L Stier

TL;DR: Observations suggest the feasibility of in vivo CFTR gene transfer as therapy for the pulmonary manifestations of CF.

TL;DR: The respiratory epithelium is a potential site for somatic gene therapy for the common hereditary disorders alpha 1-antitrypsin (alpha 1AT) deficiency and cystic fibrosis by infecting epithelial cells of the cotton rat respiratory tract in vitro and in vivo.

TL;DR: The present study characterizes the alpha 1AT deficiency allele Mmalton, an allele that like the common Z deficiency mutation (Glu342----Lys) is associated with both alpha 1 AT deficiency and hepatic disease, and demonstrates that the deletion mutation is responsible for the intracellular accumulation of the newly synthesizedalpha 1AT.

TL;DR: Cloned both alpha 1AT genes from an individual heterozygous for the M1(Ala213) and M1 (Val213) haplotypes demonstrated that they are identical except for the Ala-Val difference at residue 213.

TL;DR: The identification of the Nullmattawa gene supports the concept that Null alpha 1AT alleles represent a heterogenous group in which very different mechanisms cause the identical phenotypic state.