Search Results - "SERIE, Daniel J"
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Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes
Published in eLife (08-05-2018)“…Anthracycline-induced cardiotoxicity (ACT) is a key limiting factor in setting optimal chemotherapy regimes, with almost half of patients expected to develop…”
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Clear Cell Type A and B Molecular Subtypes in Metastatic Clear Cell Renal Cell Carcinoma: Tumor Heterogeneity and Aggressiveness
Published in European urology (01-06-2017)“…Abstract Background Intratumor molecular heterogeneity has been reported for primary clear cell renal cell carcinoma (ccRCC) tumors; however, heterogeneity in…”
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3
Transcriptomic analysis to identify genes associated with selective hippocampal vulnerability in Alzheimer’s disease
Published in Nature communications (19-04-2021)“…Selective vulnerability of different brain regions is seen in many neurodegenerative disorders. The hippocampus and cortex are selectively vulnerable in…”
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4
Folate receptor-α (FOLR1) expression and function in triple negative tumors
Published in PloS one (27-03-2015)“…Folate receptor alpha (FOLR1) has been identified as a potential prognostic and therapeutic target in a number of cancers. A correlation has been shown between…”
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5
Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases
Published in Alzheimer's & dementia (01-03-2018)“…Comparative transcriptome analyses in Alzheimer's disease (AD) and other neurodegenerative proteinopathies can uncover both shared and distinct disease…”
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Genome-wide association study of cardiotoxicity in the NCCTG N9831 (Alliance) adjuvant trastuzumab trial
Published in Pharmacogenetics and genomics (01-10-2017)“…The major clinical side effect of the ERBB2-targeted breast cancer therapy, trastuzumab, is a decline in the left ventricular ejection fraction (LVEF)…”
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Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci
Published in Molecular neurodegeneration (09-07-2018)“…Progressive supranuclear palsy (PSP) is a parkinsonian neurodegenerative tauopathy affecting brain regions involved in motor function, including the basal…”
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RNA Sequencing Identifies Multiple Fusion Transcripts, Differentially Expressed Genes, and Reduced Expression of Immune Function Genes in BRAF (V600E) Mutant vs BRAF Wild-Type Papillary Thyroid Carcinoma
Published in The journal of clinical endocrinology and metabolism (01-02-2014)“…Context: The BRAF V600E mutation (BRAF-MUT) confers an aggressive phenotype in papillary thyroid carcinoma, but unidentified additional genomic abnormalities…”
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Alcohol consumption, variability in alcohol dehydrogenase genes and risk of renal cell carcinoma
Published in International journal of cancer (15-02-2018)“…Alcohol consumption has been associated inversely with renal cell carcinoma (RCC) risk; however, no study has examined effect modification by germline…”
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Assessment of Tumor Heterogeneity, as Evidenced by Gene Expression Profiles, Pathway Activation, and Gene Copy Number, in Patients with Multifocal Invasive Lobular Breast Tumors
Published in PloS one (14-04-2016)“…Invasive lobular carcinoma (ILC) comprises approximately ~10-20% of breast cancers. In general, multifocal/multicentric (MF/MC) breast cancer has been…”
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Gene expression, single nucleotide variant and fusion transcript discovery in archival material from breast tumors
Published in PloS one (22-11-2013)“…Advantages of RNA-Seq over array based platforms are quantitative gene expression and discovery of expressed single nucleotide variants (eSNVs) and fusion…”
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12
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia
Published in Blood (26-07-2012)“…We performed a meta-analysis of 3 genome-wide association studies to identify additional common variants influencing chronic lymphocytic leukemia (CLL) risk…”
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13
Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2 + breast cancer samples
Published in BMC cancer (13-07-2018)“…HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. We interrogated the genomic structure of…”
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The antineoplastic drug, trastuzumab, dysregulates metabolism in iPSC-derived cardiomyocytes
Published in Clinical and translational medicine (18-01-2017)“…Background The targeted ERBB2 therapy, trastuzumab, has had a tremendous impact on management of patients with HER2+ breast cancer, leading to development and…”
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Loss of PBRM1 and BAP1 expression is less common in non–clear cell renal cell carcinoma than in clear cell renal cell carcinoma
Published in Urologic oncology (01-01-2015)“…Abstract Background Recurrent mutations in polybromo-1 ( PBRM1 , ~40%) and BRCA1-associated protein-1 ( BAP1 , ~10%) occur in clear cell renal cell carcinoma…”
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NOTCH3 variants and risk of ischemic stroke
Published in PloS one (23-09-2013)“…Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations…”
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Concordance of PD‐1 and PD‐L1 (B7‐H1) in paired primary and metastatic clear cell renal cell carcinoma
Published in Cancer medicine (Malden, MA) (01-02-2020)“…Objectives Previous studies noted discordance of programmed death‐1 (PD‐1) and one of its ligands (PD‐L1) across patient‐matched primary and metastatic clear…”
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Adaptive immune signature in HER2-positive breast cancer in NCCTG (Alliance) N9831 and NeoALTTO trials
Published in NPJ breast cancer (24-05-2022)“…Trastuzumab acts in part through the adaptive immune system. Previous studies showed that enrichment of immune-related gene expression was associated with…”
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Correction: Folate receptor-α (FOLR1) expression and function in triple negative tumors
Published in PloS one (30-04-2015)Get full text
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Association of Genetic Variants at TRPC6 With Chemotherapy-Related Heart Failure
Published in Frontiers in cardiovascular medicine (13-08-2020)“…Our previous GWAS identified genetic variants at six novel loci that were associated with a decline in left ventricular ejection fraction (LVEF), < 1 × 10 in…”
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