Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.D172E
Back to variants list

HJV

NM_213653.4:p.D172E

Associated Papers

Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Takami A et al.

Pharmaceuticals (basel, Switzerland), 2020

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Core AB et al.

Frontiers in Pharmacology, 2014

Structure of the repulsive guidance molecule (RGM)-neogenin signaling hub.

Bell CH et al.

Science (new York, N.y.), 2013

The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.

D'Alessio F et al.

Journal of Hepatology, 2012

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Non-HFE hemochromatosis.

Santos PC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

Hemojuvelin-neogenin interaction is required for bone morphogenic protein-4-induced hepcidin expression.

Zhang AS et al.

The Journal of Biological Chemistry, 2009

Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.

Pagani A et al.

Haematologica, 2008

Selective binding of RGMc/hemojuvelin, a key protein in systemic iron metabolism, to BMP-2 and neogenin.

Kuns-Hashimoto R et al.

American Journal of Physiology. Cell Physiology, 2008

Molecular evolution of hemojuvelin and the repulsive guidance molecule family.

Camus LM et al.

Journal of Molecular Evolution, 2007

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.

Silvestri L et al.

Blood, 2007

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Nelson JE et al.

Current Gastroenterology Reports, 2005

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ et al.

Journal of Medical Genetics, 2004

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Lanzara C et al.

Blood, 2004

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."