Search Results - "Romanel, Alessandro"
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A highly specific SpCas9 variant is identified by in vivo screening in yeast
Published in Nature biotechnology (01-03-2018)“…Evolved SpCas9 variant evoCas9 has improved specificity and retains near wild-type on-target activity. Despite the utility of CRISPR–Cas9 nucleases for genome…”
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Correction: PaCBAM: fast and scalable processing of whole exome and targeted sequencing data
Published in BMC genomics (13-05-2024)Get full text
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EthSEQ: ethnicity annotation from whole exome sequencing data
Published in Bioinformatics (Oxford, England) (01-08-2017)“…Whole exome sequencing (WES) is widely utilized both in translational cancer genomics studies and in the setting of precision medicine. Stratification of…”
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4
Circulating tumor DNA profile recognizes transformation to castration-resistant neuroendocrine prostate cancer
Published in The Journal of clinical investigation (01-04-2020)“…Loss of androgen receptor (AR) signaling dependence occurs in approximately 15%-20% of advanced treatment-resistant prostate cancers, and this may manifest…”
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PaCBAM: fast and scalable processing of whole exome and targeted sequencing data
Published in BMC genomics (26-12-2019)“…Interrogation of whole exome and targeted sequencing NGS data is rapidly becoming a preferred approach for the exploration of large cohorts in the research…”
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6
Hit and go CAS9 delivered through a lentiviral based self-limiting circuit
Published in Nature communications (22-05-2017)“…In vivo application of the CRISPR-Cas9 technology is still limited by unwanted Cas9 genomic cleavages. Long-term expression of Cas9 increases the number of…”
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Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes
Published in Nature communications (24-04-2020)“…Benign prostatic hyperplasia (BPH), a nonmalignant enlargement of the prostate, is among the most common diseases affecting aging men, but the underlying…”
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Tumor clone dynamics in lethal prostate cancer
Published in Science translational medicine (17-09-2014)“…It is unclear whether a single clone metastasizes and remains dominant over the course of lethal prostate cancer. We describe the clonal architectural…”
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A slow-cycling/quiescent cells subpopulation is involved in glioma invasiveness
Published in Nature communications (15-08-2022)“…Pediatric and adult high-grade gliomas are the most common primary malignant brain tumors, with poor prognosis due to recurrence and tumor infiltration after…”
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LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
Published in Nature communications (06-02-2023)“…Spinobulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen receptor gene. Androgen binding to polyQ-expanded androgen receptor triggers…”
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RB1 Heterogeneity in Advanced Metastatic Castration-Resistant Prostate Cancer
Published in Clinical cancer research (15-01-2019)“…Metastatic castration-resistant prostate cancer (mCRPC) is a lethal but clinically heterogeneous disease, with patients having variable benefit from endocrine…”
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One-shot analysis of translated mammalian lncRNAs with AHARIBO
Published in eLife (17-02-2021)“…A vast portion of the mammalian genome is transcribed as long non-coding RNAs (lncRNAs) acting in the cytoplasm with largely unknown functions. Surprisingly,…”
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Plasma tumour DNA as an early indicator of treatment response in metastatic castration-resistant prostate cancer
Published in British journal of cancer (15-09-2020)“…ABSTRACT Background Plasma tumour DNA (ptDNA) levels on treatment are associated with response in a variety of cancers. However, the role of ptDNA in prostate…”
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Third generation EGFR inhibitor osimertinib combined with pemetrexed or cisplatin exerts long-lasting anti-tumor effect in EGFR-mutated pre-clinical models of NSCLC
Published in Journal of experimental & clinical cancer research (28-05-2019)“…The third generation Epidermal Growth Factor Receptor (EGFR) Tyrosine Kinase Inhibitor (TKI) osimertinib has been initially approved for T790M positive…”
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Germline determinants of aberrant signaling pathways in cancer
Published in NPJ precision oncology (01-03-2024)“…Cancer is a complex disease influenced by a heterogeneous landscape of both germline genetic variants and somatic aberrations. While there is growing evidence…”
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Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma
Published in Cell reports (Cambridge) (17-12-2019)“…The transition of neural progenitors to differentiated postmitotic neurons is mainly considered irreversible in physiological conditions. In the present work,…”
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Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers
Published in Frontiers in immunology (22-01-2024)“…The human leukocyte antigen (HLA) system is a major factor controlling cancer immunosurveillance and response to immunotherapy, yet its status in pediatric…”
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Inherited determinants of early recurrent somatic mutations in prostate cancer
Published in Nature communications (29-06-2017)“…Prostate cancer is a highly heritable molecularly and clinically heterogeneous disease. To discover germline events involved in prostate cancer predisposition,…”
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Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors
Published in Cell death & disease (07-12-2020)“…Therapy resistance is a major roadblock in oncology. Exacerbation of molecular dysfunctions typical of cancer cells have proven effective in twisting oncogenic…”
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TranSNPs: A class of functional SNPs affecting mRNA translation potential revealed by fraction-based allelic imbalance
Published in iScience (17-12-2021)“…Few studies have explored the association between SNPs and alterations in mRNA translation potential. We developed an approach to identify SNPs that can mark…”
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