Mutations in different components of FGF signaling in LADD syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.     

Small changes in expression affect predisposition to tumorigenesis.

We have used quantitative measures of gene expression to show that constitutional 50% decreases in expression of one adenomatous polyposis coli tumor suppressor gene (APC) allele can lead to the development of familial adenomatous polyposis.     

Survival of a brown dwarf after engulfment by a red giant star

Many sub-stellar companions (usually planets but also some brown dwarfs) orbit solar-type stars. These stars can engulf their sub-stellar companions when they become red giants. This interaction may explain several outstanding problems in astrophysics but it is unclear under what conditions a low mass companion will evaporate, survive the interaction unchanged or gain mass. Observational tests of models for this interaction have been hampered by a lack of positively identified remnants-that is, white dwarf stars with close, sub-stellar companions. The companion to the pre-white dwarf AA Doradus may be a brown dwarf, but the uncertain history of this star and the extreme luminosity difference between the components make it difficult to interpret the observations or to put strong constraints on the models. The magnetic white dwarf SDSS J121209.31 + 013627.7 may have a close brown dwarf companion but little is known about this binary at present. Here we report the discovery of a brown dwarf in a short period orbit around a white dwarf. The properties of both stars in this binary can be directly observed and show that the brown dwarf was engulfed by a red giant but that this had little effect on it.