Sentence examples for mutations causing a from inspiring English sources

TP53 has been shown to be the most common somatically mutated gene in HNSCC, with a majority of the mutations causing a disruption in the ability of the protein to transcribe genes important in regulating the cell's response to DNA damage.

Except for mutations causing a few disorders that we know are strongly associated with paternal age, we don't have a good understanding of what is going on".

Resistance to imatinib represents a clinical challenge and is often a result of point mutations causing a conformation change in Bcr-Abl, which impairs imatinib binding.

Particularly, some authors observed that only mutations causing a reduction of Ca2+ influx are associated with cerebellar ataxia in addition to the classical FHM phenotype, whereas in other papers cerebellar signs have been associated with a gain of function in Ca2+ receptor determining lower threshold and lower depolarization level [4, 10].

In his award-winning essay, "One brain, many genomes," which will be published in the 4 November issue of Science, Evrony describes how single-cell sequencing was used to study the first brain-specific somatic mutations causing a rare congenital brain malformation known as hemimegalencephaly.

Mutations causing a missense amino acid substitution at position 741 are associated with both INAD/NBIA (R741W) and dystonia-parkinsonism phenotypes (R741Q).

Among these seven marR mutants, three mutants (CH1, CH3, and CH4) had point mutations causing an amino acid substitution.

All mutations causing an NHS phenotype are null mutations predicted to produce no functional protein.

Altogether, these observations indicate that MYH3 mutations cause a spectrum of diseases including DA, MPS and SCT.

Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia.