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297 results

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Page 1
Genetic polymorphisms of PKLR gene and their associations with milk production traits in Chinese Holstein cows.
Du A, Zhao F, Liu Y, Xu L, Chen K, Sun D, Han B. Du A, et al. Front Genet. 2022 Sep 2;13:1002706. doi: 10.3389/fgene.2022.1002706. eCollection 2022. Front Genet. 2022. PMID: 36118870 Free PMC article.
Our previous work had confirmed that pyruvate kinase L/R (PKLR) gene was expressed differently in different lactation periods of dairy cattle, and participated in lipid metabolism through insulin, PI3K-Akt, MAPK, AMPK, mTOR, and PPAR signaling pathways, suggesting t …
Our previous work had confirmed that pyruvate kinase L/R (PKLR) gene was expressed differently in different lactation periods …
Association of PKLR gene copy number, expression levels and enzyme activity with 2,3,7,8-TCDD exposure in individuals exposed to Agent Orange/Dioxin in Vietnam.
Vuong NB, Quang HV, Linh Trang BN, Duong DH, Toan NL, Tong HV. Vuong NB, et al. Chemosphere. 2023 Jul;329:138677. doi: 10.1016/j.chemosphere.2023.138677. Epub 2023 Apr 13. Chemosphere. 2023. PMID: 37060958

Positive correlations of PKLR gene copy number and gene expression with 2,3,7,8-TCDD concentrations were observed (r = 0.2, P = 0.045 and r = 0.54, P < 0.0001, respectively). ...Additionally, PKLR SNP rs3020781 was found to be associated with 2,3,7,

