In cerebellar development, MDM2 deficiency mimics aspects of Shh deficiency.
In vivo studies by Watanabe et al., showed that CsA treated FOXN1 deficient (nude) mice overcome some aspects of FOXN1 deficiency, that is, they displayed hair re-growth [ 17].
The various mouse and human myoblast cell lines we have described here, although useful for studying the cell biological aspects of dysferlin deficiency in muscle cells in vitro, do not support a role for dysferlin deficiency in myoblast differentiation in culture.
Andres, E. et al. Clinical aspects of cobalamin deficiency in elderly patients.
Perhaps the most useful site currently available is the G6PD Deficiency Association, which "offers assistance to persons affected by the G6PD enzyme deficiency and their families, including helping them protect their social rights and collect their benefits, informing and educating affected persons and the medical community on all aspects of the deficiency".
Our studies reveal novel aspects of heme deficiency pathogenesis and should offer new ways to diagnose and treat individuals that have porphyria.
Surprisingly, we found reduced IFN-γ production upon IL-12 stimulation in Stat1 −/− and Stat1-S727A NK cells: Stat1-S727A mutation can thus phenocopy some aspects of Stat1 deficiency.
The clinical, biochemical, and molecular aspects of CBS deficiency have recently been reviewed in detail [ Kožich and Kraus, 2001; Mudd et al., 2001].
It has long been known that inflammation can mimic some aspects of iron deficiency by impairing the utilization of existing iron stores for red cell production and inducing an iron-sequestration syndrome and low serum iron.
For example the protective aspect of pyruvate kinase deficiency was first identified in the mouse model [34] and has subsequently been linked to resistance in human populations as well [35].
Contrasting with the morphological aspect of the 5α-R2 deficiency patient's testis, all seminiferous tubules studied in the CAIS patient intensively expressed AMH.
