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

Biallelic inactivation of EXT1 in patient-derived iPSCs confirms the "Two-hit" hypothesis in hereditary multiple osteochondromas.

Bioscience trends - 17 May 2026

Yang Yali, Han Zhenzhong, Li Guowei, Li Zihan, Shao Chonghao, Li Wentao, Wang Jing, Luan Jing, Cui Yazhou, Han Jinxiang

Abstract excerpt

Hereditary Multiple Osteochondromas (HMO) is a rare autosomal dominant skeletal disorder caused by heterozygous loss-of-function mutations in EXT1 or EXT2, which encode glycosyltransferases essential for heparan sulfate (HS) biosynthesis. Whether haploinsufficiency alone suffices or biallelic inactivation is required for osteochondroma formation remains a central unresolved question. In this study, we employed...

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 Chondrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chondrogenesis

Share to Exostoses, Multiple Hereditary

Share to Exostosin 1

Share to Induced Pluripotent Stem Cells

Share to Mesenchymal Stem Cells

Share to N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 41882878
DOI: 10.5582/bst.2026.01046

Genes

EXT1
ACAN
COL2A1
EXT2
SOX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic inactivation of EXT1 in patient-derived iPSCs confirms the "Two-hit" hypothesis in hereditary multiple osteochondromas.PMID 41882878Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Semantic proximity Read ↗

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.Semantic proximity Read ↗

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Semantic proximity Read ↗

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Semantic proximity Read ↗

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.Semantic proximity Read ↗

A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.Semantic proximity Read ↗

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