The importance of XPA in NER is illuminated by evidence demonstrating that of all XP phenotypes, patients deficient in XPA are most severely affected, XPA-deficient mice show a complete deficiency in NER, and XPA-deficient cells are most sensitive to UV irradiation [ 8– 11].
No human repair-deficient disorders have been described so far suffering from a complete deficiency in BER, which may be taken to indicate that BER is essential for human development and survival.
Despite this, the animals could be maintained for 6 7 weeks without developing a complete deficiency phenotype, which is readily apparent within 3 weeks if ascorbate is completely withheld 28, 29.
Bernard Shaw: "Shakespeare's weakness lies in his complete deficiency in that highest sphere of thought in which poetry embraces religion, philosophy, morality.
Prolonged drinking that interferes with an adequate diet may lead to Wernicke disease, which results from an acute complete deficiency of thiamin (vitamin B1) and is marked by a clouding of consciousness and abnormal eye movements.
An ultrasound scan confirmed complete deficiency of the patella tendon.
Diabetes mellitus (DM) is characterized by either complete deficiency of insulin secretion as in type 1 DM(T1DM) or decompensation of the pancreatic β-cells in type 2 DM(T2DM).
The disease is an excellent candidate for gene replacement therapy as the majority of mutations have been shown to lead to a complete deficiency of the secreted protein in the retinal structures.
Complete deficiency of ADNP in mouse embryos results in changes in gene expression profile [45].
Studies over the last several decades have demonstrated that a complete deficiency in factors mediating antibacterial response results in severe mycobacterial infections [4] [6].
All clones displayed normal morphology (Fig. 1D, left panel) and growth, demonstrating that transgenic expression of frataxin rescues the lethality associated with complete deficiency of endogenous frataxin.
