Search Results - "Horvath, Anelia"
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Dysregulated metabolic pathways in age-related macular degeneration
Published in Scientific reports (12-02-2020)“…Age-related macular degeneration is a major cause of vision impairment in the Western world among people of 55 years and older. Recently we have shown that…”
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Clinical and Molecular Genetics of the Phosphodiesterases (PDEs)
Published in Endocrine reviews (01-04-2014)“…Cyclic nucleotide phosphodiesterases (PDEs) are enzymes that have the unique function of terminating cyclic nucleotide signaling by catalyzing the hydrolysis…”
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3
Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells
Published in PLoS pathogens (01-07-2019)“…HIV infection has a profound effect on "bystander" cells causing metabolic co-morbidities. This may be mediated by exosomes secreted by HIV-infected cells and…”
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4
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
Published in The New England journal of medicine (18-12-2014)“…A duplicated segment of the X chromosome causes pediatric gigantism through increased levels of growth hormone. A gene in the duplicated region that encodes a…”
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SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data
Published in BMC genomics (22-09-2021)“…Recent studies have demonstrated the utility of scRNA-seq SNVs to distinguish tumor from normal cells, characterize intra-tumoral heterogeneity, and define…”
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6
Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer
Published in Nature communications (30-06-2017)“…Clinical challenges exist in reducing prostate cancer (PCa) disparities. The RNA splicing landscape of PCa across racial populations has not been fully…”
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7
Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors
Published in Endocrine-related cancer (01-10-2023)“…Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms, believed to originate from the interstitial cells of Cajal (ICC), often caused by…”
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8
Sex-dependent transcription of cardiac electrophysiology and links to acetylation modifiers based on the GTEx database
Published in Frontiers in cardiovascular medicine (22-07-2022)“…Development of safer drugs based on epigenetic modifiers, e.g., histone deacetylase inhibitors (HDACi), requires better understanding of their effects on…”
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scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets
Published in BMC genomics (08-01-2021)“…Recently, pioneering expression quantitative trait loci (eQTL) studies on single cell RNA sequencing (scRNA-seq) data have revealed new and cell-specific…”
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10
Prostate cancer cell-platelet bidirectional signaling promotes calcium mobilization, invasion and apoptotic resistance via distinct receptor-ligand pairs
Published in Scientific reports (17-02-2023)“…Platelets play a crucial role in cancer and thrombosis. However, the receptor-ligand repertoire mediating prostate cancer (PCa) cell-platelet interactions and…”
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Cell therapy using ex vivo reprogrammed macrophages enhances antitumor immune responses in melanoma
Published in Journal of experimental & clinical cancer research (14-09-2024)“…Macrophage-based cell therapies have shown modest success in clinical trials, which can be attributed to their phenotypic plasticity, where transplanted…”
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Systematic pan-cancer analysis of somatic allele frequency
Published in Scientific reports (16-05-2018)“…Imbalanced expression of somatic alleles in cancer can suggest functional and selective features, and can therefore indicate possible driving potential of the…”
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Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory
Published in Translational psychiatry (27-10-2020)“…Inhibition of the angiotensin type 1 receptor (AT 1 R) has been shown to decrease fear responses in both humans and rodents. These effects are attributed to…”
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Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome
Published in Disease models & mechanisms (01-02-2022)“…22q11.2 Deletion Syndrome (22q11DS) is a neurodevelopmental disorder associated with cranial nerve anomalies and disordered oropharyngeal function, including…”
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Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling
Published in PloS one (12-08-2013)“…P21-activated kinase 1 (PAK1), a serine/threonine protein kinase, modulates many cellular processes by phosphorylating its downstream substrates. In addition…”
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16
Carney complex and lentiginosis
Published in Pigment cell and melanoma research (01-10-2009)“…Summary Initially described as the ‘complex of myxomas, spotty skin pigmentation and endocrine overactivity,’ Carney complex (CNC) is known as an autosomal…”
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Genomic insights into triple-negative and HER2-positive breast cancers using isogenic model systems
Published in PloS one (23-09-2013)“…In general, genomic signatures of breast cancer subtypes have little or no overlap owing to the heterogeneous genetic backgrounds of study samples. Thus,…”
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Phosphodiesterase sequence variants may predispose to prostate cancer
Published in Endocrine-related cancer (01-08-2015)“…We hypothesized that mutations that inactivate phosphodiesterase (PDE) activity and lead to increased cAMP and cyclic guanosine monophosphate levels may be…”
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BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity
Published in Journal for immunotherapy of cancer (01-02-2023)“…Women with BRCA1 germline mutations have approximately an 80% lifetime chance of developing breast cancer. While the tumor suppressor function of BRCA1 in…”
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Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors
Published in Reviews in endocrine & metabolic disorders (01-03-2008)“…Pituitary tumors are among the most common neoplasms in man; they account for approximately 15% of all primary intracranial lesions (Jagannathan et al.,…”
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