C
Christina L. Liquori
Researcher at University of Minnesota
Publications - 3
Citations - 1278
Christina L. Liquori is an academic researcher from University of Minnesota. The author has contributed to research in topics: Myotonic dystrophy & Haplotype. The author has an hindex of 3, co-authored 3 publications receiving 1211 citations.
Papers
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Journal ArticleDOI
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Christina L. Liquori,Kenneth Ricker,Melinda L. Moseley,Jennifer F. Jacobsen,Wolfram Kress,Susan L. Naylor,John W. Day,Laura P.W. Ranum +7 more
TL;DR: DM2 is caused by a CCTG expansion located in intron 1 of the zinc finger protein 9 (ZNF9) gene, indicating that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.
Journal ArticleDOI
Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract
Christina L. Liquori,Yoshio Ikeda,Marcy R Weatherspoon,Kenneth Ricker,Benedikt Schoser,Joline C. Dalton,John W. Day,Laura P.W. Ranum +7 more
TL;DR: The data suggest that the predominant Northern European ancestry of families with DM2 resulted from a common founder and that the loss of interruptions within the CCTG portion of the repeat tract may predispose alleles to further expansion.
Patent
Intron associated with myotonic dystrophy type 2 and methods of use
TL;DR: In this article, the authors present methods for identifying individuals not at risk for developing myotonic dystrophy type 2 (DM2) and individuals that have or are at risk of developing DM2.