Browse our latest Human Biology and Medicine articles

Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.

This work validates PIP4K gamma as pharmacological target to ameliorate Huntington's disease.

Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.

While acute senescence of decidualizing cells drives the inflammatory response underpinning uterine receptivity, subsequent clearance by activated natural killer cells transiently rejuvenates the cycling endometrium, enabling transition into a gestational tissue upon embryo implantation.

A cellular-level in vivo investigative method that provides unprecedented insights into the dynamics of neuronal activities evoked by transcranial magnetic stimulation.

Epigenetic profiling of femoral growth plate chondrocytes helps whittle-down GWAS height variants to fewer putative functional variants.

Inhibition of serotonin transporter activity, by fluoxetine treatment, in early post-natal life induces persistent apnea in wild-type mice but restores normal breathing in Necdin-KO pups that reproduce breathing abnormalities observed in Prader-Willi syndrome.

Lack of reperfusion of cardiac capillaries, when an upstream artery is unblocked following heart attack, reflects contractile pericytes constricting capillaries and preventing blood flow, implying that cardiac pericytes are a therapeutic target for treating cardiac ischaemia.

Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.

Tyrosine phosphorylation of the intracellular domain of LRP1 serves as a molecular switch to regulate cellular cholesterol homeostasis through nuclear hormone receptor-mediated regulation of the cellular cholesterol exporter ABCA1.