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Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance.Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing.A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.The genotypic false positive rate determined by V3 population sequencing can predict the burden of HIV-1 CXCR4-using species detected by pyrosequencing.Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor variants in reverse transcriptase and hepatitis B S antigen.Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populationsHIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I.Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.Role of the linker domain and the 203-214 N-terminal residues in the human topoisomerase I DNA complex dynamics.Ultra-deep sequencing reveals hidden HIV-1 minority lineages and shifts of viral population between the main cellular reservoirs of the infection after therapy interruption.A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.Use of massive parallel pyrosequencing for near full-length characterization of a unique HIV Type 1 BF recombinant associated with a fatal primary infection.Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Analysis of co-receptor usage of circulating viral and proviral HIV genome quasispecies by ultra-deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment.Archived HIV-1 minority variants detected by ultra-deep pyrosequencing in provirus may be fully replication competent.Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.Comparison of real-time PCR methods for measurement of HIV-1 proviral DNA.'Sentinel' mutations in standard population sequencing can predict the presence of HIV-1 reverse transcriptase major mutations detectable only by ultra-deep pyrosequencing.Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infectionLow‐Abundance Drug Resistance Mutations: Extending the HIV Paradigm to Hepatitis B VirusACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population
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description
hulumtues
@sq
onderzoeker
@nl
researcher
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հետազոտող
@hy
name
Alessandro Bruselles
@ast
Alessandro Bruselles
@en
Alessandro Bruselles
@es
Alessandro Bruselles
@nl
Alessandro Bruselles
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type
label
Alessandro Bruselles
@ast
Alessandro Bruselles
@en
Alessandro Bruselles
@es
Alessandro Bruselles
@nl
Alessandro Bruselles
@sl
prefLabel
Alessandro Bruselles
@ast
Alessandro Bruselles
@en
Alessandro Bruselles
@es
Alessandro Bruselles
@nl
Alessandro Bruselles
@sl
P1053
M-7908-2017
P106
P21
P31
P3829
P496
0000-0002-1556-4998