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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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Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase.

TL;DR: Southern-blot hybridization of human-rodent cell hybrid genomic DNA indicates that the COXVIIa-M gene maps to a single locus on chromosome 19, designated COX7AM, whereas COX VIIa-L cDNA probes hybridized to fragments from twoCOX7AL loci, on chromosomes 4 and 14.
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The serotonin receptor subtype 2 locus HTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14.

TL;DR: Having mapped HTR-2 to mouse chromosome 14, it is predicted that it falls into this known conserved gene cluster, and linkage studies in CEPH families revealed tight linkage between HTR2 andESD, the locus for esterase D.
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DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency

TL;DR: It is found that DLX5 and DLX6 are biallelically expressed in somatic cell hybrids and in human cell lines and brain, with no differences between affected and control samples, and the results confirm that MeCP2 plays no role in the maintenance of genomic imprinting.
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Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23

TL;DR: Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
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Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.

TL;DR: The results suggest that the human gene for CBS, called CBS, and thus for the most common form of homocystinuria, is located on chromosome 21.