Mutation analysis of the ferritin L-chain gene in age-related cataract. (Q34366113)

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17 January 2020

title

Mutation analysis of the ferritin L-chain gene in age-related cataract (English)

1 reference

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17 January 2020

3

Gideon Rechavi

1 reference

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17 January 2020

4

Ninette Amariglio

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17 January 2020

Nitza Goldenberg-Cohen

series ordinal

2

object named as

Nitza Goldenberg-Cohen

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17 January 2020

author name string

Nurit Assia

series ordinal

1

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17 January 2020

Yoram Cohen

series ordinal

5

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17 January 2020

publication date

24 November 2010

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17 January 2020

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17 January 2020

volume

16

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17 January 2020

page(s)

2487-2493

1 reference

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Oxidative stress intensity in lens and aqueous depending on age-related cataract type and brunescense.

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Congenital hereditary cataracts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Hyperferritinaemia without iron overload: pathogenic and therapeutic implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

The heritability of age-related cortical cataract: the twin eye study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Lens biology: development and human cataractogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Hyperferritinaemia in the absence of iron overload

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

The IRE (iron regulatory element) family: structures which regulate mRNA translation or stability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Differential degradation of ferritin H- and L-chains: accumulation of L-chain-rich ferritin in lens epithelial cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Overexpression of H- and L-ferritin subunits in lens epithelial cells: Fe metabolism and cellular response to UVB irradiation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Hereditary Hyperferritinemia-Cataract Syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

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

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2994742

Oxidative stress markers in aqueous humor of patients with senile cataracts

9 December 2018

1 reference

12 December 2020

A new mutation (G51C) in the iron-responsive element (IRE) of l-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins

1 reference

12 December 2020

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G

1 reference

12 December 2020

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

1 reference

12 December 2020

Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

1 reference

12 December 2020

A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome

1 reference

12 December 2020

Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element

1 reference

12 December 2020

Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome

1 reference

12 December 2020

Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family

1 reference

12 December 2020

High-throughput, sensitive and quantitative assay for the detection of BCR-ABL kinase domain mutations

1 reference

12 December 2020

Identifiers

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17 January 2020

PubMed publication ID

21139976

1 reference