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

A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells.

PloS one - 1 Jan 2025

Canalis Ernesto, Yu Jungeun, Schilling Lauren, Jafar-Nejad Paymaan, Carrer Michele

Abstract excerpt

Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia that is ameliorated by the administration of Notch3 antisense oligonucleotides (ASO) targeting either Notch3 or the Notch3 mutation. To determine the consequences of LMS pathogenic variants in human cells and...

Read the complete abstract on PubMed

Topics

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

Share to Cell Differentiation
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Oligonucleotides, Antisense

Share to Osteogenesis

Share to Receptor, Notch3

Share to Receptors, Notch

Source

Open in PubMed Open full text

Identifiers

PMID: 39752389
DOI: 10.1371/journal.pone.0316644
PMCID: PMC11698389

Genes

NOTCH3
ALPL
BGLAP
HES1
HEY1
NANOG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells.PMID 39752389Read ↗

Antisense oligonucleotides targeting a NOTCH3 mutation in male mice ameliorate the cortical osteopenia of lateral meningocele syndrome.Semantic proximity Read ↗

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.Semantic proximity Read ↗

Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice.Semantic proximity Read ↗

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.Semantic proximity Read ↗

Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal developmentSemantic proximity Read ↗

Upregulation of lncRNA MEG3 Promotes Osteogenic Differentiation of Mesenchymal Stem Cells From Multiple Myeloma Patients By Targeting BMP4 TranscriptionSemantic proximity Read ↗

Inactivation of Menin, the Product of the Multiple Endocrine Neoplasia Type 1 Gene, Inhibits the Commitment of Multipotential Mesenchymal Stem Cells into the Osteoblast LineageSemantic proximity Read ↗

Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome.Semantic proximity Read ↗

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.Semantic proximity Read ↗

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