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A suppressor screen is used to identify suppressor mutations that alleviate or revert the phenotype of the original mutation, in a process defined as synthetic viability. [13] Suppressor mutations can be described as second mutations at a site on the chromosome distinct from the mutation under study, which suppress the phenotype of the original ...
Early studies in Caenorhabditis elegans [1] and Drosophila melanogaster [2] [3] saw large-scale, systematic loss of function (LOF) screens performed through saturation mutagenesis, demonstrating the potential of this approach to characterise genetic pathways and identify genes with unique and essential functions.
Linde Lee Jacobs is an American nurse and advocate for frontotemporal dementia (FTD) research. She is a carrier of the MAPT gene mutation, which is associated with inherited FTD . Lee Jacobs has sought to support scientific research on tauopathies and improve care for those affected by FTD .
Associated regions can contain hundreds of variants spanning large regions and encompassing many different genes, making the biological interpretation of GWAS loci more difficult. Fine-mapping is a process to refine these lists of associated variants to a credible set most likely to include the causal variant.
The biochemistry of Alzheimer's disease, the most common cause of dementia, is not yet very well understood. Alzheimer's disease (AD) has been identified as a proteopathy: a protein misfolding disease due to the accumulation of abnormally folded amyloid beta (Aβ) protein in the brain. [1]
Similar to the NINCDS-ADRDA Alzheimer's Criteria are the DSM-IV-TR criteria published by the American Psychiatric Association. [3] At the same time the advances in functional neuroimaging techniques such as PET or SPECT that have already proven their utility to differentiate Alzheimer's disease from other possible causes, [4] have led to proposals of revision of the NINCDS-ADRDA criteria that ...
In community samples, cutoff scores for likely dementia have ranged from 3.3 and above to 3.6 and above, while in patient samples the cutoff scores have ranged from 3.4 and above to 4.0 and above. [3] To improve the detection of dementia, the IQCODE can be used in combination with the Mini-Mental State Examination.
Frameshift mutations will alter all the amino acids encoded by the gene following the mutation. Usually, insertions and the subsequent frameshift mutation will cause the active translation of the gene to encounter a premature stop codon , resulting in an end to translation and the production of a truncated protein.