Sentence examples for molecular defect is from inspiring English sources

Future studies will further explore the structural implications of the functional results herein presented, and define whether such specific molecular defect is associated with distinct clinical features.

AMM is one of the MPDs for which the molecular defect is unknown.

Such molecular defect is based on the expansion of this triplet that codes amino acid glutamine.

In many patients with PEO, the underlying molecular defect is either a point mutation or a single, large-scale rearrangement of mitochondrial DNA (Moraes et al., 1989).

Similarly, from the published collection of 170 mouse mutants with neural tube defects [ 37] for which the underlying molecular defect is known, 55 genes (32% of 170) were identified in Experiment II.

FL arises from germinal center B cells and the most common molecular defect is t(14 18)(q32;q21) in 85 90% of the cases, which results in the IGH-BCL2 fusion gene and the overexpression of the anti-apoptotic oncogene BCL2.

The abnormal protein was identified in the 1940s, the precise molecular defect was identified in the 1950s, and the three-dimensional structure of the protein was defined in the 1960s.

Gluco- and lipitoxicity are considered to play key roles in the development of type 2 diabetes [1], [2], with the primary molecular defect being impaired insulin-stimulated glucose transport and decreased glycogen synthesis in skeletal muscle [3].

The underlying molecular defect was demonstrated to be a homozygous T-to-A transversion mutation in position 771 of the Enpp1 gene resulting in homozygous p.V246D substitution.

A stratified and targeted approach based on the underlying molecular defects is evolving.

Similarly, data on tumor risk for specific molecular defects is too limited to be clinically useful at this time, although the studies noted above have reported high tumor risk with methylation of H19 with or without UPD.