Irma Dianzani

TL;DR: Cloning the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions that suggest a function for R PS19 in erythropoiesis and embryogenesis.

TL;DR: The classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in >10,000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns.

TL;DR: The lack of a consistent relationship between the nature of the mutations and the clinical phenotype implies that yet unidentified factors modulate the phenotypic expression of the primary genetic defect in families with RPS19 mutations.

TL;DR: The data suggest that the ALD patient defect involves the Fas signaling pathway downstream from the sphingomyelinase and that Fas gene mutations and double-negative T-cell expansion are not the only signs of a defective Fas system.

TL;DR: Long‐term dietary vitamin E supplementation in animals undergoing an experimental model of liver fibrosis results in a net inhibition of both hepatic TGFβ1 and α2 (I) procollagen mRNA levels, suggesting that a dietary regimen rich in vitamin E may potentially interfere with both the initiation and progression of the fibrosclerotic processes.