Chip-Based Microelectrodes for Detection of Single-Nucleotide Mismatch

2005 ◽  
Vol 77 (17) ◽  
pp. 5766-5769 ◽  
Author(s):  
Xiaohong Li ◽  
Yinglin Zhou ◽  
Todd C. Sutherland ◽  
Brian Baker ◽  
Jeremy S. Lee ◽  
...  
Keyword(s):  
Single Nucleotide ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch

scholarly journals Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

Genes ◽  
2019 ◽  
Vol 10 (6) ◽  
pp. 452 ◽  
Author(s):  
Alejandro Garanto ◽  
Lonneke Duijkers ◽  
Tomasz Z. Tomkiewicz ◽  
Rob W. J. Collin
Keyword(s):  
Pluripotent Stem Cells ◽  
Antisense Oligonucleotides ◽  
Autosomal Recessive ◽  
Stargardt Disease ◽  
Single Nucleotide ◽  
Significant Correction ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Splicing Defects ◽  
Induced Pluripotent

Deep-sequencing of the ABCA4 locus has revealed that ~10% of autosomal recessive Stargardt disease (STGD1) cases are caused by deep-intronic mutations. One of the most recurrent deep-intronic variants in the Belgian and Dutch STGD1 population is the c.4539+2001G>A mutation. This variant introduces a 345-nt pseudoexon to the ABCA4 mRNA transcript in a retina-specific manner. Antisense oligonucleotides (AONs) are short sequences of RNA that can modulate splicing. In this work, we designed 26 different AONs to perform a thorough screening to identify the most effective AONs to correct splicing defects associated with c.4539+2001G>A. All AONs were tested in patient-derived induced pluripotent stem cells (iPSCs) that were differentiated to photoreceptor precursor cells (PPCs). AON efficacy was assessed through RNA analysis and was based on correction efficacy, and AONs were grouped and their properties assessed. We (a) identified nine AONs with significant correction efficacies (>50%), (b) confirmed that a single nucleotide mismatch was sufficient to significantly decrease AON efficacy, and (c) found potential correlations between efficacy and some of the parameters analyzed. Overall, our results show that AON-based splicing modulation holds great potential for treating Stargardt disease caused by splicing defects in ABCA4.

scholarly journals The presence of a single-nucleotide mismatch in linker increases the fluorescence of guanine-enhanced DNA-templated Ag nanoclusters and their application for highly sensitive detection of cyanide

RSC Advances ◽  
2018 ◽  
Vol 8 (72) ◽  
pp. 41464-41471 ◽  
Author(s):  
Jun Peng ◽  
Jian Ling ◽  
Qiu-Lin Wen ◽  
Yu Li ◽  
Qiu-E. Cao ◽  
...  
Keyword(s):  
Sensitive Detection ◽  
Single Nucleotide ◽  
Single Base ◽  
Highly Sensitive ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Ag Nanoclusters ◽  
Ag Ncs ◽  
Highly Sensitive Detection

Single-base mismatched G-rich enhanced DNA-Ag NCs for cyanide detection.

Switchable lanthanide luminescent binary probes in efficient single nucleotide mismatch discrimination

2015 ◽  
Vol 211 ◽  
pp. 297-302 ◽  
Author(s):  
Ulla Karhunen ◽  
Eeva Malmi ◽  
Ernesto Brunet ◽  
Juan Carlos Rodríguez-Ubis ◽  
Tero Soukka
Keyword(s):  
Single Nucleotide ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Mismatch Discrimination

SPR-based single nucleotide mismatch biosensor

2011 ◽  
Vol 3 (1) ◽  
pp. 122-132 ◽  
Author(s):  
Eftim Milkani ◽  
Aung M. Khaing ◽  
Sergi Morais ◽  
Christopher R. Lambert ◽  
W. Grant McGimpsey
Keyword(s):  
Single Nucleotide ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch
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