Heterozygous mutations in the mechanoenzyme dynamin (DNM2 ... the authors show antagonistic effects of these mutations and combining them, in mice, mitigates the phenotypic manifestations observed ...

Homozygous and heterozygous mice were identified by the presence ... beginning in intron 3. The maternal mutation was a rare T to G splice junction mutation in intron 10 (21).

Broad Institute researchers have developed a way to edit the genetic sequences at the root of Huntington's disease and ...

Researchers described the SIK3-N783Y mutation in a new study after testing it on sleep-deprived inbred mice.

BACKGROUND: Dilated cardiomyopathy (DCM) is substantially influenced by genetic factors. Sarcomere function is intricately associated with other organelles, particularly the reciprocal regulation ...

BACKGROUND: Desmosomal gene variants (DGVs) have been associated with a diverse spectrum of phenotypic manifestations within ...

The team then studied the mutation in genetically modified mice and found that the mice carrying this mutation also got less shut-eye, according to a new study. The newly identified mutation is ...

Complex traits are influenced by genes and the environment, but especially the latter is difficult to pin down. This important study uses C. elegans to demonstrate that non-genetic differences in gene ...

The treatment, known as immunoablative therapy, has achieved the apparent disappearance of cancer in 80% of 100 participants who share a specific genetic mutation ... The humanized mouse antibody also ...

The authors demonstrate that two human preproprotein human mutations in the BMP4 gene cause a defect in proprotein cleavage and BMP4 mature ligand formation, leading to hypomorphic phenotypes in mouse ...