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Patients with this mutation develop a resistance to EGFR inhibitors.
Mice harboring this mutation develop a lymphoproliferative syndrome and a lupus-like disease on permissive genetic backgrounds [ 16].
Mice carrying the X-linked scurfy mutation develop a lymphoproliferative disease, display a multi-organ autoimmune disease, and lack conventional CD4+CD25+ TR cells [ 6, 7, 51- 53].
We and others have reported that mice harboring an SPG4-truncated mutation develop a progressive axonal degeneration characterized by axonal swellings associated with impaired axonal transport (Tarrade et al., 2006; Kasher et al., 2009).
Humans heterozygous for a p53 mutation develop a variety of cancers at early ages, while humans carrying a mutation in one allele of p63 do not develop cancer at high rates although p63 has an essential role in epithelia development.
Our data provide evidence that 6 days after high dose irradiation, normal cells (lymphocytes) heterozygous for a BRCA1 mutation develop a significantly higher level of chromosomal aberrations when compared with controls.
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Transgenic mice and rats expressing a human gene for SOD1 with an ALS-linked mutation develop an ALS phenotype, whereas those with deletion of wild-type SOD1 do not, indicating that acquired toxicity mediated by mutant SOD1 is involved in neurodegeneration.
When the G1896A mutation develops, a compensatory C1858T mutation has to occur to maintain base pairing.
Collectively, these results show that the vast SCA10 intronic repeat mutation develops a resistance to degradation and forms insoluble nuclear aggregates similar to the DM2 repeat mutation.
The first mouse model to carry an NS-causing Shp2 mutation developed a 'triangular' facial appearance and a larger width-to-length ratio of the skull.
A murine model of MED with the Matn3 V194D mutation develops a progressive short-limb dysplasia resulting from decreased chondrocyte proliferation and dysregulated apoptosis.
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