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This result suggests that changes to S411 affect the interaction, particularly those mutations that resemble a phosphorylated state.
We have shown that our TLX1 transgenic mice frequently activate NOTCH1 via mutations that resemble those found in human T-ALL.
In two-thirds of cases NOTCH1 was activated by mutations that resemble HD and PEST mutations found in human T-ALL samples.
mdx52 and dup2 mice carry mutations that resemble the deletions and duplications in affected humans, respectively.
Jazzeri et al (2002) compared gene expression profiles in BRCA1/2-associated EOC with sporadic EOC and showed that sporadic tumours may have mutations that resemble the molecular pathways seen in germline mutations as well as dysfunction in the downstream effects of these genes.
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We then draw synthetic sets of mutations from ℳ that resemble the original sets (germline or somatic) in their essential characteristics; i.e., they have the same total number of missense mutations and the same biases in the different mutation channels (mutations C G > T A occur more frequently in both mutation sets than would be expected by chance) (G reenman et al. 2007).
Here, we describe two independent families with truncating mutations in human DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene; therefore, we suggest that DISP1 function contributes substantially to both of these signs in humans.
In general, experimental animals possessing the human SOD1 mutation G93A develop features that resemble human familial and sporadic ALS [ 25].
Furthermore, mutations in zebrafish cause diseases that resemble human diseases; for example, both adult and embryo zebrafish have been used to understand neurological and neuromuscular diseases such as Huntington's, Alzheimer's and Parkinson's.
Results from mtDNA mutator mice clearly show that mutations in mtDNA can cause problems that resemble premature aging.
Single-base substitutions that resemble natural spontaneous mutations [ 17, 18], are mainly induced by ENU treatment and all genes are mutated at random [ 19].
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mutations that close
mutations that appear
mutations that cause
mutations that allow
mutations that are
mutations that have
mutations that start
mutations that explain
mutations that make
mutations that identify
mutations that abrogate
mutations that produce
mutations that result
mutations that occur
mutations that create
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