Aïda Metzenberg

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X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X–linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report(More)
To gain insight into mechanisms of unequal homologous recombination in vivo, genes generated by homologous unequal crossovers in the human beta-globin gene cluster were examined by nucleotide sequencing and hybridization experiments. The naturally occurring genes studied included one delta-beta Lepore-Baltimore fusion gene, one delta-beta Lepore-Hollandia(More)
Chick embryos and their organs were weighed in order to compare retarded growth with accelerated growth. Growth was quickened by incubating eggs in 60% O2/40% N2 and slowed by covering part of the shell of eggs incubated in air. A control group was incubated in air without any covering. At two-day intervals from the twelfth to the eighteenth days inclusive,(More)
Two experiments were performed using White Leghorn eggs incubated in 50% humidity, at 38 degrees centigrade, and an average barometric pressure of 747 Torr. In one experiment, eggs in the experimental group were each half covered with a neoprene membrane, reducing the diffusing capacity by approximately 20%, and incubated in 21% O2. In the second(More)
Lepore globin is synthesized in markedly diminished amounts (approximately 10% to 15% of normal beta-globin) in human erythroid cells. To study the molecular mechanisms responsible for the diminished biosynthesis of Lepore globin, the Lepore-Boston gene was cloned from a charon phage DNA library and expressed in HeLa cells. Northern blotting and S1 nuclease(More)
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