Browsing by Author "Usdin, Karen"

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Heterozygosity for a hypomorphic polβ mutation reduces the expansion frequency in a mouse model of the fragile x-related disorders

Author: Lokanga, Rachel Adihe ; Senejani, Alireza Ghodsi ; Sweasy, Joann Balazs ; Usdin, Karen Date: 2015 Author Summary Unstable microsatellites are responsible for a number of debilitating human diseases known as the Repeat Expansion Diseases. The unstable microsatellites, which consist of tandem arrays of short repeat units, are prone to ... Read more c b
A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?

Author: Zhao, Xiao-Nan ; Lokanga, Rachel ; Allette, Kimaada ; Gazy, Inbal ; Wu, Di ; Usdin, Karen Date: 2016 Author Summary: The repeat expansion diseases are a group of human genetic disorders that are caused by expansion of a specific microsatellite in a single affected gene. How this expansion occurs is unknown, but previous work in various models ... Read more c b
Somatic expansion of premutation alleles and the role of the mismatch repair and base excision repair proteins on repeat expansion in a mouse model of the fragile X-related disorders

Author: Lokanga, Rachel Adihe Date: 2016 The Fragile X-related disorders arise from an unusual mutation in the X-linked FMR1 gene. The mutation involves expansion, or an increase in the number of repeats, in a CGG•CCG repeat tract located in its 5' untranslated region. FMR1 alleles ... Read more

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