The most severe fer-4 seedlings do not survive, but the same range of phenotypes bled true in progeny from less severely defective mutant plants.
Indeed, a recent study showed that lamin B2 knockout mice have severe defects in the brain resulting from defective neuronal migration during development (Coffinier et al., 2010).
Deficiency of those subunits causes severe defects in vascular development: disturbed vessel organization, defective tubulogenesis, hemorrhage, vessel wall rupture, and embryonic death.
X-linked agammaglobulinaemia (XLA) (OMIM # 300755) is a humoural immunodeficiency disease characterised by severe hypogammaglobulinaemia, defective B cell development, and extremely decreased numbers of mature B cells [ 1].
In addition, we found that a severe kinase-defective allele of BUR1 did not affect Not4p phosphorylation.
Another mutant, atnup62-3, harbouring a T-DNA insertion in the same intron as atnup62-1, displays a more severe "embryo-defective" phenotype [ 17], leading to lethality ([ 15], this study).
Congenital Diaphragmatic Hernia (CDH) is a severe birth defect characterized by defective formation of the diaphragm, lunghypoplasia and pulmonary hypertension.
Severe growth defect occurs in a Schizosaccharomyces pombe mutant defective in intron lariat degradation [ 73], which is also true for human RNA lariat debranching enzyme [ 74].
On the way, she had encountered dud radios, severe icing-up, defective brakes and a malfunctioning engine.
In human NK cells, 2B4 can activate cytotoxicity and interferon (IFN -γ productIFN -γrough SLAM- associated productionAP), an SH2 domain-conthrough adaptor molecule which reSLAMs in severe immunodeficiency when defective (Tangye et al., 2000).
