C
Cheryl K. Johnson
Researcher at Ohio State University
Publications - 9
Citations - 1456
Cheryl K. Johnson is an academic researcher from Ohio State University. The author has contributed to research in topics: Microsatellite instability & Population. The author has an hindex of 9, co-authored 9 publications receiving 1387 citations. Previous affiliations of Cheryl K. Johnson include University College Hospital, Ibadan.
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Journal ArticleDOI
Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
Maaret Ridanpää,Hans van Eenennaam,Katarina Pelin,Robert B. Chadwick,Cheryl K. Johnson,Bo Yuan,Walther J. vanVenrooij,Ger J. M. Pruijn,Riika Salmela,Susanna Rockas,Outi Mäkitie,Ilkka Kaitila,Albert de la Chapelle +12 more
TL;DR: It is concluded that mutations in RMRP cause CHH by disrupting a function of RNase MRP RNA that affects multiple organ systems.
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Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Maria Aminoff,Maria Aminoff,Jo Ellen Carter,Robert B. Chadwick,Cheryl K. Johnson,Ralph Gräsbeck,Mohamed A. Abdelaal,Harald Broch,Lasse Jenner,Pierre J. Verroust,S K Moestrup,Albert de la Chapelle,Albert de la Chapelle,Ralf Krahe +13 more
TL;DR: The genetic and molecular data indicate that mutations in CUBN cause megaloblastic anaemia 1, and two independent disease-specific CUBn mutations in 17 Finnish MGA1 families are identified.
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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Tarja Joensuu,Riikka H. Hämäläinen,Bo Yuan,Cheryl K. Johnson,Saara Tegelberg,Paolo Gasparini,Leopoldo Zelante,Ulla Pirvola,Leenamaija Pakarinen,Anna-Elina Lehesjoki,Albert de la Chapelle,Eeva-Marja Sankila +11 more
TL;DR: The positional cloning of the USH3 gene is reported on, which encodes a 120-amino-acid protein and has two predicted transmembrane domains, and it shows no homology to known genes.
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Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis
Robert B. Chadwick,Guang Liang Jiang,Garth A. Bennington,Bo Yuan,Cheryl K. Johnson,Michael W. Stevens,Theodore H. Niemann,Päivi Peltomäki,Shi Huang,Albert de la Chapelle +9 more
TL;DR: It is proposed that RIZ is a target of the observed 1p alterations, with impairment of the PR domain-mediated function through either frameshift mutation or genomic deletion.
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Polymorphic Variation at the BAT-25 and BAT-26 Loci in Individuals of African Origin: Implications for Microsatellite Instability Testing
Robert E. Pyatt,Robert B. Chadwick,Cheryl K. Johnson,Clement Adebamowo,Albert de la Chapelle,Thomas W. Prior +5 more
TL;DR: The results dispute the quasimonomorphic nature of both BAT-25 and BAT-26 in all populations and support the need for thorough population studies to define the different allelic profiles and frequencies at microsatellite loci.