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Article
Open AccessFOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
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 Fox...
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Article
Open AccessGenome-wide association study of susceptibility loci for breast cancer in Sardinian population
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 ...
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Article
Open AccessA role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population
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 B...
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Article
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease
It has recently been demonstrated that the Wilson disease (WD) protein directly interacts with the human homolog of the MURR1 protein in vitro and in vivo, and that this interaction is specific for the copper ...
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Article
Wilson disease mutations associated with uncommon haplotypes in mediterranean patients
This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the...
