U
Uta Francke
Researcher at Stanford University
Publications - 475
Citations - 49980
Uta Francke is an academic researcher from Stanford University. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 108, co-authored 475 publications receiving 48481 citations. Previous affiliations of Uta Francke include McGill University & University of North Carolina at Chapel Hill.
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Journal ArticleDOI
Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins.
M M Huang,S Tsuboi,A Wong,Xiao-Jin Yu,M Oh-Eda,Jonathan M.J. Derry,Uta Francke,M Fukuda,Kenneth I. Weinberg,Donald B. Kohn +9 more
TL;DR: Findings imply a functional linkage between the WAS protein and the expression of the glycosyltransferase involved in the O-glycosylation, and suggest a potential gene therapy via transferring a functional WASp cDNA into hematopoietic cells for Wiskott–Aldrich syndrome.
Journal ArticleDOI
Isolation and chromosomal localization of a novel nonerythroid ankyrin gene.
William T. Tse,Joan C. Menninger,Teresa L. Yang-Feng,Uta Francke,Kenneth E. Sahr,Samuel E. Lux,Samuel E. Lux,David C. Ward,Bernard G. Forget +8 more
TL;DR: By analysis of somatic cell hybrids and fluorescence in situ hybridization, ANK2 was assigned to human chromosome 4 at a position equivalent to bands 4q25-q27, and a labeled fragment of the clone hybridized to a 7-kb message in RNA of fetal brain but not of erythroid cells, suggesting that this clone is part of a novel gene that is expressed predominantly in nonERYthroid tissue.
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Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.
TL;DR: The effect of homozygosity for the E180 splice mutation of the GHR is so profound as to abolish parental influence on height, and there is no difference in the influence of parental stature between carrier and noncarrier offspring.
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Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP).
TL;DR: The cDNA coding for mouse and human rasp21 GTPase-activating protein (GAP) was isolated; the deduced amino acid sequences share over 96% homology with that previously determined for bovine brain GAP.
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The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization.
TL;DR: The chromosomal location of the human TAT gene is determined by Southern blot hybridization analysis of DNAs from 18 humanxrodent hybrid cell lines, using a rat cDNA probe, and it is indicated that the T AT gene maps to chromosome 16.