Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.

American journal of human genetics - 2 Oct 2025

Mekzine Lylia, Pinzón Natalia, Mamchaoui Kamel, Kondili Maria, Cadot Bruno, Bitoun Marc, Trochet Delphine

Abstract excerpt

Allele-specific silencing by RNA interference offers a promising therapeutic approach for dominant inherited diseases through specific silencing of the mRNA produced by the mutated allele. Here, we report the development of such a strategy for Schuurs-Hoeijmakers syndrome (SHMS), a rare neurodevelopmental disorder characterized by intellectual disability, abnormal craniofacial features, and congenital...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Craniofacial Abnormalities
Share to Extracellular Matrix

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Therapy

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to RNA Interference

Share to RNA, Small Interfering

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40972577
DOI: 10.1016/j.ajhg.2025.07.010
PMCID: PMC12696498

Genes

PACS1
COL8A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.PMID 40972577Read ↗

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Semantic proximity Read ↗

Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in <i>NEFL</i>Semantic proximity Read ↗

Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.Semantic proximity Read ↗

Identification of a Family with van der Hoeve's syndrome Harboring a Novel COL1A1 Mutation and Generation of Patient-Derived iPSC Lines and CRISPR/Cas9-Corrected Isogenic iPSCsSemantic proximity Read ↗

Allele-specific gene silencing in osteogenesis imperfecta.Semantic proximity Read ↗

Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.Semantic proximity Read ↗

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusSemantic proximity Read ↗

Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.Semantic proximity Read ↗

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.Semantic proximity Read ↗

Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.Semantic proximity Read ↗

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.Semantic proximity Read ↗

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.