Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL), …

BACKGROUND & AIMS: Trichohepatoenteric syndrome (THES) is an autosomal-recessive
disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease…

Polycystin-1 is a large membrane-associated protein that interacts with polycystin-2 in the
primary cilia of renal epithelial cells to form a mechanosensitive ion channel. Bending of the …

Since user-friendly atomic force microscopes came onto the market a few years ago, scientists
have explored the response of many proteins to applied force. This field has now matured …

Cardiovascular disease is a common comorbidity and cause of mortality in chronic obstructive
pulmonary disease. A better understanding of mechanisms of cardiovascular risk in …

Mechanical unfolding of proteins using atomic force microscopy is becoming a routine
biophysical technique. Mechanistic investigations in this rapidly evolving field are beginning to …

Background Paediatric health systems across high-income countries are facing avoidable
adverse outcomes and increasing demands and costs. The aim of this study was to compare …

Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …

Mutations in the VHL gene lead to von Hippel-Lindau (VHL) disease, a clinically heterogeneous
cancer syndrome. Here, we use software and database tools to understand and predict …

Objective: We sought to calculate accumulated dose (D A ) to the rectum in patients treated
with radiotherapy for prostate cancer. We were particularly interested in whether dose–…