Sentence examples for mutations cause human from inspiring English sources

Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development.

The discovery that NDUFA4 mutations cause human COX deficiency indicates an important role of the NDUFA4 protein in COX function.

Both NDEL1 and NDE1 were identified via their interactions with lissencephaly 1 (LIS1), a gene in which mutations cause human lissencephaly (15– 15).

Resolution of this question is fundamental to full understanding of telomerase mechanism and how heterozygous TERT or telomerase RNA mutations cause human disease.

Hanna and colleagues now demonstrate that NDUFA4 mutations cause human COX deficiency, thus confirming NDUFA4 as a COX subunit that is essential for the enzyme's activity.

These observations support recent work in cell lines suggesting that NDUFA4 is an additional COX subunit and demonstrate that NDUFA4 mutations cause human disease.

Alternative Splicing (AS), which affects most of human genes and is altered in at least 15% of all point mutations causing human genetic disease [2], [3], is a potential critical mechanism for the regulation and fine-tuning of physiological immune responses [4], [5].

To date, all mitochondrial ARSs bearing genetic mutations causing human diseases exhibit compromised aminoacylation activity, and effects on noncanonical functions unrelated to translation have not been demonstrated.

The HGMD (Stenson et al., 2009) documents known mutations causing human inherited disease, as well as disease-associated and/or functional polymorphisms reported in the literature.

Interestingly, most mutations causing human genetic diseases in TRPV4-ARD are located away from the ATP-binding site, suggesting that additional regulatory interactions and mechanisms exist.

Besides a recent genome-wide association study, which identified a CERS2 mutation to be associated with primary rhegmatogenous retinal detachment, 28 CERS2 mutations causing human disorders have, until now, not been reported.