Sentence examples for maternal deletion of from inspiring English sources

In one endosperm sample, maternal deletion of class II was also observed (Fig. 4f).

Different mechanisms of UBE3A inactivation correlate with clinical phenotypes of varying severity; the majority of cases of AS are due to a de novo maternal deletion of the 15q11 q13 region.

AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13.

Thus, mice with a maternal deletion from Ube3a to Gabrb3 are molecularly more similar to the AS patients with a large maternal deletion of chromosome15q11 q13.

Using mice carrying a paternal or maternal deletion of Atp10a and Gabrb3, we were able to examine the parental origin of expression for Atp10a and Gabrb3 directly.

Indeed, maternal deletion of TET3 had little impact on 2-cell and inner cell mass transcriptomes (Shen et al., 2014).

The molecular defects underlying AS are heterogeneous, including large maternal deletions of chromosome 15q11 q13 (70%), paternal uniparental disomy (UPD) of chromosome 15 (5%), imprinting mutations (rare), and mutations in the E6-AP ubiquitin ligase gene UBE3A (15%).

Finally, the distinct phenotypes observed in mice bearing paternal and maternal deletions of Bcl-x argue strongly that, even for genes displaying weak-to-moderate biases, the two parental alleles may differ in their functional significance.

As expected, neither the brain-specific maternal deletion nor paternal deletion of Bcl-x had a significant effect on the body weight of adult mice (week 11 12, ∼P80).

In two embryo samples, one paternal deletion (Fig. 4d) and one maternal deletion (Fig. 4e) of class II were observed.

Two mutations were identified in CAPN12, encoding a member of the calpain proteases: a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11).