Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
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Glycosaminoglycan synthesis by cultured human skin fibroblasts after transformation with simian virus 40.
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The synthesis of glycosaminoglycans by human skin fibroblasts derived from normal subjects, Hurler and Marfan patients before and after transformation by SV40 virus has been studied. Virus transformation results in a marked increase in hyaluronic acid synthesis in normal and Hurler fibroblasts and, to a lesser extent, in Marfan fibroblasts which show augmented synthesis of this polysaccharide before transformation. There is also an increase in heparan sulfate synthesis but a moderate decrease in dermatan sulfate synthesis on transformation. Incubation of transformed fibroblasts with 4-methylumbelliferyl-beta-D-xyloside results in a marked increase in synthesis of free chondroitin sulfate chains. The synthesis of hyaluronic acid, but not of dermatan sulfate, is inversely proportional to cell density in normal fibroblasts but not in transformed fibroblasts. (+info)
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs.
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Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony.
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Issues of cost and genetics can result in inbreeding of canine genetic disease colonies. Beagles often are used to maintain such colonies, providing stock for outcrosses. Factor VII (FVII) deficiency is a hemostatic disorder found at increased frequency in beagles and has been characterized at the DNA level. Deficiency of FVII presents obstacles in colonies founded with beagles. An initial finding of a FVII-deficient pup from a longstanding colony prompted us to evaluate FVII deficiency fully in this colony. Current and archival records and tissues were used to reconstruct the colony pedigree, assess the contribution from beagles, and test samples to document the source and frequency of the mutant FVII allele. As part of this study we developed a PCR-based diagnostic assay that was simpler than what was previously available. Pedigree analysis revealed a founder effect implicating beagles that led to high frequency (55%) of the mutant allele. In addition, affected animals were identified. The complete picture of the clinical effect within the colony remains unclear, but unusual neonatal presentations, including hemoabdomen, have occurred in pups affected with FVII deficiency. Use of a PCR-based diagnostic assay to screen all potential beagle breeding stock will prevent similar occurrences of FVII deficiency in future canine research colonies. (+info)
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
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