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https://www.selleckchem.com/products/AC-220.html res of both toenail manganese (R = 0.59, p = 0.02) and mercury (R = 0.74, p less then 0.001), as well as between in vivo XRF toenail manganese and work history among the welders (R = 0.55, p = 0.03). We identified in vivo XRF detection limits to be 0.5 µg/g for mercury and 2.6 µg/g for manganese. Further work should elucidate differences in the timing of exposure using the in vivo XRF method over toenail clippings and modification of measurement time and x-ray setting to further decrease the detection limit. In vivo portable, XRF measurements can be used to effectively measure toenail Mn and Hg in occupational participants in real-time during study visits and at a fraction of the cost.Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal migration is known to be associated with mutations in the doublecortin gene (DCX), the platelet-activating factor acetylhydrolase gene (PAFAH1B1), or tubulin alpha-1A gene (TUBA1A). Recently, a new gene encoding echinoderm microtubule-associated protein-like 1 (EML1) was reported to cause a particular form of subcortical heterotopia, the ribbon-like subcortical heterotopia (RSH). EML1 mutations are inherited in an autosomal recessive manner. Only six unrelated EML1-associated heterotopia-affected families were reported so far. The EML1 protein is a member of the microtubule-associated proteins family, playing an important role in microtubule assembly and stabilization as well as in mitotic spindle formation in interphase. Herein, we present a novel homozygous missense variant in EML1 (NM_004434.2 c.692G>A, NP_004425.2 p.Gly231Asp) identified in a male RSH-affected patient. Our clinical and molecular findings confirm the genotype-phenotype associations of EML1 mutations and RSH. Analyses of pa
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