We report three familial early-onset liver cirrhosis pedigrees with homozygous KIF12 mutations, accompanying MASH-like steatosis and cholestasis. The mouse genetic model carrying the corresponding ...

Repeated brain injury resulted in SOD1-ALS mice showing greater weight loss, an earlier tremor in the hind limbs, and ...

Figure 2: Genetic map of 5p15.1 and genomic organization of ANKH. Figure 3: Cosegregation of ANKH mutations with the CMD phenotype. All eight families with mutations in ANKH are shown. We ...

This fundamental work presents two clinically relevant BMP4 mutations that contribute to vertebrate development. The convincing evidence supports that the site-specific cleavage at the BMP4 pro-domain ...

A new study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in eliciting damages to neurons that are most vulnerable in Huntington's disease and ...

Results The p53 mutation acts as a switch to expand progenitor cells and inhibit their differentiation towards metaplasia, but only amidst chronic injury. In L2-IL1β mice, p53 mutation increased ...

2012;7(1):81-92. Homozygous R132H/R132H mice showed no serious overt phenotype, [49] which contrasts the symptoms of a patient with the corresponding mutation. However, the mice did show impaired ...

Parallel studies were performed in a mouse model. Results The patients inherited a novel p.M170I in NFIL3 from each of the parents. The mutant form of NFIL3 demonstrated reduced stability in vitro.