Palladin deficient mice die by day E15.5 and display multiple defects including defective cranial neural tube closure and fetal liver herniation indicating that palladin plays a critical role in embryonic development.
Several other defects including defective endocardial cushion (EC) and aberrant myofibrillogenesis have also been found.
Rescue of extraembryonic defects by tetraploid aggregation in Hand1 null mice (to circumvent peri-implantation lethality) demonstrated cardiac defects including defective looping and failure to establish distinct atria and ventricles and lack of trabeculation (Riley et al., 1998).
Deletion of VCP (or its replacement with disease-relevant mutants) results in disassembly of the lysosomal tubular network and in a series of defects, including defective autophagy and poly-ubiquitin aggregation, linking this unique architecture of the lysosomal system to maintenance of cellular quality control.
The decreased expression of the CD3ζ chain in SLE T cells has been attributed to defects at multiple levels, including defective gene transcription [ 16], aberrant mRNA splicing [ 17], poor transcript stability of alternative splice variants [ 18], and increased protein degradation by caspase-mediated [ 19], ubiquitin-proteasome-mediated and lysosomal-mediated mechanisms [ 20].
Several defects may contribute to the leptin resistant state, including defective leptin transport across the blood-brain barrier, reduced leptin receptor expression, defects in leptin signal transduction, or the induction of feedback inhibitors [10] [7].
Recent topics include defective motorcycle helmets, a faux rabies vaccine, faulty tires and toxic food additives.
Allegations listed in the suit include defective fireproofing, heating, ventilation, air-conditioning, drainage, roofing and flooring.
Hypotheses explaining the susceptibility of DOCK8-deficient patients towards autoimmunity included defective Treg function36.
