Sentence examples for mutations cause abnormal from inspiring English sources

Because over 70 disease-linked GRN mutations cause abnormal deficiencies in the production of PGRN, a protein that plays a crucial role in embryogenesis, cell growth and survival, wound repair and inflammation, researchers now aim to design therapies that would increase PGRN levels in affected individuals, thereby alleviating the symptoms associated with disease.

Our results indicate that Parkin mutations cause abnormal mitochondrial function and morphology in non-neuronal human cells.

18, 19 Its mutations cause abnormal synaptic dopamine neurotransmission in both LRRK2 knockin and transgenic animal models.

In type II AECs, ABCA3 mutations cause abnormal processing, trafficking, and functionality of the ABCA3 protein [ 41, 42], resulting in impaired lipid transport [ 43] or retention in the ER compartment and elevated ER stress and apoptotic signaling [ 44].

SOST is a soluble antagonist of Wnt signaling [ 12] and it has been demonstrated that SOST loss-of-function mutations cause abnormal skeletal phenotypes in humans, characterized by high bone mineral density [ 13, 14], whereas transgenic mice that overexpress SOST are osteopenic due to reduced bone formation [ 15].

This suggests that the mutations caused abnormal trafficking of the channels to the plasma membrane compared to WT.

This disease is often associated with mutations causing abnormal increases in tyrosine kinase activity and growth factor-independent proliferation of bone marrow progenitors.

These results indicated that the tcm5 mutation causes abnormal chloroplast development at high temperatures.

The fish has a splice site mutation causing abnormal splicing of nebulin exon 43.

Mouse knockout studies show that NFIA mutation results in hydrocephalus and abnormal brain development [8], NFIB mutation causes retarded lung development [9] and NFIC mutation causes abnormal tooth development [10], with very little overlap in phenotypes.

The mutation causes abnormal splicing that result in the truncation of exon 4 followed by a stop codon.