Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder (Q37761566)

22 August 2017

9 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 November 2019

17 December 2019

6 November 2020

8 April 2021

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

1 reference

22 August 2017

8 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 November 2019

17 December 2019

6 November 2020

iron metabolism disease

8 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 November 2019

17 December 2019

6 November 2020

1 reference

14 September 2019

1 reference

28 November 2019

1 reference

17 December 2019

1 reference

6 November 2020

1 reference

8 April 2021

Martina U Muckenthaler

series ordinal

2

object named as

Martina U Muckenthaler

1 reference

22 August 2017

Gunda Millonig

1

1 reference

22 August 2017

Sebastian Mueller

series ordinal

3

1 reference

22 August 2017

language of work or name

1 reference

1 April 2010

10 references

22 August 2017

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 November 2019

17 December 2019

6 November 2020

8 April 2021

10 references

22 August 2017

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 November 2019

17 December 2019

6 November 2020

8 April 2021

4

1 reference

22 August 2017

4

1 reference

22 August 2017

250-262

1 reference

An E3 ligase possessing an iron-responsive hemerythrin domain is a regulator of iron homeostasis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Control of iron homeostasis by an iron-regulated ubiquitin ligase

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Balancing acts: molecular control of mammalian iron metabolism

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Iron metabolism and the IRE/IRP regulatory system: an update

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Iron regulatory proteins in pathobiology.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hyperferritinaemia in the absence of iron overload

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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")

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A cis-acting element is necessary and sufficient for translational regulation of human ferritin expression in response to iron

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A cytosolic protein binds to structural elements within the iron regulatory region of the transferrin receptor mRNA

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Role of free radicals and catalytic metal ions in human disease: an overview

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Cellular regulation of the iron-responsive element binding protein: disassembly of the cubane iron-sulfur cluster results in high-affinity RNA binding

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Regulated secretion of glycosylated human ferritin from hepatocytes

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Iron and ferritin in inflammation and cancer.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Iron Acquired from Transferrin by K562 Cells Is Delivered into a Cytoplasmic Pool of Chelatable Iron(II)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Regulation of iron metabolism in eukaryotes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A clinical evaluation of serum ferritin as an index of iron stores

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Mechanism of ferritin iron uptake: activity of the H-chain and deletion mapping of the ferro-oxidase site. A study of iron uptake and ferro-oxidase activity of human liver, recombinant H-chain ferritins, and of two H-chain deletion mutants

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary hyperferritinemia cataract syndrome--the first family in Germany

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Secretion of ferritin by iron-laden macrophages and influence of lipoproteins

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

IRP1 activation by extracellular oxidative stress in the perfused rat liver

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

Hereditary Hyperferritinemia-Cataract Syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

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

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525215

A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome

3 December 2018

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

Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome

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

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

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

Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome

1 reference

12 December 2020

A girl with persistent hyperferritinaemia

1 reference

12 December 2020

Iron regulatory protein 1 as a sensor of reactive oxygen species

1 reference

12 December 2020

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE

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

Geschwisterpaar italienischer Abstammung mit Hyperferritin�mie und Katarakt

1 reference

12 December 2020

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

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

Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family

1 reference

12 December 2020

H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload

1 reference

12 December 2020

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

1 reference

12 December 2020

[Hereditary hyperferritinemia syndrome and cataract]

1 reference

12 December 2020

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome

1 reference

12 December 2020

Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin

1 reference

12 December 2020

Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Human serum ferritin G-peptide is recognized by anti-L ferritin subunit antibodies and concanavalin-A

1 reference

12 December 2020

Production and characterization of recombinant heteropolymers of human ferritin H and L chains

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis for the hereditary hyperferritinemia-cataract syndrome

1 reference

12 December 2020

[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]

1 reference

12 December 2020

Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis

1 reference

12 December 2020

[Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL) gene associated with the mutation H63D in the HFE gene]

1 reference

12 December 2020

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

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

Identifiers

1 reference

22 August 2017

PubMed publication ID

20511138

1 reference