Sentence examples for mutations and human from inspiring English sources

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.

Hambleton, S. et al. IRF8 mutations and human dendritic-cell immunodeficiency.

7 One of the most surprising findings was the discovery in 2004 of a link between cohesin gene mutations and human developmental abnormalities.

In transgenic mice expressing different APP mutants, down regulation of SREBP1 was observed in brain independently of APP mutations and human PS1 expression.

The diversity of new forms derived through a combination of accumulation of somatic mutations and human selection has led Ortiz (1997 a ) to consider sub-Saharan Africa as a secondary centre of banana diversity.

The fact that two different genes control anthocyanin root pigmentation in unrelated genetic backgrounds suggests that independent mutations and human selection events may have contributed to the domestication of purple carrots.

So far, CAPN3 mutations and LGMD2A have the only clearly demonstrated cause-and-effect relationship between a calpain gene mutation and human disease; thus, LGMD2A is also called calpainopathy.

Annotation on databases of genetic variation and human disease mutations revealed several novel, potentially deleterious mutations.

Albin, R. L. Antagonistic pleiotropy, mutation accumulation, and human genetic disease.

Leptin is the product of the Obese gene (ob), and loss of function mutations in mouse and human ob genes results in profound obesity and T2DM[103, 104].

Therefore, a defect in Prp3 binding may underlie the splicing defects of these U6 snRNA mutations in yeast and human.