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T allele of AMPD1 gene C34T polymorphism may be correlated with LVEF, LVEDD and SBP, which plays a protective role in the cardiac functions and blood pressure in cardiovascular disease patients.
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The metabolic-chronotropic response is decreased in skeletal muscle MAD deficiency, suggesting a biological mechanism by which AMPD1 gene exerts cardiac effect
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Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome.
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Common polymorphism of the AMPD1 gene (C34T) is strongly associated with essential hypertension.
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AMPD1 could have a profound influence on cholinergic neurotransmission and sleep; further studies are mandatory
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AMPD1 34C>T variant is associated with higher infection susceptibility to community acquired pneumonia but not to ventilator associated pneumonia in sepsis pateints
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Mutational variants in AMPD1 contribute to autism risk in Han Chinese population, via mitochondria dysfunction and cell necrosis.
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The best response to creatine in terms of physical performance was presented by AMPD1 CC genotype.
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The present study demonstrated a positive effect of C34T AMPD1 gene polymorphism in aortic stiffness and in inflammatory status in a high risk population of CAD subjects.
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Our other studies on the metabolic impact of AMPD1 C34T mutation revealed decrease in AMPD activity.
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Alpinists show significantly higher frequencies of T allele compared to controls.
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AMPD1 gene polymorphism C34T can be considered as a marker of liability to the high-speed and strength muscular activity.
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In a study of a Spanish and 2 North African cohorts, frequency of the AMPD1 C34T mutation was lower in Berbers compared with the Alpujarra cohort. The GDF8 K153R substitution showed little variability among the three cohorts.
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There was a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. The data suggested that the C allele may help athletes to attain elite status in power-oriented sports.
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The researchers found evidence that the T allele polymorphism of the AMPD1 gene is associated with negative factor in athletic performance
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AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
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some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation
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A G468T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
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Significantly higher frequency of mutation among donors with healthy hearts used for transplantation. Lower frequency in dysfunctional donor hearts. Frequency of C34T mutation in chronic heart failure was not different. (Review)
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The AMPD1 C34T polymorphism influences transplant-free cardiovascular survival in the setting of ischemic left ventricular dysfunction.