نتایج جستجو برای: hemojuvelin mutation

تعداد نتایج: 291556  

Journal: :The Journal of biological chemistry 2009
An-Sheng Zhang Fan Yang Jiaohong Wang Hidekazu Tsukamoto Caroline A Enns

Hemojuvelin (HJV) is a glycosylphosphatidylinositol-linked protein and binds both bone morphogenic proteins (BMPs) and neogenin. Cellular HJV acts as a BMP co-receptor to enhance the transcription of hepcidin, a key iron regulatory hormone secreted predominantly by liver hepatocytes. In this study we characterized the role of neogenin in HJV-regulated hepcidin expression. Both HJV and neogenin ...

Journal: :Haematologica 2008
Emilie Camberlein Giuliana Zanninelli Lénaïck Détivaud Anna Rita Lizzi Francesco Sorrentino Stefania Vacquer Marie-Bérengère Troadec Emanuele Angelucci Emmanuelle Abgueguen Olivier Loréal Paolo Cianciulli Maria Eliana Lai Pierre Brissot

Thalassemia associates anemia and iron overload, two opposite stimuli regulating hepcidin gene expression. We characterized hepatic hepcidin expression in 10 thalassemia major and 13 thalassemia intermedia patients. Hepcidin mRNA levels were decreased in the thalassemia intermedia group which presented both lower hemoglobin and higher plasma soluble transferrin receptor levels. There was no rel...

2014
Amanda B. Core Susanna Canali Jodie L. Babitt

Mutations in hemojuvelin (HJV) are the most common cause of the juvenile-onset form of the iron overload disorder hereditary hemochromatosis. The discovery that HJV functions as a co-receptor for the bone morphogenetic protein (BMP) family of signaling molecules helped to identify this signaling pathway as a central regulator of the key iron hormone hepcidin in the control of systemic iron home...

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