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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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Laurence Faivre,Gwenaëlle Collod-Béroud,Bert Callewaert,Anne H. Child,Christine Binquet,Elodie Gautier,Bart Loeys,Bart Loeys,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Chantal Stheneur,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Jean-Eric Wolf,O Bouchot,P Khau-Van-Kien,Christophe Béroud,Mireille Claustres,Claire Bonithon-Kopp,Peter N. Robinson,Lesley C. Adès,Lesley C. Adès,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +29 more
TL;DR: Even if the exons 24–32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.
Journal ArticleDOI
Chromosome assignment of a murine glucocorticoid receptor gene (Grl-1) using intraspecies somatic cell hybrids
Uta Francke,Ulrich Gehring +1 more
TL;DR: This study demonstrates the usefulness of intraspecies somatic cell hybrids for mapping purposes as the overall karyotypic stability of such hybrids allows the identification of specific chromosomes eliminated by selection pressure.
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Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4)
Athena Milatovich,Chih-Lin Hsieh,G. Bonaminio,Laurence H. Tecott,David Julius,David Julius,Uta Francke,Uta Francke +7 more
TL;DR: By using somatic cell hybrid analysis and FISH, the HTR1C locus is mapped to the human X chromosome, band q24 and to the mouse X chromosome region D-F4 and new insights are offered into the evolution of human and murine X chromosomes.
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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
Birgitt Schüle,Mohammed Albalwi,Emma L. Northrop,David Francis,Margaret Rowell,Howard R. Slater,R. J McKinlay Gardner,Uta Francke +7 more
TL;DR: It is concluded that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype and LINE and SINE sequences at the exchange points may have contributed to the translocation event.
Journal ArticleDOI
Structural, functional analysis and localization of the human CAP18 gene
TL;DR: Western blot, Northern blot and RT‐PCR analysis show HCAP18 to be produced specifically in granulocytes, and forms the groundwork for future analysis of the genetic regulation of this antimicrobial protein during PMN differentiation.