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In addition to the defect in secretory pathway itself, some secreted mutant DSPP may cause defective mineralization.
These results indicate a defect in the migration of renal embryonic endothelial cells that may cause defective glomerulogenesis (Fig. 3A).
Deregulation of these factors may cause defective gene transcription through chromatin [25].
The absence or downregulation of the beta subunit may cause defective secretion of APOB-containing lipoproteins, which would then promote development of beta-lipoproteinemia, an autosomal recessive disease [122], [123].
Consequently, mutations in this region may cause defective integration of dimers into the thick filament leading to accumulation of unassembled MyHC.
Oxidative stress and reactive oxygen species (ROS) are generated from both endogenous and environmental resources, which in turn may cause defective spermatogenesis and male infertility.
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Defective TRIC-B may cause bone disease through defective calcium signaling in bone cells.
Together, these studies suggest that mutations in either parkin or PINK1 may alter mitochondrial turnover, which in turn, may cause the accumulation of defective mitochondria and, ultimately, neurodegeneration in PD (for comprehensive reviews, [101,126 128].
Also, defective deep placentation induces oxidative stress that may cause the clinical disorders related to defective placentation [ 100, 101].
Affected individuals exhibit heart abnormalities (which may cause early death), extra digits, defective dentition, poorly formed nails, dwarfing, and often knock-knees and fusion of hand bones.
Defective positive selection may cause lymphopenia, which has been shown to be a risk factor for autoimmunity [ 57, 58].
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