Genomes and Genes
- 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...