Articles with "genetic metabolic" as a keyword



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Genetic, metabolic and immunological features of cancers with NRF2 addiction

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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… read more here.

Keywords: cancer cells; metabolic immunological; nrf2 addiction; genetic metabolic ... See more keywords
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Hepatocellular Neoplasms Arising in Genetic Metabolic Disorders: Steatosis is Common in Both Tumor and Background Liver.

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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… read more here.

Keywords: background liver; genetic metabolic; metabolic disorders; metabolic ... See more keywords
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Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

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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… read more here.

Keywords: metabolic profiling; profiling individuals; genetic metabolic; individuals phelan ... See more keywords
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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

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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… read more here.

Keywords: neurodevelopmental disorders; position statement; canadian college; genetic metabolic ... See more keywords
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Challenges in Sex- and Gender-Centered Prevention and Management of Cardiovascular Disease: Implications of Genetic, Metabolic, and Environmental Paths

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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… read more here.

Keywords: genetic metabolic; sex gender; sex; cardiovascular disease ... See more keywords
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Genetic and metabolic signatures of Salmonella enterica subsp. enterica associated with animal sources at the pangenomic scale

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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… read more here.

Keywords: subsp enterica; associated animal; genetic metabolic; enterica subsp ... See more keywords