Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation

The von Hippel–Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice

(2010) Michele M. Hickey et al.   JOURNAL OF CLINICAL INVESTIGATION

Regulation of human metabolism by hypoxia-inducible factor

(2010) Federico Formenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effects of Iron Supplementation and Depletion on Hypoxic Pulmonary Hypertension

(2009) Thomas G. Smith et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2  mutation

(2008) D. P. Gale et al.   BLOOD

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis

(2008) M. Martini et al.   HAEMATOLOGICA

A Gain-of-Function Mutation in theHIF2AGene in Familial Erythrocytosis

(2008) Melanie J. Percy et al.   NEW ENGLAND JOURNAL OF MEDICINE