Evidence map›Paper›PMID 42814309›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2026

Gapmer and Mixmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy.

Sara Aguti, Elena Marrosu, Francesco Muntoni, Haiyan Zhou

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Article in Methods in molecular biology (Clifton, N.J.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Sara Aguti *The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.
Elena Marrosu *The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.
Francesco MuntoniThe Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.
Haiyan ZhouNIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK. haiyan.zhou@ucl.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Allele-specific gene silencing with antisense oligonucleotides (ASOs) or small interfering RNA (siRNA) is a promising strategy for disorders driven by dominant gain-of-function effects. We here present two antisense approaches, gapmer and mixmer ASOs, to mitigate the dominant-negative mechanism underlying Ullrich congenital muscular dystrophy (UCMD) caused by recurrent COL6A3 mutations. We outline the details of methods that our lab has used. The methods comprise the rational ASO design (classical gapmers and mixmers to enhance allele selectivity), in vitro evaluation of allele-specific mRNA knockdown, and protein-level functional assessment. Patient-derived dermal fibroblasts harboring COL6A3 c.6210+1G>A or c.6135_6152del were used as cellular models.

Indexed as

Collagen Type VIMuscular DystrophiesMutationOligonucleotides, AntisenseAllelesFibroblastsGene Knockdown TechniquesGenes, DominantGene SilencingHumansSclerosisCollagen Type VIOligonucleotides, AntisenseAllele-specific silencingAntisense oligonucleotidesCOL6Congenital muscular dystrophyDominant mutationFibroblastsGapmerMixmer

Identifiers

PMID42814309

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.