Andrea Angius

@article{pmid33171872,

title = {Modulatory Role of microRNAs in Triple Negative Breast Cancer with Basal-Like Phenotype},

author = { },

year  = {2020},

date = {2020-11-01},

journal = {Cancers (Basel)},

volume = {12},

number = {11},

abstract = {Development of new research, classification, and therapeutic options are urgently required due to the fact that TNBC is a heterogeneous malignancy. The expression of high molecular weight cytokeratins identifies a biologically and clinically distinct subgroup of TNBCs with a basal-like phenotype, representing about 75% of TNBCs, while the remaining 25% includes all other intrinsic subtypes. The triple negative phenotype in basal-like breast cancer (BLBC) makes it unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies; for this reason, only chemotherapy can be considered an approach available for systemic treatment even if it shows poor prognosis. Therefore, treatment for these subgroups of patients is a strong challenge for oncologists due to disease heterogeneity and the absence of unambiguous molecular targets. Dysregulation of the cellular miRNAome has been related to huge cellular process deregulations underlying human malignancy. Consequently, epigenetics is a field of great promise in cancer research. Increasing evidence suggests that specific miRNA clusters/signatures might be of clinical utility in TNBCs with basal-like phenotype. The epigenetic mechanisms behind tumorigenesis enable progress in the treatment, diagnosis, and prevention of cancer. This review intends to summarize the epigenetic findings related to miRNAome in TNBCs with basal-like phenotype.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31949199,

title = {Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma},

author = {G Pira and P Uva and A M Scanu and P C Rocca and L Murgia and E Uleri and C Piu and A Porcu and C Carru and A Manca and I Persico and M R Muroni and F Sanges and C Serra and A Dolei and A Angius and M R De Miglio},

year  = {2020},

date = {2020-01-01},

journal = {Sci Rep},

volume = {10},

number = {1},

pages = {432},

abstract = {We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression profiling on identification of molecular targets. We performed transcriptome on 16 primary coupled CRC and NTC tissues. We identified pathways and networks related to pathophysiology of CRC and selected potential therapeutic targets. CRC cells have multiple ways to reprogram its transcriptome: a functional enrichment analysis in 285 genes, 25% mutated, showed that they control the major cellular processes known to promote tumorigenesis. Among the genes showing alternative splicing, cell cycle related genes were upregulated (CCND1, CDC25B, MCM2, MCM3), while genes involved in fatty acid metabolism (ACAAA2, ACADS, ACAT1, ACOX, CPT1A, HMGCS2) were downregulated. Overall 148 genes showed differential splicing identifying 17 new isoforms. Most of them are involved in the pathogenesis of CRC, although the functions of these variants remain unknown. We identified 2 in-frame fusion events, KRT19-KRT18 and EEF1A1-HSP90AB1, encoding for chemical proteins in two CRC patients. We draw a functional interactome map involving integrated multiple genomic features in CRC. Finally, we underline that two functional cell programs are prevalently deregulated and absolutely crucial to determinate and sustain CRC phenotype.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965099PMC6965099] [DOI:hrefhttps://dx.doi.org/10.1038/s41598-019-57311-z10.1038/s41598-019-57311-z] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2548054825480548]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Angius2019,

title = {Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP},

author = {Angius, A. and Uva, P. and Oppo, M. and Persico, I. and Onano, S. and Olla, S. and Pes, V. and Perria, C. and Cuccuru, G. and Atzeni, R. and Serra, G. and Cucca, F. and Sotgiu, S. and Hennekam, R. C. and Crisponi, L. },

year  = {2019},

date = {2019-01-01},

volume = {179},

number = {4},

pages = {634--638},

abstract = {We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype-phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300.},

note = {[DOI:hrefhttps://dx.doi.org/10.1002/ajmg.a.6105210.1002/ajmg.a.61052] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3073788730737887]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid29625027,

title = {Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.},

author = {Angius, A. and Uva, P. and Buers, I. and Oppo, M. and Puddu, A. and Onano, S. and Persico, I. and Loi, A. and Marcia, L. and H?hne, W. and Cuccuru, G. and Fotia, G. and Deiana, M. and Marongiu, M. and Atalay, H. T. and Inan, S. and El Assy, O. and Smit, L. M. E. and Okur, I. and Boduroglu, K. and Utine, G. E. and Kılıç, E. and Zampino, G. and Crisponi, G. and Crisponi, L. and Rutsch, F. },

year  = {2018},

date = {2018-01-01},

volume = {102},

number = {4},

pages = {713},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid28394350,

title = {Population- and individual-specific regulatory variation in Sardinia},

author = { M. Pala and Z. Zappala and M. Marongiu and X. Li and J. R. Davis and R. Cusano and F. Crobu and K. R. Kukurba and M. J. Gloudemans and F. Reinier and R. Berutti and M. G. Piras and A. Mulas and M. Zoledziewska and M. Marongiu and E. P. Sorokin and G. T. Hess and K. S. Smith and F. Busonero and A. Maschio and M. Steri and C. Sidore and S. Sanna and E. Fiorillo and M. C. Bassik and S. J. Sawcer and A. Battle and J. Novembre and C. Jones and A. Angius and G. R. Abecasis and D. Schlessinger and F. Cucca and S. B. Montgomery},

year  = {2017},

date = {2017-05-01},

journal = {Nat Genet},

volume = {49},

number = {5},

pages = {700--707},

abstract = {Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{francalacci_low-pass_2013,

title = {Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny},

author = {Paolo Francalacci and Laura Morelli and Andrea Angius and Riccardo Berutti and Frederic Reinier and Rossano Atzeni and Rosella Pilu and Fabio Busonero and Andrea Maschio and Ilenia Zara and Daria Sanna and Antonella Useli and Maria Francesca Urru and Marco Marcelli and Roberto Cusano and Manuela Oppo and Magdalena Zoledziewska and Maristella Pitzalis and Francesca Deidda and Eleonora Porcu and Fausto Poddie and Hyun Min Kang and Robert Lyons and Brendan Tarrier and Jennifer Bragg Gresham and Bingshan Li and Sergio Tofanelli and Santos Alonso and Mariano Dei and Sandra Lai and Antonella Mulas and Michael B Whalen and Sergio Uzzau and Chris Jones and David Schlessinger and Gon{ç}alo R Abecasis and Serena Sanna and Carlo Sidore and Francesco Cucca},

doi = {10.1126/science.1237947},

issn = {1095-9203},

year  = {2013},

date = {2013-08-01},

journal = {Science (New York, N.Y.)},

volume = {341},

number = {6145},

pages = {565--569},

abstract = {Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing of 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 of which have not previously been observed. We constructed a MSY phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters within each haplogroup. The tree was calibrated with archaeological data from the initial expansion of the Sardinian population textasciitilde7700 years ago. The ages of nodes highlight different genetic strata in Sardinia and reveal the presumptive timing of coalescence with other human populations. We calculate a putative age for coalescence of textasciitilde180,000 to 200,000 years ago, which is consistent with previous mitochondrial DNA-based estimates.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}