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Published in 2022 at "FEBS Letters"
DOI: 10.1002/1873-3468.14458
Abstract: Nuclear factor erythroid‐derived 2‐like 2 (NRF2) is a master transcription factor that coordinately regulates the expression of many cytoprotective genes and plays a central role in defense mechanisms against oxidative and electrophilic insults. Although increased…
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Keywords:
cancer cells;
metabolic immunological;
nrf2 addiction;
genetic metabolic ... See more keywords
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Published in 2020 at "Human pathology"
DOI: 10.1016/j.humpath.2020.11.012
Abstract: Hepatocellular neoplasms can develop in multiple genetic metabolic disorders. While there have been rare case reports, clinical and pathological characterizations have not been systematically performed. We conducted a retrospective study in 9 patients with these…
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Keywords:
background liver;
genetic metabolic;
metabolic disorders;
metabolic ... See more keywords
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Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14074
Abstract: Phelan-McDermid syndrome (PMS) (OMIM *606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association…
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Keywords:
metabolic profiling;
profiling individuals;
genetic metabolic;
individuals phelan ... See more keywords
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2
Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108962
Abstract: Purpose and scope The aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global developmental delay…
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Keywords:
neurodevelopmental disorders;
position statement;
canadian college;
genetic metabolic ... See more keywords
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Published in 2018 at "Angiology"
DOI: 10.1177/0003319718756732
Abstract: The recognition of cardiovascular disease (CVD) as a “male” privilege has been a commonly held concept. However, emerging data describe another reality. Heterogeneities have been convincingly demonstrated regarding CVD manifestations, risk factor burden, and prognosis…
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Keywords:
genetic metabolic;
sex gender;
sex;
cardiovascular disease ... See more keywords
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Published in 2019 at "BMC Genomics"
DOI: 10.1186/s12864-019-6188-x
Abstract: BackgroundSalmonella enterica subsp. enterica is a public health issue related to food safety, and its adaptation to animal sources remains poorly described at the pangenome scale. Firstly, serovars presenting potential mono- and multi-animal sources were selected…
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Keywords:
subsp enterica;
associated animal;
genetic metabolic;
enterica subsp ... See more keywords