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The first is in animal models in which EoE has been recapitulated in a mouse model.
36 One relatively-common mutation in SLOS (T93M) has been recapitulated in a transgenic 'knockin' mouse model.
The role of DNA damage resulting in accelerated aging has been recapitulated in a number of mouse models (reviewed by Schumacher et al. [ 32]).
Through differentiation of iPSCs along specific lineages, some of the phenotypes of mono-gene diseases have been recapitulated in a dish.
In contrast, small case series suggested that IBD patients of African descent are at greater risk of PSC, [ 26, 27] although this has not been recapitulated in a larger study [ 28].
In animal models, microcephaly is defined as a reduced brain size and it has been recapitulated in a number of genetic mouse models as well as by prenatal exposure to ionizing radiation (Kitamura et al., 2001; Sun et al., 1995).
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In addition, the atypical type 2 PrPSc has not been recapitulated in an experimental transmission of MV2K to PrP-humanized mice carrying the 129M/V genotype [ 13].
The same results were recapitulated in a transwell assay (Fig. 3c, d).
Our experiments investigated whether these changes in dendritic morphology could be recapitulated in a genetic model of NMDAR hypofunction, the serine racemase knockout (SR−/−) mouse.
This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP3,4,5 and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia.
These relationships were recapitulated in a second IDH1-mutant, ATRX-mutant GSC line (GS 8-18) and elevated levels of GNA13 transcript were also seen in third IDH1-mutant ATRX-mutant GSC line (JHH-273) only capable of forming subcutaneous xenografts36 (Supplementary Fig. 7).
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