Sentence examples for mutations when associated from inspiring English sources

These changes are classified as "gain-of-function" (GOF) mutations when they are associated with high levels of LDL-C, and as "loss-of-function" (LOF) mutations when associated with low LDL-C.

These changes are classified as GOF mutations, when associated with high levels of LDL-C, or loss-of-function mutations, when associated with low LDL-C levels.

25 Other reports suggested a synergistic and deleterious effect between LHON-causing mutations when associated with haplogroup J lineage.

The progression of low-risk del 5q) myelodysplastic syndrome to acute myeloid leukemia is increased when associated with mutations of TP53, or with additional chromosomal abnormalities.

We found that RIG-I or MDA5 mutants with low ATP hydrolysis activity exhibit constitutive activity but this was fully reverted when associated with mutations preventing RNA binding to the helicase domain.

Multiple studies have now suggested that Trp53 loss accelerates mammary tumor formation when associated with Brca1 mutations.

The diffuse-type is relatively more frequent in low-risk populations and, when associated with germline mutations of the CDH-1 gene, constitutes the Hereditary Diffuse Gastric Cancer Syndrome (HDGCS) [ 25].

These neuronal overmigrations which represent the hallmark of type II (cobblestone) lissencephaly [ 1, 49, 50] and were initially described as focal when associated with TUBB2B mutations are also a significant feature of tubulin related polymicrogyria and microlissencephaly.

However, while either fold-back or intermolecular switching could still occur in these regions, it is possible that the resulting mutations would not be as deleterious when associated with intergenic regions, or with those intergenic regions solely associated with transcription termination.

This finding is indicative of a modifier effect of Y791F when associated with classical disease-causing RET mutations (Toledo 2010).

It has previously been found that the mutation spectrum induced by UV damage produces deletions only when associated with transcription [35], [36].