Sentence examples for cellular defect is from inspiring English sources

The importance of ankyrin in maintaining membrane structural integrity is highlighted in erythrocytes where the majority of human hereditary spherocytosis cases actually result from mutations of ankyrin R and not spectrin, even though the common cellular defect is a defective spectrin lattice (10, 11).

In these diseases, the underlying cellular defect is in the generation, organization or function of a specialized organelle, called the primary cilium.

Insofar as the cellular defect is generalized, both hepatic and peripheral tissues (skeletal muscle and adipocytes), and possibly the β-cells themselves, would manifest insulin resistance, and the numerous metabolic alterations characteristic of the diabetic state could be related to one and the same primary defect.

Analysis of single COX-deficient cells in these studies revealed that the cellular defect was directly caused by clonally expanded somatic mtDNA point mutations.

The resultant cellular defect was identical in both of the patient cell lines analysed and manifested as a profound loss of mitochondrial OXPHOS complexes I and IV.

However, the degree of this cellular defect was most pronounced for p.Q234P, the only variant which demonstrated global defects in protein expression, GCK interaction, F1P affinity and F6P affinity (Figs  1A and 2A C).

The impact of aggregated PABPN1 on cellular defects is not fully understood.

Cellular degeneration, debris or large cellular defects were not seen in the cores of cataractous lens nuclei.

These cellular defects were associated with altered actin, myosin and ZO1 distributions.

While the authors quantify brood sizes, they do not indicate whether the distal gonad cellular defects are reproducible.

These cellular defects are similar to, but somewhat more severe, than those reported for hearing-impaired Spry2−/− mice, in which FGF signalling is increased by relief of negative regulation (14).