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.
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.
Dubbed the 'green yeast', the model alga C. reinhardtii has profoundly advanced many areas of biology, but much remains to be learnt about its life in the wild.
The deer mouse (Peromyscus) has emerged as a model system for studying many aspects of biology, supported by extensive historical knowledge of its fascinating and varied natural history.
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.
Proteasomes are protected from autophagic elimination upon carbon starvation by sequestration into cytoplasmic storage granules, which aid cell fitness by providing a cache of proteasomes that can be rapidly remobilized when carbon availability improves.
Distinct hematopoietic waves interact via transcriptional cascades specific to embryonic hemocytes to ensure the proper immune response in Drosophila..
Selfish wtf meiotic drive genes use overlapping transcripts to encode both a trans-acting poison to kill gametes that do not inherit the gene and a gamete-autonomous antidote to specifically rescue the gametes that do.
