Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.Q12*
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AMPD1

NM_000036.3:p.Q12*

Associated Papers

Association of Genetically Predicted Activity of AMP Deaminase 1 with Clinical and Biochemical Parameters in Diabetic Individuals with Coronary Artery Disease.

Pietrzak-Nowacka M et al.

International Journal of Molecular Sciences, 2025

Muscle AMP deaminase activity was lower in Neandertals than in modern humans.

Macak D et al.

Nature Communications, 2025

Association Between the c.34C > T (rs17602729) Polymorphism of the AMPD1 Gene and the Status of Endurance and Power Athletes: A Systematic Review and Meta-Analysis.

Kartibou J et al.

Sports Medicine (auckland, N.z.), 2025

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Influence of Genetic Polymorphisms and Biochemical Biomarkers on Response to Nutritional Iron Supplementation and Performance in a Professional Football Team: A Pilot Longitudinal Study.

Varillas-Delgado D

Nutrients, 2025

AMPD1 and MTHFR genes are not associated with calcium levels in rheumatoid arthritis patients with methotrexate therapy in Indonesia.

Destiani DP et al.

Scientific Reports, 2025

The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge?

Borzemska B et al.

Cells, 2024

The frequency of the ACE I/D polymorphism in South America: a systematic review and meta-analysis.

Trevisano RG et al.

Molecular and Cellular Biochemistry, 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

The Association of Genetic Markers Involved in Muscle Performance Responding to Lactate Levels during Physical Exercise Therapy by Nordic Walking in Patients with Long COVID Syndrome: A Nonrandomized Controlled Pilot Study.

Lizcano-Álvarez Á et al.

International Journal of Molecular Sciences, 2024

Association of iron supplementation, HFE and AMPD1 polymorphisms and biochemical iron metabolism parameters in the performance of a men's World Tour cycling team: A pilot study.

Varillas-Delgado D

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2024

Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success.

Psatha A et al.

Human Genomics, 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

Pharmacogenetic Sex-Specific Effects of Methotrexate Response in Patients with Rheumatoid Arthritis.

Ceballos FC et al.

Pharmaceutics, 2023

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Urtizberea JA et al.

Genes, 2023

Metabolic Myopathies.

Tarnopolsky MA

Continuum (minneapolis, Minn.), 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

Purple grape juice improves performance of recreational runners, but the effect is genotype dependent: a double blind, randomized, controlled trial.

de Sousa BRV et al.

Genes & Nutrition, 2022

Speed and power-related gene polymorphisms associated with playing position in elite soccer players.

Petr M et al.

Biology of Sport, 2022

Genetic profiles to identify talents in elite endurance athletes and professional football players.

Varillas-Delgado D et al.

Plos One, 2022

Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.

Wilkinson M et al.

Frontiers in Medicine, 2022

Candidate Genes of Regulation of Skeletal Muscle Energy Metabolism in Athletes.

Balberova OV et al.

Genes, 2021

Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes.

Pranckeviciene E et al.

Genes, 2021

Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.

Singh A et al.

International Journal of Rheumatic Diseases, 2021

The genetics of rheumatoid arthritis.

Dedmon LE

Rheumatology (oxford, England), 2020

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.

Mikhaylenko DS et al.

International Journal of Molecular Sciences, 2020

AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.

Leońska-Duniec A et al.

Genes, 2020

Are gene polymorphisms related to adverse events of methotrexate in patients with rheumatoid arthritis? A retrospective cohort study based on an updated meta-analysis.

Huang J et al.

Therapeutic Advances in Chronic Disease, 2020

Association of long noncoding RNA H19 polymorphisms with the susceptibility and clinical features of ischemic stroke in southern Chinese Han population.

Huang J et al.

Metabolic Brain Disease, 2019

Non-HLA Genetic Factors and Their Influence on Heart Transplant Outcomes: A Systematic Review.

van Setten J et al.

Transplantation Direct, 2019

30882026 (PubMed )
Supplement: txd-5-e422-s001.pdf

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM1_ESM.docx

Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.

Parker WAE et al.

Platelets, 2019

Identification of Two Novel Single Nucleotide Polymorphisms in the Promoter Region of the Pig AMP Deaminase 1 Gene Associated with Carcass Traits.

Wang L et al.

Dna and Cell Biology, 2018

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

Noury JB et al.

Acta Neurologica Scandinavica, 2018

Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes.

Guilherme JPLF et al.

Annals of Human Genetics, 2018

Polygenic Study of Endurance-Associated Genetic Markers NOS3 (Glu298Asp), BDKRB2 (-9/+9), UCP2 (Ala55Val), AMPD1 (Gln45Ter) and ACE (I/D) in Polish Male Half Marathoners.

Gronek P et al.

Journal of Human Kinetics, 2018

Role of the HPRG Component of Striated Muscle AMP Deaminase in the Stability and Cellular Behaviour of the Enzyme.

Ronca F et al.

Biomolecules, 2018

Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.

Feng AF et al.

Bmc Cardiovascular Disorders, 2017

Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Qiu Q et al.

Scientific Reports, 2017

Polymorphisms and pharmacogenomics for the toxicity of methotrexate monotherapy in patients with rheumatoid arthritis: A systematic review and meta-analysis.

Qiu Q et al.

Medicine, 2017

The plausible association of MTHFR and ADORA2A polymorphisms with nodules in rheumatoid arthritis patients treated with methotrexate.

Soukup T et al.

Pharmacogenetics and Genomics, 2017

Are gene polymorphisms related to treatment outcomes of methotrexate in patients with rheumatoid arthritis? A systematic review and meta-analysis.

Chen Y et al.

Pharmacogenomics, 2017

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Rannou F et al.

Plos One, 2017

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

Maltese PE et al.

Genetics and Molecular Research : Gmr, 2016

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.

Nemati R et al.

Genetics and Molecular Research : Gmr, 2016

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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."