Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

doi:10.1053/j.gastro.2015.10.049

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

Gastroenterology - 1 Mar 2016

Daher Raed, Kannengiesser Caroline, Houamel Dounia, Lefebvre Thibaud, Bardou-Jacquet Edouard, Ducrot Nicolas, de Kerguenec Caroline, Jouanolle Anne-Marie, Robreau Anne-Marie, Oudin Claire, Le Gac Gerald, Moulouel Boualem, Loustaud-Ratti Veronique, Bedossa Pierre, Valla Dominique, Gouya Laurent, Beaumont Carole, Brissot Pierre, Puy Hervé, Karim Zoubida, Tchernitchko Dimitri

Abstract excerpt

BACKGROUND & AIMS: Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by defective expression of liver hepcidin, the main regulator of iron homeostasis. Iron stimulates the gene encoding hepcidin (HAMP) via the bone morphogenetic protein (BMP)6 signaling to SMAD. Although several genetic factors have been found to cause late-onset...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, Liquid

Share to Ferritins

Share to Hemochromatosis

Share to Hepcidins

Share to Iron

Share to Opossums

Share to Tandem Mass Spectrometry

Source

Open in PubMed

Identifiers

PMID: 26582087
DOI: 10.1053/j.gastro.2015.10.049

Genes

BMP6
HAMP
SMAD1
SMAD5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.PMID 26582087Read ↗

Identification of new BMP6 pro-peptide mutations in patients with iron overload.Semantic proximity Read ↗

Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.Semantic proximity Read ↗

Defective Bone Morphogenic Protein Signaling Underlies Hepcidin Deficiency in HFE Hereditary HemochromatosisSemantic proximity Read ↗

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individualsSemantic proximity Read ↗

Bone morphogenetic proteins as regulators of iron metabolism.Semantic proximity Read ↗

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.Semantic proximity Read ↗

The serine protease TMPRSS6 is required to sense iron deficiency.Semantic proximity Read ↗

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasisSemantic proximity Read ↗

Role of matriptase-2 (TMPRSS6) in iron metabolism.Semantic proximity Read ↗

Iron-deficiency anemia secondary to mutations in genes controlling hepcidin.Semantic proximity Read ↗

The Molecular Pathogenesis of Hereditary HemochromatosisSemantic proximity Read ↗

Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.