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There is extraordinary variation in the frequency and spectrum of somatic mutations affecting different cancers, shedding light on the underlying mutational processes and disease etiology of these tumors (Wheeler and Whang, 2013).
A plasma protein called transthyretin often misfolds into amyloid because of at least 80 mutations affecting different parts of the body.
Computational models have helped identify a common mechanism of epilepsy pathophysiology: apparently functionally disparate mutations affecting different sodium channels can result in neuronal hyperexcitability33.
Therefore, mutations affecting different elements of the pathway lead to cell lysis [ 4, 5].
No definable clinico-radiological characteristics have been identified that separate microcephalies caused by mutations affecting different parts of the mitotic cycle.
Recent advancements in exome sequencing studies have demonstrated that the collection of de novo mutations affecting different genes in different individuals might explain a proportion of such common complex diseases as epileptic encephalopathies [ 24].
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"It might show patterns of how mutations affect different diseases". IBM's Watson Genomics initiative, for example, is crunching data on the entire genomes of tumors, with the hope of generating personalized medicine for cancer patients.
At present, it is unclear why different mutations affect different tissues.
HOX-genes encode regulatory proteins with specific individual functions and mutations affect different aspects of the body plan [ 45].
Interestingly, the TFG mutations affect different domains of the protein: the coil coil domain in the HSP family, the P/Q rich domain in the family with neuropathy, suggesting different pathological mechanisms.
Therefore, it seems clear the mechanisms preventing fertilization are different in these genotypes, so it's reasonable to hypothesize that the mutations affected different genes or pathways implicated in reproduction.
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