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
An Imprinted Mouse Transcript Homologous to the Human Imprinted in Prader-Willi Syndrome (IPW) Gene
Rachel Wevrick,Uta Francke +1 more
TL;DR: A mouse gene is cloned that has sequence similarity to a part of IPW and is located in the conserved homologous region of mouse chromosome 7, and it is proposed that Ipw is the murine homolog of IPw.
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Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models
Feng Ding,Yelena Prints,Madhu S Dhar,Dabney K. Johnson,Carmen Garnacho-Montero,Robert D. Nicholls,Uta Francke +6 more
TL;DR: It is concluded that the lack of Pwcr1/MBII-85 snoRNA expression is the most likely cause for the neonatal lethality in PWS model mice.
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Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure
TL;DR: M Males with congenital encephalopathy, not females with RTT, represent the true human counterpart for the commonly studied Mecp2‐/y mouse model and provide unique insight into the mechanisms of MeCP2 deficiency.
Journal Article
Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family.
TL;DR: These results indicate a wide dispersion of the TGF-beta gene family, with genes for T GF-beta 1 previously mapped by us to human chromosome 19q and mouse chromosome 7 and for inhibins alpha, beta B and beta A to human chromosomes 2q33-qter, 2cen-q13 and 7p15-p13, respectively.
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Mutant Fibrillin-1 Monomers Lacking EGF-Like Domains Disrupt Microfibril Assembly and Cause Severe Marfan Syndrome
TL;DR: A long RT-PCR method was developed to rapidly detect exon-skipping mutations in FBN1, a heritable connective tissue disorder that includes the most severe forms of MFS, such as neonatally lethal presentations.