Manila Deiana

TL;DR: A novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins inType II, represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.

TL;DR: It is indicated that BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the β-thalassemia phenotype, and it is likely they could helpAmeliorate other hemoglobin disorders.

TL;DR: Significant evidence for heritability of many medically important traits, including cardiovascular function and personality is found, and evidence for heterogeneity by age and sex suggests that models allowing for these differences will be important in mapping quantitative traits.

TL;DR: It is reported that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent, andFoxl2 disruption provides a model for histogenesis and reproductive competence of the ovary.

TL;DR: A TNFSF13B variant was associated with multiple sclerosis and SLE, and its effects were clarified at the population, cellular, and molecular levels.