Trinucleotide repeat expansion mutation and preeclampsia

2000 ◽  
Vol 28 (5) ◽  
pp. A300-A300
Author(s):  
K. A. Freed ◽  
E. K. Moses ◽  
D. W. Cooper ◽  
S. P. Brennecke
Keyword(s):  
Trinucleotide Repeat ◽  
Repeat Expansion ◽  
Trinucleotide Repeat Expansion ◽  
Repeat Expansion Mutation ◽  
Expansion Mutation

scholarly journals Disrupting the Molecular Pathway in Myotonic Dystrophy

2021 ◽  
Vol 22 (24) ◽  
pp. 13225
Author(s):  
Xiaomeng Xing ◽  
Anjani Kumari ◽  
Jake Brown ◽  
John David Brook
Keyword(s):  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Trinucleotide Repeat ◽  
Repeat Expansion ◽  
Trinucleotide Repeat Expansion ◽  
Molecular Pathway ◽  
Repeat Expansion Mutation ◽  
Expansion Mutation

Myotonic dystrophy is the most common muscular dystrophy in adults. It consists of two forms: type 1 (DM1) and type 2 (DM2). DM1 is associated with a trinucleotide repeat expansion mutation, which is transcribed but not translated into protein. The mutant RNA remains in the nucleus, which leads to a series of downstream abnormalities. DM1 is widely considered to be an RNA-based disorder. Thus, we consider three areas of the RNA pathway that may offer targeting opportunities to disrupt the production, stability, and degradation of the mutant RNA.

scholarly journals Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ Endothelial Corneal Dystrophy

PLoS ONE ◽  
2019 ◽  
Vol 14 (1) ◽  
pp. e0210996 ◽  
Author(s):  
Yu Qiang Soh ◽  
Gary Peh Swee Lim ◽  
Hla Myint Htoon ◽  
Xin Gong ◽  
V. Vinod Mootha ◽  
...  
Keyword(s):  
Trinucleotide Repeat ◽  
Corneal Dystrophy ◽  
Repeat Expansion ◽  
Clinical Progression ◽  
Trinucleotide Repeat Expansion

scholarly journals Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy

Eye ◽  
2019 ◽  
Vol 34 (5) ◽  
pp. 880-885 ◽  
Author(s):  
Naoki Okumura ◽  
Vilavun Puangsricharern ◽  
Raina Jindasak ◽  
Noriko Koizumi ◽  
Yuya Komori ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Trinucleotide Repeat ◽  
Corneal Dystrophy ◽  
Repeat Expansion ◽  
Trinucleotide Repeat Expansion ◽  
Transcription Factor 4
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