Sentence examples for mutation and human from inspiring English sources

So far, CAPN3 mutations and LGMD2A have the only clearly demonstrated cause-and-effect relationship between a calpain gene mutation and human disease; thus, LGMD2A is also called calpainopathy.

In the present study, we have examined ganglioside metabolism in the brain of a double-Tg (transgenic) mouse model of AD that co-expresses mouse/human chimaeric APP (amyloid precursor protein) with the Swedish mutation and human presenilin-1 with a deletion of exon 9.

To enable direct comparison to existing lines of humanized Aβ mice (e.g. MoHuAPPswe/PS1dE9-Line 85 [ 24]), we produced mice co-expressing mouse APP695 harboring the Swedish (K595M/N596L) mutation and human PS1dE9 by co-injecting the two transgenes, each driven by its own prion promoter element [ 20], into fertilized embryos from crosses of C3H/HeJ and C57BL/6J mice (C3/B6 F1).

Considering that previous research has shown that fibroblasts from patients carrying the APPsw mutation and human neuroblastoma cells overexpressing the mutation secrete higher levels of Aβ (Cai et al., 1993; Citron et al., 1994), we investigated APP cleavage in the astrocyte populations.

We recently examined the ganglioside composition of the brains of a double-Tg (transgenic) mouse model [APP (amyloid precursor protein)/PSEN1 (presenilin-1)] of AD that co-expresses mouse/human chimeric APP with the Swedish double-mutation and human PSEN1 with a deletion of exon 9 (Ariga et al., 2010).

7 One of the most surprising findings was the discovery in 2004 of a link between cohesin gene mutations and human developmental abnormalities.

In transgenic mice expressing different APP mutants, down regulation of SREBP1 was observed in brain independently of APP mutations and human PS1 expression.

The Tg6799 mice (formerly JAX Stock No. 008730) overexpress both mutant human APP695 form along with the Swedish (K670N, M671L), Florida (I716V), and London (V717I) familial AD (FAD) mutations and human PS1 harboring two FAD mutations, M146L and L286V.

Therefore, both qualitative and quantitative estimations of mutant alleles in the mitochondrial genome (presence or absence of a mutation and the level of heteroplasmy, respectively) are necessary for studying the association between mitochondrial mutations and human diseases.

Barrier et al. (2007) also reported an increase in GM2 and GM3 within the cortices of Tg mice expressing human APP751 with Swedish and London mutations and human PSEN-1 (M146L).

The fact that two different genes control anthocyanin root pigmentation in unrelated genetic backgrounds suggests that independent mutations and human selection events may have contributed to the domestication of purple carrots.