Cell-type specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy

2020 ◽  
Author(s):  
Curtis Nutter
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Cell Type ◽  
Cell Type Specific ◽  
Short Tandem

scholarly journals Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy

2019 ◽  
Vol 33 (23-24) ◽  
pp. 1635-1640 ◽  
Author(s):  
Curtis A. Nutter ◽  
Jodi L. Bubenik ◽  
Ruan Oliveira ◽  
Franjo Ivankovic ◽  
Łukasz J. Sznajder ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Cell Type ◽  
Cell Type Specific ◽  
Short Tandem

scholarly journals A Short Tandem Repeat-Enriched RNA Assembles a Nuclear Compartment to Control Alternative Splicing and Promote Cell Survival

2018 ◽  
Vol 72 (3) ◽  
pp. 525-540.e13 ◽  
Author(s):  
Karen Yap ◽  
Svetlana Mukhina ◽  
Gen Zhang ◽  
Jason S.C. Tan ◽  
Hong Sheng Ong ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Cell Survival ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Nuclear Compartment ◽  
Promote Cell Survival ◽  
Short Tandem

scholarly journals Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy

2019 ◽  
Vol 20 (13) ◽  
pp. 3365 ◽  
Author(s):  
Łukasz J. Sznajder ◽  
Maurice S. Swanson
Keyword(s):  
Myotonic Dystrophy ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Rna Foci ◽  
Repeat Expansions ◽  
Multivalent Interactions ◽  
Short Tandem

Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 (DM1) and 2 (DM2). Current disease models for DM1 and DM2 propose a common pathomechanism, whereby the transcription of mutant DMPK (DM1) and CNBP (DM2) genes results in the synthesis of CUG and CCUG repeat expansion (CUGexp, CCUGexp) RNAs, respectively. These CUGexp and CCUGexp RNAs are toxic since they promote the assembly of ribonucleoprotein (RNP) complexes or RNA foci, leading to sequestration of Muscleblind-like (MBNL) proteins in the nucleus and global dysregulation of the processing, localization and stability of MBNL target RNAs. STR expansion RNAs also form phase-separated gel-like droplets both in vitro and in transiently transfected cells, implicating RNA-RNA multivalent interactions as drivers of RNA foci formation. Importantly, the nucleation and growth of these nuclear foci and transcript misprocessing are reversible processes and thus amenable to therapeutic intervention. In this review, we provide an overview of potential DM1 and DM2 pathomechanisms, followed by a discussion of MBNL functions in RNA processing and how multivalent interactions between expanded STR RNAs and RNA-binding proteins (RBPs) promote RNA foci assembly.

scholarly journals Allele frequencies of 23 short tandem repeat loci in the Vietnamese Kinh population

2021 ◽  
pp. 100210
Author(s):  
Thi Thanh Hoan Vu ◽  
Thi Thu Mai Do ◽  
Thi Hoai Nguyen ◽  
Quoc Hai Luyen
Keyword(s):  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Allele Frequencies ◽  
Short Tandem Repeat Loci ◽  
Short Tandem

Automated estimation of the number of contributors in autosomal short tandem repeat profiles using a machine learning approach

2019 ◽  
Vol 43 ◽  
pp. 102150 ◽  
Author(s):  
Corina C.G. Benschop ◽  
Jennifer van der Linden ◽  
Jerry Hoogenboom ◽  
Rolf Ypma ◽  
Hinda Haned
Keyword(s):  
Machine Learning ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Learning Approach ◽  
Machine Learning Approach ◽  
Short Tandem

Structural variation of novel alleles at the Hum vWA and Hum FES/FPS short tandem repeat loci

1995 ◽  
Vol 108 (1) ◽  
pp. 31-35 ◽  
Author(s):  
M. D. Barber ◽  
R. C. Piercy ◽  
J. F. Andersen ◽  
B. H. Parkin
Keyword(s):  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Structural Variation ◽  
Short Tandem Repeat Loci ◽  
Novel Alleles ◽  
Short Tandem

Analysis of short tandem repeat (STR) HUMVWA in the Spanish population

1994 ◽  
Vol 65 (3) ◽  
pp. 169-175 ◽  
Author(s):  
Jose A. Lorente ◽  
Miguel Lorente ◽  
Bruce Budowle ◽  
Mark R. Wilson ◽  
Enrique Villanueva
Keyword(s):  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Spanish Population ◽  
Short Tandem
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