

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31 December 2019

publication date

1 October 2004

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280904%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

12

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31 December 2019

issue

10

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31 December 2019

page(s)

790-796

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201252

31 December 2019

exact match

0 references

cites work

Human ferritin H and L sequences lie on ten different chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Regulation of ferritin genes and protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Iron regulatory elements (IREs): a family of mRNA non-coding sequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

IRP-1 Binding to Ferritin mRNA Prevents the Recruitment of the Small Ribosomal Subunit by the Cap-Binding Complex eIF4F

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Differences in the RNA binding sites of iron regulatory proteins and potential target diversity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Identification of a mechanism by which lens epithelial cells limit accumulation of overexpressed ferritin H-chain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Hyperferritinaemia in the absence of iron overload

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

[Hereditary hyperferritinemia-cataract syndrome]

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Hereditary Hyperferritinemia-Cataract Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Loops and bulge/loops in iron-responsive element isoforms influence iron regulatory protein binding. Fine-tuning of mRNA regulation?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201252

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280904%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference