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About 106 results

ALLMedicine™ Ferroportin Disease Center

Research & Reviews  53 results

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis ty...
https://doi.org/10.1016/j.bcmd.2020.102527
Blood Cells, Molecules & Diseases; Le Tertre M, Ka C et. al.

Dec 20th, 2020 - Hemochromatosis type 4, or ferroportin disease, is considered as the second leading cause of primary iron overload after HFE-related hemochromatosis. The disease, which is predominantly associated with missense variations in the SLC40A1 gene, is c...

Reduced iron export associated with hepcidin resistance can explain the iron overload s...
https://doi.org/10.1111/liv.14539
Liver International : Official Journal of the Internation... Viveiros A, Panzer M et. al.

May 25th, 2020 - Ferroportin disease (FD) and hemochromatosis type 4 (HH4) are associated with variants in the ferroportin-encoding gene SLC40A1. Both phenotypes are characterized by iron overload despite being caused by distinct variants that either mediate reduc...

Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease?
https://doi.org/10.1111/liv.14061
Liver International : Official Journal of the Internation... Viveiros A, Schaefer B et. al.

May 24th, 2019 - Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease?|2019|Viveiros A,Schaefer B,Tilg H,Zoller H,|

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent caus...
https://doi.org/10.1111/liv.14013
Liver International : Official Journal of the Internation... Zhang W, Xu A et. al.

Nov 30th, 2018 - Haemochromatosis type 4, also known as ferroportin disease, is an autosomal dominant genetic disorder caused by pathogenic mutations in the SLC40A1 gene, which encodes ferroportin 1 (FPN1). We have identified a novel SLC40A1 p.Y333H mutation in ou...

Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278966
Haematologica Vlasveld LT, Swinkels DW

Nov 1st, 2018 - Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.|2018|Vlasveld LT,Swinkels DW,|deficiency,genetics,metabolism,drug therapy,metabolism,pathology,

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Clinicaltrials.gov  53 results

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis ty...
https://doi.org/10.1016/j.bcmd.2020.102527
Blood Cells, Molecules & Diseases; Le Tertre M, Ka C et. al.

Dec 20th, 2020 - Hemochromatosis type 4, or ferroportin disease, is considered as the second leading cause of primary iron overload after HFE-related hemochromatosis. The disease, which is predominantly associated with missense variations in the SLC40A1 gene, is c...

Reduced iron export associated with hepcidin resistance can explain the iron overload s...
https://doi.org/10.1111/liv.14539
Liver International : Official Journal of the Internation... Viveiros A, Panzer M et. al.

May 25th, 2020 - Ferroportin disease (FD) and hemochromatosis type 4 (HH4) are associated with variants in the ferroportin-encoding gene SLC40A1. Both phenotypes are characterized by iron overload despite being caused by distinct variants that either mediate reduc...

Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease?
https://doi.org/10.1111/liv.14061
Liver International : Official Journal of the Internation... Viveiros A, Schaefer B et. al.

May 24th, 2019 - Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease?|2019|Viveiros A,Schaefer B,Tilg H,Zoller H,|

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent caus...
https://doi.org/10.1111/liv.14013
Liver International : Official Journal of the Internation... Zhang W, Xu A et. al.

Nov 30th, 2018 - Haemochromatosis type 4, also known as ferroportin disease, is an autosomal dominant genetic disorder caused by pathogenic mutations in the SLC40A1 gene, which encodes ferroportin 1 (FPN1). We have identified a novel SLC40A1 p.Y333H mutation in ou...

Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278966
Haematologica Vlasveld LT, Swinkels DW

Nov 1st, 2018 - Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.|2018|Vlasveld LT,Swinkels DW,|deficiency,genetics,metabolism,drug therapy,metabolism,pathology,

see more →