José M. Freije

TL;DR: RD is either a primary or a secondary laminopathy, caused by dominant de novo LMNA mutations or, more frequently, recessive null ZMPSTE24 mutations, most of which lie in a mutation hotspot within exon 9.

TL;DR: The existence of a novel regulatory circuitry involving miR‐29, Ppm1d and p53, which is activated in aging and in response to DNA damage is proposed.

TL;DR: A possible role of apolipoprotein D in progesterone transport is proposed after it was found that all the sequenced tryptic peptides from protein GCDFP-24 matched perfectly with regions present in the amino acid sequence determined for human apoliprotein D.

TL;DR: The findings may help design a first step recurrent mutation panel for screening high-risk breast and/or ovarian cancer families from this specific area, which largely differ from other areas of Spain.

TL;DR: It is reported for the first time that a proportion of Dickkopf (DKK-1) locates within the nucleus of healthy small intestine and colon mucosa, and of CRC cells at specific chromatin sites of active transcription, which support a role of nuclear DKK- 1 as a predictive biomarker of chemoresistance in colorectal cancer.