In various populations, polymorphisms in the HNF1A gene are a common cause of maturity-onset diabetes of the young (MODY) [ 7- 10], which is characterized by early age of onset and a marked defect in insulin secretion.
The defects in Vav1-deficient thymic development, including a marked defect in DN3-DN4 transition, were completely reversed by Cbl inactivation, accompanied by enhanced phosphorylation of PLC-γ1 and ERKs in response to pre-TCR/TCR cross-linking of Vav1-/-Cbl-/ DP thymocytes.
Contrary to overexpression of the wild‐type allele, the overexpression of the CHCHD10P34S mutant led to a marked defect of the mitochondrial cristae maintenance characterized by loss and disorganization of cristae morphology (Appendix Fig S7).
As shown in Fig. 1A, p44+/+ mice displayed a marked defect in associative memory retrieval, as assessed by contextual- and cued-fear conditioning tests, which explore amygdala and hippocampal functions.
Consistent with the temperature-dependent cell morphology changes in the pmt mutants, both pmt1A and pmt4A strains displayed a marked defect in growth at elevated temperatures (Figure 5).
By knocking out the β-cell insulin receptor or downstream proteins of the insulin signaling cascade in rodents, Kulkarni et al. (22– 24) demonstrated a marked defect in insulin expression and secretion resembling that of T2DM.
The SDS and CFW hypersensitivity of hwp1−/− imply a marked defect in cell wall composition and structure, which may also explain the filamentation defect.
As described earlier, a marked defect was observed in the class-switched isotypes in the ICOS /– mice (Fig. 1).
The K5::miR-24 animals display a marked defect in HF morphogenesis, with thinning of hair coat and altered HF structure.
There is a marked defect in neutrophil migration into the infectious focus during severe sepsis, which is associated with the severity of disease.
