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Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.777
Abstract: In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine “liquid biopsy,” droplet digital PCR, and sequencing of PCR products to identify…
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Keywords:
identify novel;
pseudoexon causing;
novel pseudoexon;
urine mrna ... See more keywords
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Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7454-2_12
Abstract: The core genomes of most bacterial species include a large number of genes encoding putative efflux pumps. The functional roles of most of these pumps are unknown, however, they are often under tight regulatory control…
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Keywords:
novel drug;
identify novel;
drug efflux;
efflux pumps ... See more keywords
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Published in 2019 at "Methods"
DOI: 10.1016/j.ymeth.2019.11.015
Abstract: The protein arginine methyltransferase family (PRMT) is known as being the catalytic driving force for arginine methylation. This specific type of post translational modification is extensively used in biological processes, and therefore is highly relevant…
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Keywords:
interactors substrates;
identify novel;
purification coupled;
protein arginine ... See more keywords
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Published in 2025 at "Nature Genetics"
DOI: 10.1038/s41588-025-02087-4
Abstract: Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. Here, we report results from a large genome-wide association study and multitrait analysis including 5,900 HCM cases, 68,359…
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Keywords:
genome wide;
hcm;
wide association;
hypertrophic cardiomyopathy ... See more keywords
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Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-1360
Abstract: Poly(ADP-ribosylation) (PARylation) is a reversible post-translational protein modification that regulates a number of cellular processes. It is generated by a family of PAR polymerases (PARP), of which PARP1 has recently been exploited as a target…
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Keywords:
novel parylation;
identify novel;
biosensor;
parylation targets ... See more keywords
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Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.genfunc25-b026
Abstract: Ovarian cancer (OC) is a leading cause of gynecological cancers deaths in women. Despite high histological and genetic heterogeneity of OC, the standard treatment remains largely unchanged, consisting of cytoreductive surgery followed by platinum-taxol chemotherapy.…
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Keywords:
cancer;
treatment;
drug;
ovarian cancer ... See more keywords
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Published in 2019 at "Genome Medicine"
DOI: 10.1186/s13073-019-0673-3
Abstract: A major advance in antimalarial drug discovery has been the shift towards cell-based phenotypic screening, with notable progress in the screening of compounds against the asexual blood stage, liver stage, and gametocytes. A primary method…
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Keywords:
omics based;
identify novel;
drug;
methods identify ... See more keywords
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Published in 2025 at "Genome Medicine"
DOI: 10.1186/s13073-025-01503-y
Abstract: Immunotherapy is now standard of care for multiple myeloma, where the most common targets are B cell maturation antigen, CD38, and G protein-coupled receptor class C group 5 member D but strategies to identify additional…
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Keywords:
multiple myeloma;
utilizing genomics;
risk subgroups;
high risk ... See more keywords
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1
Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0182592
Abstract: As a chronic illness derived from hair cells of the inner ear, Menière’s disease (MD) negatively influences the quality of life of individuals and leads to a number of symptoms, such as dizziness, temporary hearing…
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Keywords:
network based;
network;
identify novel;
novel genes ... See more keywords
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Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0273770
Abstract: Porphyromonas gingivalis is a primary causative agent of chronic periodontitis. Moreover, it leads to several systemic diseases, including rheumatoid arthritis, cardiovascular, neurodegenerative, and Alzheimer’s diseases. It seems that the development of a vaccine against this…
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Keywords:
reverse vaccinology;
immunogenic targets;
identify novel;
novel immunogenic ... See more keywords
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Published in 2019 at "Cancer Management and Research"
DOI: 10.2147/cmar.s189661
Abstract: Background: Gastrointestinal stromal tumors (GISTs) represent a worldwide paradigm of target therapy. The introduction of tyrosine kinase inhibitors has deeply changed the prognosis of GIST patients, however, the majority of them acquire secondary mutations and…
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Keywords:
stromal tumors;
druggable targets;
identify novel;
pi3k inhibitor ... See more keywords