Article

Allele-specific antisense oligonucleotide therapy for dominantly inherited hearing impairment DFNA9

2020-09-30

Abstract excerpt

The c.151C>T founder mutation in COCH is a frequent cause of late onset, dominantly inherited hearing impairment and vestibular dysfunction (DFNA9) in the Dutch/Belgian population. The initial clinical symptoms only manifest between the 3rd and 5th decade of life, which leaves ample time for therapeutic intervention. The dominant inheritance pattern and established non-haploinsufficiency disease mechanism indicat...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 89910ea6-1db0-51f3-916e-d4798351c2ce
DOI: 10.1101/2020.09.29.316364

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Allele-specific antisense oligonucleotide therapy for dominantly inherited hearing impairment DFNA9DOI 10.1101/2020.09.29.316364Read

Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear DisordersSemantic proximity Read

Antisense oligonucleotide therapy mitigates autosomal dominant progressive hearing loss in a murine model of human DFNA2.Semantic proximity Read

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.Semantic proximity Read

Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorderSemantic proximity Read

Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseasesSemantic proximity Read

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.Semantic proximity Read

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatmentsSemantic proximity Read

Novel Loss-of-Function Mutations in <i>COCH</i> Cause Autosomal Recessive Nonsyndromic DeafnessSemantic proximity Read

Antisense drugs for rare and ultra-rare genetic neurological diseasesSemantic proximity Read

RNA base editing therapy cures hearing loss induced by OTOF gene mutation.Semantic proximity Read

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in <i>ABCA4</i>Semantic proximity Read

Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction.Semantic proximity Read