Sentence examples for molecular defect underlying from inspiring English sources
Ribonucleotide misincorporation was also evident in RNaseH2null embryos, consistent with this molecular defect underlying the developmental phenotype.
Although the primary molecular defect underlying sirenomelia remains unknown, clinical studies have given rise to several hypotheses to explain the causal mechanisms.
Recent studies have implicated hyperactivity of the Akt phosphatase Protein Phosphatase 2A (PP2andand impaired Akt signaling as a molecular defect underlying insulin resistance.
Together, these data suggest that the molecular defect underlying the phenotypes associated with the CUB2/3 point mutations is a weak ability to bind Collagen IV. 10.7554/eLife.05508.012 Figure 5. Point mutations affect Collagen IV binding.
In summary, these studies involving Nuf mice with an activating CaSR mutation demonstrate that NPS 2143-mediated allosterinhibitioniof of the CaSR is able to rectify the molecular defect underlying ADH1 and also improve the reduced plasma calcium and PTH levels that are associated with this disorder.
To determine the molecular defect underlying desmosome alterations, we measured desmosomal cadherins, plakins and armadillo proteins by immunoblotting analysis using total protein extracts from primary keratinocytes under growing conditions (low calcium) and under conditions that allow for the formation of desmosomes (high calcium), as well as from newborn epidermis.
Myocardial copper deficiency and defective cellular copper transport/trafficking are revealed as key molecular defects underlying LV impairment in diabetes, and TETA-mediated restoration of copper regulation provides a potential new class of therapeutic molecules for DCM.
Therefore, this program will be highly useful and versatile for investigating dynamic movement of biological complexes and for understanding molecular defects underlying a wide range of human diseases involving mitochondrial trafficking or formation of aberrant aggregates containing either proteins or nucleic acids.
The molecular defects underlying AS are heterogeneous.
There is a clear need to identify the key molecular defects underlying ALL in hopes of generating new targeted therapies.
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%).
