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Transgenic mice carrying pathological PrP mutations develop a spectrum of neurological diseases sharing some features with TSE [11], [12], [13], [14].
B6 double-congenic mice carrying D2-derived Gpnmb and Tyrp1 mutations develop a D2-like iris disease.
For example, hematopoietic progenitors with homozygous NRAS mutations develop a phenotypically different hematopoietic malignancy than similar progenitors harboring heterozygous NRAS mutations.
However, rol-3 s1040ts) rol-3 s1040tsy mutanimals the suppressor mutations doublyp a highly disorganised and ectopically formutantam syncytium when grown at 20° (for. 5j,m and thele 2).
Russo et al. [ 53] showed that cases with a PS1 mutations develop a higher ratio of water-soluble AβpE3-42 AβpE11-42 AβpE11-42ll-lengto Aβ1-42 in comparison to sporadic AD cases.
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It is perhaps worth noting that that human patients carrying the SOD1D90A homozygous mutations develop an atypical slowly progressing form of ALS, and in these patients, inhibitory interneurons are spared.
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].
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.
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).
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