Sentence examples for mutations have both from inspiring English sources

Ventricular tachycardia and VF (VT/VF) complicating AMI as well as arrhythmias associated with Brugada syndrome, a genetic disorder linked to SCN5A mutations, have both been linked to phase 2 reentry.

FoldX analysis of the protein crystal structures indicates that the Pro-to-Ala mutations have both local and long-range effects on the structural stability of residues involved in the architecture of the protein and the active site and in the proton pumping function.

The majority of AML patients with CEBPA mutations have both types of mutations, usually on different alleles.

People with FOXP2 mutations have both impaired expressive and receptive language (MacDermot et al. 2005; Watkins et al. 2002a), whereas expressive language appears to be more affected in patients with FOXP1 disruptions (Hamdan et al. 2010; Horn et al. 2010).

TERC and TERT mutations have both been shown to adversely impact telomerase enzymatic function through in vitro assays such as the telomerase repeat amplification protocol [69] and in vitro studies reconstituting telomerase activity with a mix of wild type and mutant TERC suggest that heterozygous mutations can cause disease though haplo-insufficiency [70].

The presence of EGFR mutations has been proposed to be a positive prognostic factor (Eberhard et al, 2005), whereas high-EGFR copy number and the presence of KRAS mutations have both been associated to poor prognosis in resected NSCLC patients (Nelson et al, 1999; Hirsch et al, 2003; Massarelli et al, 2007).

This interpretation is supported by a further analysis of cases reported by Haffty and colleagues [ 28], in which all eight patients with deleterious BRCA1/ BRCA2 mutations had new primary ipsilateral breast cancer, whereas patients without deleterious mutations had both true recurrences and new primary breast cancers (P = 0.06).

Interestingly, mutations in the structural protein cardiac α-actin have been associated with atrial septal defects (Matsson et al., 2008) or cardiomyopathy (Mogensen et al., 1999; Olson et al., 2000; Olson et al., 1998), with some individuals with mutations having both defects (Monserrat et al., 2007).

As has been demonstrated previously in the case of MAPT and GRN-associated FTLD (Rademakers et al., 2007; Beck et al., 2008; Le Ber et al., 2008; Rohrer and Warren, 2011) detailed phenotypic characterization of disease-causing mutations has both clinical and neurobiological implications.

However, for ZNV, the E119G mutation has both direct and indirect influences on the drug binding.

Antagonistic pleiotropy, where a single mutation has both beneficial and detrimental effects, can cause diverse outcomes in the evolution of antibiotic resistance in experimental and clinical populations of bacteria.