Genomes and Genes
- The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activityMara Marongiu
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy
PLoS ONE 5:e9477. 2010..It is intriguing that similar sumoylation and regulatory consequences have also been reported for SOX9, the male counterpart of FOXL2 in somatic gonadal tissues...
- 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...
- 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...
- FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequencesLaura Crisponi
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, CNR, Via Jenner, Cagliari 09121, Italy
Genomics 83:757-64. 2004..The conserved sequences are candidates for models in which they are distant enhancers or otherwise affect higher order chromatin structure to impose long-range cis regulation of FOXL2 expression...
- A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulationSilvia Naitza
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy
PLoS Genet 8:e1002480. 2012..Our results improve the current knowledge of genetic variants underlying inflammation and provide novel clues for the understanding of the molecular mechanisms regulating this complex process...
- 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...
- Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint areaChiara Floris
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c o Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
Eur J Hum Genet 16:696-704. 2008..Breakpoints on chromosomes 8 in both patients do not interrupt any known gene but both map in a region containing the CSMD3 gene, which thereby can be considered as a candidate for ASDs...
- IRAK-M is involved in the pathogenesis of early-onset persistent asthmaLenuta Balaci
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Cagliari, Onserrato, Italy
Am J Hum Genet 80:1103-14. 2007..Our data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma...
- Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy
Hum Mutat 35:424-33. 2014..Therefore, we propose to rename the two overlapping entities with the broader term of Crisponi/CISS1 syndrome. ..