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We then mated Wwoxflox/flox mice with homozygous EIIA-Cre transgenic mice that resulted in the first familial generation (F1) of pups having one Wwox allele with wild-type sequences and one Wwox allele with Exon 1 deleted (Wwox+/ΔCre).
Adding an additional familial generation to the filtering process, in our case a grandparent, significantly reduced the number of putative de novo variants to a value comparable with that of the previously reported value of expected de novo non-synonymous mutations.
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In contrast to familial PrDs, the generation of infectious PrPRES is proposed to occur at the plasma membrane and during its cycling through the endocytic pathway [18], [19], [20].
Coresidence symbolizes provision of familial support across generations.
32 34 The a priori purpose was to examine familial and cross-generation influences on early childhood development over the first 5 years of children's lives.
In the case of Mendelian disorders and strong familial traits, next-generation sequencing of a limited number of well-selected individuals may reveal relevant alleles with functional consequences.
However, the efficiency and reliability of such approach to testing of familial relationship in generations deeper than first was not tested.
In the case of multiple generation families with different environments, familial clustering is likely to represent sharing of genetic modifiers within families.
We identified an autosomal dominant non-sense mutation (R225X) in exon 4 of the lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated cardiomyopathy (DCM).
With respect to iPSC models of AD, two groups have reported generation of familial AD iPSCs and disease-related phenotypes.
The generation of familial ALS mouse models, especially SOD1, has helped clarify several important aspects of the disease pathogenesis, but a precise molecular mechanism is still lacking.
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