mutation alters immune system activation, inflammation, and risk of autoimmunity.

Background: Defective alleles within the gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines-cytokine storm.

Objective: The aim of this study was to determine the function of hypomorph g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D).

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.

Background: Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. Mice lacking Foxl2 recapitulate human eyelid/forehead defects and undergo female gonadal dysgenesis. We report here that mice lacking Foxl2 also show defects in postnatal growth and embryonic bone and cartilage formation.

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

Background: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles.

Methods: We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors.

Effect of linseed supplementation of the gestation and lactation diets of dairy ewes on the growth performance and the intramuscular fatty acid composition of their lambs.

In this study, we investigated the effects of maternal gestation and/or lactation diets supplemented with extruded linseed (rich in 18:3n-3) on growth performance and long-chain polyunsaturated faaty acid (PUFA) accumulation in muscle tissues of suckling lambs. A total of 36 dairy ewes were fed a control diet (CON) and a diet containing linseed (LIN) during the last 8 weeks of gestation and/or the first 4 weeks of lactation. The four dietary treatments consisted of the following gestation/lactation feeding treatments: CON/CON, CON/LIN, LIN/LIN or LIN/CON.

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Background: In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated.