Human survival is dependent upon the continuous delivery of O2 to each cell in the body in
sufficient amounts to meet metabolic requirements, primarily for ATP generation by oxidative …

Hypoxia-induced alternative splicing is a potent driving force in tumour pathogenesis and
progression. In this review, we update currents concepts of hypoxia-induced alternative …

To maximize the impact of precision medicine approaches, it is critical to identify genetic
variants underlying disease and to accurately quantify their functional effects. A gene …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Disease Overview JAK2 unmutated or non‐polycythemia vera (PV) erythrocytosis
encompasses a heterogenous spectrum of hereditary and acquired entities. Diagnosis …

JAK2 unmutated or non-polycythemia vera (PV) erythrocytosis encompasses both hereditary
and acquired conditions. A systematic diagnostic approach begins with documentation of …

Importance Because accurate and consistent classification of DNA sequence variants is
fundamental to germline genetic testing, understanding patterns of initial variant …

Identification of the underlying defects in congenital erythrocytosis has provided mechanistic
insights into the regulation of erythropoiesis and oxygen homeostasis. The Hypoxia …

Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease
caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical …

The identification of the VHL gene and its role in regulating the hypoxia-inducible factor
signaling pathway has helped to revolutionize the treatment of renal cell carcinoma (RCC) …