(Q36649115)

English

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

scientific article published on 19 February 2013

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scholarly article

1 reference

Europe PubMed Central

15 August 2017

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome (English)

1 reference

Europe PubMed Central

15 August 2017

Martina U Muckenthaler

7

object named as

Martina U Muckenthaler

1 reference

Europe PubMed Central

15 August 2017

author name string

Sara Luscieti

1

1 reference

Europe PubMed Central

15 August 2017

Gabriele Tolle

2

1 reference

Europe PubMed Central

15 August 2017

Jessica Aranda

3

1 reference

Europe PubMed Central

15 August 2017

Carmen Benet Campos

4

1 reference

Europe PubMed Central

15 August 2017

Frank Risse

5

1 reference

Europe PubMed Central

15 August 2017

Érica Morán

6

1 reference

Europe PubMed Central

15 August 2017

Mayka Sánchez

8

1 reference

Europe PubMed Central

15 August 2017

publication date

19 February 2013

1 reference

Europe PubMed Central

15 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

15 August 2017

8

1 reference

Europe PubMed Central

15 August 2017

30

1 reference

Europe PubMed Central

15 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-30

0 references

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

SIREs: searching for iron-responsive elements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

Ferritins: a family of molecules for iron storage, antioxidation and more.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

Iron regulation and the cell cycle: identification of an iron-responsive element in the 3'-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

Balancing acts: molecular control of mammalian iron metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

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")

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

30 September 2017

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

28 June 2018

Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

20 September 2018

C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

20 September 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

20 September 2018

Hereditary Hyperferritinemia-Cataract Syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-30

21 January 2018

Recombinant iron-regulatory factor functions as an iron-responsive-element-binding protein, a translational repressor and an aconitase. A functional assay for translational repression and direct demonstration of the iron switch

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-30

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-30

21 January 2018

Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

21 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585816

4 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Hereditary hyperferritinemia and cataract syndrome: a de novo mutation]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hereditary hyperferritinemia-cataract syndrome: a family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperferritinaemia; laboratory implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/23421845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-8-30

1 reference

Europe PubMed Central

15 August 2017

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0 references

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

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0 references

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