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 …

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 …

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

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 …

Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–
Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL …

Accuracy of pre‐messenger RNA (pre‐mRNA) splicing is crucial for normal gene
expression. Complex regulation supports the spliceosomal distinction between authentic …

Background In recent years, the amount of genomic data produced in clinical genetics
services has increased significantly due to the advent of next-generation sequencing. This …