(Q37112896)

English

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

scientific article published on 27 January 2009

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

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inferred from title

Edouard Bardou-Jacquet

7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Caroline Kannengiesser

1

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20 January 2020

Anne-Marie Jouanolle

2

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20 January 2020

Gilles Hetet

3

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20 January 2020

Annick Mosser

4

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20 January 2020

Françoise Muzeau

5

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20 January 2020

Dominique Henry

6

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20 January 2020

Martine Mornet

8

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20 January 2020

Pierre Brissot

9

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20 January 2020

Yves Deugnier

10

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20 January 2020

Bernard Grandchamp

11

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20 January 2020

Carole Beaumont

12

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20 January 2020

publication date

27 January 2009

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20 January 2020

1 reference

Europe PubMed Central

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20 January 2020

94

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20 January 2020

3

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20 January 2020

335-339

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Structure of human ferritin L chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

Translational pathophysiology: a novel molecular mechanism of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

Percentage of glycosylated serum ferritin remains low throughout the course of adult onset Still's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 September 2017

The ferritins: molecular properties, iron storage function and cellular regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

14 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=2649359

14 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=2649359

14 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=2649359

14 September 2017

Regulated secretion of glycosylated human ferritin from hepatocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

29 September 2017

Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with 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=2649359

29 September 2017

Ferritin in human tissues and serum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

29 September 2017

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=2649359

3 September 2018

Detection of a glycosylated subunit in human serum ferritin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649359

3 September 2018

A novel deletion of the l-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding of Human Serum Ferritin to Concanavalin A

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid and the microheterogeneity of human serum ferritin

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrophobic cluster analysis: an efficient new way to compare and analyse amino acid sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The efficiency of the uncleaved secretion signal in the plasminogen activator inhibitor type 2 protein can be enhanced by point mutations that increase its hydrophobicity

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of ferritin genes in Parkinson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19176363

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3324/HAEMATOL.2008.000125

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19176363%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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