Articles with "polymorphic variants" as a keyword



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Gene promoter polymorphisms in boar spermatozoa differing in freezability.

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Published in 2021 at "Theriogenology"

DOI: 10.1016/j.theriogenology.2021.02.018

Abstract: Single nucleotide polymorphisms (SNPs) in the 5'-flanking regulatory regions of genes could affect their expression levels. This is a follow-up study aimed to identify polymorphic variants in the 5'-flanking regulatory regions of genes expressed in… read more here.

Keywords: gene promoter; polymorphic variants; boar spermatozoa; gene ... See more keywords
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Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

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Published in 2019 at "Italian Journal of Pediatrics"

DOI: 10.1186/s13052-019-0657-3

Abstract: Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the alpha-N-acetyl-D-glucosaminidase activity. Based… read more here.

Keywords: polymorphic variants; pseudodeficiency; ser141ser arg737gly; naglu gene ... See more keywords
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Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.

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Published in 2023 at "Protein and peptide letters"

DOI: 10.2174/0929866530666230529143121

Abstract: BACKGROUND Hepatocellular carcinoma is a primary liver cancer and 6th most common cancer globally. Inefficient diagnostic strategies and the limited availability of treatments are the foremost reasons. Variable factors directly impact the disease burden, among… read more here.

Keywords: polymorphic variants; ass1 gene; disease; arginine metabolism ... See more keywords
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P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2

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Published in 2022 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2021.793728

Abstract: Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone… read more here.

Keywords: hsd3b1 gene; polymorphic variants; specific subgroups; patients infected ... See more keywords
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Polymorphic variants of IGF2BP3 and SENCR have an impact on predisposition and/or progression of Ewing sarcoma

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Published in 2022 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2022.968884

Abstract: Ewing sarcoma (EWS), the second most common malignant bone tumor in children and adolescents, occurs abruptly without clear evidence of tumor history or progression. Previous association studies have identified some inherited variants associated with the… read more here.

Keywords: polymorphic variants; ewing sarcoma; progression; variants igf2bp3 ... See more keywords
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Association of Polymorphic Variants in Argonaute Genes with Depression Risk in a Polish Population

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231810586

Abstract: Argonaute (AGO) proteins, through their key role in the regulation of gene expression, participate in many biological processes, including cell differentiation, proliferation, death and DNA repair. Accurate regulation of gene expression appears to be important… read more here.

Keywords: polymorphic variants; depression; rs4961280; risk ... See more keywords
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In Silico Molecular Characterization of Human TMPRSS2 Protease Polymorphic Variants and Associated SARS-CoV-2 Susceptibility

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Published in 2022 at "Life"

DOI: 10.3390/life12020231

Abstract: The 2019 coronavirus disease (COVID-19) pandemic continues to challenge health care systems worldwide. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been responsible for the cause of global pandemic. Type 2 transmembrane serine protease (TMPRSS2)… read more here.

Keywords: silico molecular; protease; polymorphic variants; susceptibility ... See more keywords