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Abbreviations: BER, base excision repair; DSB, double-stand break; ERCC2, xeroderma pigmentosum complementing protein D; ERCC3, xeroderma pigmentosum complementing ...
announced the online publication of safety data from patients with Ataxia-Telangiectasia (A-T) treated with EryDex for a minimum of 24 months in Frontiers in Neurology. "A-T is a rare pediatric ...
A number of these disorders have a definitive link to an inherited or acquired defect in one of the DNA repair pathways. Table 1 lists these disorders along with the known genetic DNA repair ...
Fitbit will pay a civil penalty of $12.25 million after it "knowingly failed to immediately report" a defect in its Ionic smartwatches that caused dozens of people to sustain burn injuries ...
Only dual route gene transfer therapy in development to treat Friedreich’s ataxia ... to repair the underlying mitochondrial dysfunction in neurons and cardiomyocytes to address neurologic, cardiac ...
Comparison of that ancient DNA with modern human DNA showed that ... individuals exhibit evidence of 17 different skeletal birth defects. Our species probably inherited some of these unfavorable ...
Of course, though, testing a child's parentage based on physical features is far too subjective — that's typically where DNA tests come in. Such tests can offer a far more scientific way of ...
Back to Healio Macular telangiectasia type 2 is a progressive and relatively rare neurodegenerative disease of the macula that typically affects patients who are older than 40 years of age ...
Defects in homologous ... and/or ATR (ataxia telangiectasia and Rad3-related) kinases, which mediate cell cycle checkpoint control; and the sensing and repair of DNA breaks. We review the data ...