The Arabidopsis thaliana mRNA decay factor PAT1 functions in osmotic stress responses and decaps ABA-responsive genes.

mRNA decapping plays essential roles in regulating gene expression during cellular reprogramming in response to developmental and environmental cues. The evolutionarily conserved PAT1 proteins activate decapping by binding mRNA, recruiting other decapping components, and promoting processing body (PB) assembly. Arabidopsis encodes 3 PAT proteins: PAT1, PATH1, and PATH2.

Mutations in BRIP1 confer high risk of ovarian cancer.

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656).

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.

[Actinomycosis in a 70 year old woman with a forgotten intrauterine contraceptive device].

Actinomycosis is an infectious disease that has been known since the late nineteenth century. In the pre-antibiotic era it was thought to be rather common but with increased use of antimicrobial agents its incidence has decreased significantly. The causative agent, most commonly Actinomyces israelii, is part of the commensal bacterial flora.

BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study.

A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the BRCA1 G5193A and BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991-2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis.