Sentence examples for pathogenic compound from inspiring English sources

We previously reported that pathogenic compound heterozygous mutations in ATP13A2 caused loss of ATP13A2 expression and mitochondrial dysfunction (3, 28).

Using an unbiased exome sequencing approach we identified pathogenic compound heterozygous SPG7 mutations in patients with PEO and multiple mitochondrial DNA deletions in skeletal muscle, and confirmed these unexpected findings in a larger cohort of undiagnosed patients with multiple mitochondrial DNA deletions.

The results of preliminary in vitro antifungal tests with eight human pathogenic compounds showed that all of the title compounds exhibited excellent activities against all of the tested fungi except Aspergillus fumigatus.

The fact that we did not observe statistically significant immune reactivity towards the oligomeric species of α-synuclein both in PD patients and controls, which are the most pathogenic compounds causing neuronal cell death (Figure S1), maybe related to the fact that they present transiently and rapidly inter-convert into larger pre-fibrillar or fibrillar species.

Next we examined whether mitochondria from parkin knockdown zebrafish are more susceptible to fragmentation in response to rotenone treatment, as observed in cultured fibroblasts from patients with pathogenic homozygous or compound heterozygous parkin mutations [40].

In these regions, the only plausibly pathogenic mutations were compound heterozygous variants in PI4KA, which Sanger sequencing confirmed segregated consistent with autosomal recessive inheritance.

Thus, WES has solved the limitation of genetic panels in a sporadic patient suffering from familial dilated cardiomyopathy and severe heart failure, identifying pathogenic mutations in compound heterozygous state in ALMS1 gene.

53, 60, 62, 81– 88 NGS data have emerged in HCM, suggesting that double (or triple) or compound pathogenic mutations can be associated with more severe disease expression and an adverse prognosis (eg, heart failure or sudden death, even in the absence of conventional risk markers), with several implications for genetic counselling.

Given the diversity of the pathogenic pathways involved, compounds that target HIF-1 or components of the HIF pathway are actively being sought, and several small-molecule inhibitors of the HIF pathway are currently in clinical trials (Onnis et al, 2009; Tennant et al, 2010).

All patients presented autosomal recessive pattern of inheritance and either homozygous or compound heterozygous pathogenic variants.

This revealed that W. dermatitidis has lost the ability to synthesize alpha-glucan, a cell wall compound many pathogenic fungi use to evade the host immune system.