…
Positive correlations of PKLR gene copy number and gene expression with 2,3,7,8-TCDD concentrations were observed (r = …
Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA.
Quintana-Bustamante O, Fañanas-Baquero S, Orman I, Torres R, Duchateau P, Poirot L, Gouble A, Bueren JA, Segovia JC. Quintana-Bustamante O, et al. PLoS One. 2019 Oct 16;14(10):e0223775. doi: 10.1371/journal.pone.0223775. eCollection 2019. PLoS One. 2019. PMID: 31618280 Free PMC article.
With the goal of moving toward more clinically relevant stem cells, we aim at editing the PKLR gene in primary human hematopoietic progenitors and hematopoietic stem cells (HPSCs). ...Lastly, a very low level of gene edited HPSCs were detected after engraftme …
With the goal of moving toward more clinically relevant stem cells, we aim at editing the PKLR gene in primary human hematopoi …
Targeting PKLR in liver diseases.
Yuan M, Shi M, Yang H, Ashraf S, Iqbal S, Turkez H, Boren J, Zhang C, Uhlén M, Altay O, Mardinoglu A. Yuan M, et al. Trends Endocrinol Metab. 2025 Apr 11:S1043-2760(25)00054-2. doi: 10.1016/j.tem.2025.03.009. Online ahead of print. Trends Endocrinol Metab. 2025. PMID: 40221236 Review.
Pyruvate kinase is a key regulator in hepatic glucose metabolism, encoded by the gene pyruvate kinase liver/red blood cells (PKLR). Systems biology-based approaches, including metabolic and gene co-expression networks analyses, as well as genome-wide associat …
Pyruvate kinase is a key regulator in hepatic glucose metabolism, encoded by the gene pyruvate kinase liver/red blood cells (PKLR …
Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations.
Bezerra OCL, Alvarado-Arnez LE, Mabunda N, Salomé G, de Sousa A, Kehdy FSG, Sales-Marques C, Manta FSN, Andrade RM, Ferreira LP, Leal-Calvo T, Cardoso CC, Nunes K, Gouveia MH, Mbulaiteve SM, Yeboah ED, Hsing A, Latini ACP, Leturiondo AL, Rodrigues FDC, Noronha AB, Ferreira CO, Talhari C, Rêgo JL, Castellucci LCC, Tarazona-Santos E, Carvalho EF, Meyer D, Pinheiro RO, Jani IV, Pacheco AG, Moraes MO. Bezerra OCL, et al. PLoS Negl Trop Dis. 2021 Aug 27;15(8):e0009434. doi: 10.1371/journal.pntd.0009434. eCollection 2021 Aug. PLoS Negl Trop Dis. 2021. PMID: 34449765 Free PMC article.
Furthermore, we observed genetic signatures of positive selection in the HCN3 gene (xpEHH>2 -recent selection) in Europe but not in Africa, involving 6 SNPs which are PKLR/HCN3 eQTLs. ...Altogether, we provide evidence that a common PKLR locus in Africans …
Furthermore, we observed genetic signatures of positive selection in the HCN3 gene (xpEHH>2 -recent selection) in Europe but not i …
HNF-1a promotes pancreatic cancer growth and apoptosis resistance via its target gene PKLR.
Fan Z, Fan K, Deng S, Gong Y, Qian Y, Huang Q, Yang C, Cheng H, Jin K, Luo G, Liu C, Yu X. Fan Z, et al. Acta Biochim Biophys Sin (Shanghai). 2020 Mar 18;52(3):241-250. doi: 10.1093/abbs/gmz169. Acta Biochim Biophys Sin (Shanghai). 2020. PMID: 32072180 Free article.
HNF-1a was found to be overexpressed in pancreatic cancer and promoted proliferation while inhibiting apoptosis in pancreatic cancer cells. PKLR was identified as the downstream target gene of HNF-1a and binding of HNF-1a at two sites in PKLR (-1931/-1926 and …
HNF-1a was found to be overexpressed in pancreatic cancer and promoted proliferation while inhibiting apoptosis in pancreatic cancer cells. …
Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer.
Chen WY, Thuy Dung PV, Yeh HL, Chen WH, Jiang KC, Li HR, Chen ZQ, Hsiao M, Huang J, Wen YC, Liu YN. Chen WY, et al. Redox Biol. 2023 Jun;62:102686. doi: 10.1016/j.redox.2023.102686. Epub 2023 Mar 21. Redox Biol. 2023. PMID: 36963289 Free PMC article.
ADT mediates the nuclear translocation of PKLR, which binds to the MYCN/MAX complex to upregulate ROMO1 and NE-related genes, leading to altered mitochondrial function and NED of PCa. Targeting nuclear PKLR/MYCN using bromodomain and extra-terminal motif (BET …
ADT mediates the nuclear translocation of PKLR, which binds to the MYCN/MAX complex to upregulate ROMO1 and NE-related genes, …
Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.
Wang Y, Liu J, Liu T, An X, Huang L, Li J, Zhang Y, Xiang Y, Xiao L, Yi W, Qin J, Liu L, Wang C, Yu J. Wang Y, et al. Heliyon. 2024 Feb 16;10(5):e26368. doi: 10.1016/j.heliyon.2024.e26368. eCollection 2024 Mar 15. Heliyon. 2024. PMID: 38434380 Free PMC article.
Pyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood cell gene. The clinical presentations of pyruvate kinase deficiency are significantly heterogeneous, ranging from just mild anemia to h …
Pyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood ce …
Computational analysis of non-synonymous single nucleotide polymorphism in the bovine PKLR geneComputational analysis of bovine PKLR gene.
Hoda A, Bixheku X, Lika Çekani M. Hoda A, et al. J Biomol Struct Dyn. 2024 May;42(8):4155-4168. doi: 10.1080/07391102.2023.2219315. Epub 2023 Jun 6. J Biomol Struct Dyn. 2024. PMID: 37278385
Pyruvate kinase (PKLR) is a potential candidate gene for milk production traits in cows. The main aim of this work is to investigate the potentially deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the PKLR gene by using several c …
Pyruvate kinase (PKLR) is a potential candidate gene for milk production traits in cows. The main aim of this work is to inves …
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A. Milanesio B, et al. Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23. Clin Biochem. 2021. PMID: 33631127
BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients …
BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene …
297 results