Genomes and Genes
- Reproductive aging-associated common genetic variants and the risk of breast cancerChunyan He
Department of Public Health, Indiana University School of Medicine, 980 West Walnut Street, R3 C241, Indianapolis, IN 46202, USA
Breast Cancer Res 14:R54. 2012..Recent genome-wide association studies have identified several novel genetic loci associated with these two traits. However, the association between these loci and breast cancer risk is unknown...
- Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi
Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy
Am J Hum Genet 80:971-81. 2007..We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1...
- A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian populationGrazia Palomba
Istituto Chimica Biomolecolare CNR, Trav La Crucca Baldinca Li Punti, 07100 Sassari, Italy
BMC Cancer 9:245. 2009..The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated...
- Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemiaSerena Sanna
Istituto di Neurogenetica e Neurofarmacologia del Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy
Hum Mol Genet 18:2711-8. 2009..Thus, SLC01B3 appears to be involved in the regulation of serum bilirubin levels in healthy individuals and in some bilirubin-related disorders that are only partially explained by other known gene variants...
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemiaManuela Uda
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
Proc Natl Acad Sci U S A 105:1620-5. 2008..We expect our findings will help to characterize the molecular mechanisms of fetal globin regulation and could eventually contribute to the development of new therapeutic approaches for beta-thalassemia and sickle cell anemia...