Sentence examples for mutations causing AD-typical from inspiring English sources

This strain has a genetic background similar to that of the Swede and Tau mice but lacks the mutations causing AD-typical neuropathologies.

Mutations causing AD have been shown to abrogate this channel activity, and result in enhanced ER Ca2+ levels and, following cell stimulation, increased cytosolic Ca2+ transients [96,97].

TINF2 mutations cause AD-DC [52] in around 11% of all cases of DC and in some cases HH [53].

Another consideration is the role of autosomal dominant mutations causing familial AD.

While AD is a strictly human disease [ 101], the generation of genetically modified mice expressing mutations in genes that cause AD has enabled progress in understanding its pathogenesis.

In fact, most lethal mutations cause only very rare diseases.

Conversely, human GLIS3 mutations cause neonatal diabetes.

Mutations in the gene encoding the microtubule-associated protein tau, the major component of neurofibriallary tangles, do not cause AD, but instead underlie frontal temporal dementia and progressive supranuclear palsy [ 20], diseases that are clinically distinct from AD.

Variants in CR1 could potentially cause AD by disrupting its A β clearing function or by a gain-of-function mutation resulting in increased endocytosis.

This network, formally known as the Dominantly Inherited Alzheimer's Network (DIAN), will enable international longitudinal studies of persons with dominantly inherited mutations that cause AD.

This hypothesis stems from the identification of an APP mutation in a family with autosomal dominant amyloid angiopathy, dementia, and AD-typical histology [ 94].