Ute I Scholl, Gabriel Stölting ... Richard P Lifton
A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
Alison F Feder, Kristin N Harper ... Pleuni S Pennings
In triple-drug-treated HIV, partially resistant viruses can spread and resistance to specific drugs evolves in a predictable order, potentially a result of spatial or temporal heterogeneity in drug concentrations.
Andrew T Timberlake, Jungmin Choi ... Richard P Lifton
Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
Antoine Guérin, Gaspard Kerner ... Jean-Laurent Casanova
Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by
Tropheryma whipplei.
Out breeding depression in Caenorhabditis tropicalis is due to common maternal-offspring incompatibilities that interact with a highly heterogeneous genetic background and may provide a short-term advantage to inbreeding.