INT138715
From wiki-pain
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
Detection of the POLG1 c.2447G>A (p.R722H) mutation | |||||||||||||||
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Analysis of the POLG1, POLG2, ANT1 and Twinkle genes | |||||||||||||||
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Detection of the POLG1 c.2447G>A (p.R722H) mutation | |||||||||||||||
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In addition, environmental temperature both higher (25°C) and lower (15°C) than 20°C present quite a metabolic stress on worms, as we have detected that all different strains, including N2, glp-4(bn2), polg-1(ok1548) and polg-1(ok1548) glp-4(bn2) mutants, had highly increased mtDNA content when grown at those temperatures (Table 2). | |||||||||||||||
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polg-1(ok1548)/mIn[dpy10(e128)mIs14]II | |||||||||||||||
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glp-4(bn2)I, polg-1(ok1548)/mIn[dpy10(e128)mIs14]II | |||||||||||||||
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Clinically, POLG mutations can present from early neonatal life to late middle age, with a spectrum of phenotypes that includes common neurological disorders such as migraine, epilepsy and Parkinsonism. | |||||||||||||||
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Progeny of polg-1 mutants arrests in the early development | |||||||||||||||
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and for polg-1 forward 5? | |||||||||||||||
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Mitochondrial transcript levels in polg-1 mutants | |||||||||||||||
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However, polg-1 deficient animals could produce a handful of eggs that arrested during embryonic development. | |||||||||||||||
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Consideration of all of these reported mutations in PEO1 might be important in deciding which gene to investigate in other families presenting with adPEO. | |||||||||||||||
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We recently described a knock-in mouse model that expresses an error-prone version of POLG (mtDNA mutator mice) (2). | |||||||||||||||
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Autosomal recessive PEO is rarely found. | |||||||||||||||
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General Comments
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