Varaico: Literature-Extracted Genetic Variants

Gene:HIF1A
Variant:p.P582S
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HIF1A

NM_001530.4:p.P582S

Associated Papers

Transcriptomic and multi-layer variant analysis identifies STAT3 and HIF1A as central regulators of regulated cell death pathways in lung squamous cell carcinoma.

Li X et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2026

Genetic polymorphisms and diabetic foot ulcer susceptibility: a systematic review and meta-analysis of Indian populations.

Kumar YS et al.

Journal of Diabetes and Metabolic Disorders, 2025

Genetic variability of HIF1A and response to treatment with cisplatin in combination with pemetrexed or gemcitabine in patients with malignant mesothelioma.

Setina M et al.

Radiology and Oncology, 2025

Genetic Factors of Elite Wrestling Status: A Multi-Ethnic Comparative Study.

Kozuma A et al.

Genes, 2025

Comparison of athletic performance of Turkish ice hockey players with ACE I/D (rs1799752), ACTN3 (rs1815739), PPARA (rs4253778) and HIF1A (rs11549465) polymorphisms.

Doğan CS et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

Influence of genetic polymorphism on sports talent performance versus non-athletes: a systematic review and meta-analysis.

Ferreira CP et al.

Bmc Sports Science, Medicine & Rehabilitation, 2024

39482721 (PubMed )
Supplement: 13102_2024_1001_MOESM2_ESM.xlsx › Included_articles

Idiopathic erythrocytosis: a germline disease?

Elli EM et al.

Clinical and Experimental Medicine, 2024

Exploring the Correlation Between Hypoxia, HIF1A Variants, and Breast Cancer in Different Ethnicities, and Bangladeshi Women: Through ELISA and Integrative Multi-Omics Analysis.

Islam MS et al.

Biomarker Insights, 2024

The Role of AGT, AMPD1, HIF1α, IL-6 Gene Polymorphisms in the Athletes' Power Status: A Meta-Analysis.

Ipekoglu G et al.

Journal of Human Kinetics, 2023

Genes and Athletic Performance: The 2023 Update.

Semenova EA et al.

Genes, 2023

Single Nucleotide Polymorphisms of the HIF1A Gene are Associated With Sensitivity of Glucocorticoid Treatment in Pediatric ITP Patients.

Gu H et al.

Journal of Pediatric Hematology/oncology, 2023

Hypoxia-Inducible Pathway Polymorphisms and Their Role in the Complications of Prematurity.

Strauss E et al.

Genes, 2023

Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma.

Vargova D et al.

Pathology Oncology Research : Por, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Impact of germline polymorphisms in genes regulating glucose uptake on positron emission tomography findings and outcome in diffuse large B-cell lymphoma: results from the PETAL trial.

Broecker-Preuss M et al.

Journal of Cancer Research and Clinical Oncology, 2022

Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis.

Konopka MJ et al.

Scandinavian Journal of Medicine & Science in Sports, 2022

35839336 (PubMed )
Supplement: SMS-32-1414-s001.docx

The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players.

Végh D et al.

Genes, 2022

HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes.

Malczewska-Lenczowska J et al.

Journal of Strength and Conditioning Research, 2022

Patients with repaired tetralogy of Fallot and the HIF1A1744C/T variant have increased imaging markers of diffuse myocardial fibrosis.

Vaikom House AK et al.

International Journal of Cardiology, 2022

Association of hypoxia inducible factor 1-Alpha gene polymorphisms with multiple disease risks: A comprehensive meta-analysis.

Harun-Or-Roshid M et al.

Plos One, 2022

Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Yu X et al.

Cardiology Research and Practice, 2022

36032316 (PubMed )
Supplement: 9742071.f1.xlsx › msokok.rs2

Genetic polymorphisms of muscular fitness in young healthy men.

Venckunas T et al.

Plos One, 2022

36166425 (PubMed )
Supplement: pone.0275179.s002.docx

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Ravasi G et al.

Genes, 2021

Association of rs11549465 (C1772T) variant of hypoxia-inducible factor-1α with Covid-19 susceptibility. A population-based epidemiological study.

Das A et al.

Human Cell, 2021

Integrative Map of HIF1A Regulatory Elements and Variations.

Kunej T

Genes, 2021

Polymorphism analysis of candidate risk genes for pressure injuries in older Japanese patients: A cross-sectional study at a long-term care hospital.

Tsukatani T et al.

Wound Repair and Regeneration : Official Publication of the Wound Healing Society [and] the European Tissue Repair Society, 2021

Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China.

Liu YH et al.

World Journal of Diabetes, 2021

HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy.

Kukec E et al.

Brain Research, 2021

Association between genetic variants in the HIF1A-VEGF pathway and left ventricular regional myocardial deformation in patients with hypertrophic cardiomyopathy.

Pieles GE et al.

Pediatric Research, 2021

HIF1A: A Putative Modifier of Hemochromatosis.

Pelucchi S et al.

International Journal of Molecular Sciences, 2021

Molecular Evaluation of HIF-1α Gene Variation and Determination of Its Frequency and Association with Breast Cancer Susceptibility in Saudi Arabia.

Mir R et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2021

Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Appel M et al.

Frontiers in Physiology, 2021

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women.

Khanal P et al.

Genes, 2020

The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.

Díaz Ramírez J et al.

Journal of Strength and Conditioning Research, 2020

The Genomics and Genetics of Oxygen Homeostasis.

Semenza GL

Annual Review of Genomics and Human Genetics, 2020

Genetic association of hypoxia inducible factor 1-alpha (HIF1A) Pro582Ser polymorphism with risk of diabetes and diabetic complications.

Ren H et al.

Aging, 2020

Single nucleotide polymorphisms of the HIF1A gene are associated with susceptibility to pulmonary arterial hypertension in systemic sclerosis and contribute to SSc-PAH disease severity.

Takagi K et al.

International Journal of Rheumatic Diseases, 2020

Genetic Variability of Antioxidative Mechanisms and Cardiotoxicity after Adjuvant Radiotherapy in HER2-Positive Breast Cancer Patients.

Marinko T et al.

Disease Markers, 2020

The evaluation of VEGF and HIF-1α gene polymorphisms and multiple sclerosis susceptibility.

Saravani M et al.

The Journal of Gene Medicine, 2019

Impact of the gene-gene interactions related to the HIF-1α signaling pathway with the knee osteoarthritis development.

Fernández-Torres J et al.

Clinical Rheumatology, 2019

Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.

Kristan A et al.

European Journal of Haematology, 2019

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Association of hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis.

Li HY et al.

Bmc Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."