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

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Bone - 1 Apr 2024

Viakhireva I, Bychkov I, Markova T, Shatokhina O, Karandasheva K, Udalova V, Bekhtereva Y, Ryzhkova O, Skoblov M

Abstract excerpt

Pathogenic single nucleotide variants (SNVs) found in the COL2A1 gene are associated with a broad range of skeletal dysplasias due to their impact on the structure and function of the Col2a1 protein. However, the molecular mechanisms of some nucleotide variants detected during diagnostic testing remain unclear. The interpretation of missense and splicing variants caused by SNVs poses a significant challenge for...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type II
Share to Mutation
Share to Nucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 38246255
DOI: 10.1016/j.bone.2024.117013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.PMID 38246255Read ↗

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II CollagenopathiesSemantic proximity Read ↗

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.Semantic proximity Read ↗

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.Semantic proximity Read ↗

De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.Semantic proximity Read ↗

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.Semantic proximity Read ↗

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Semantic proximity Read ↗

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Semantic proximity Read ↗

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.Semantic proximity Read ↗

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Semantic proximity Read ↗

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.Semantic proximity Read ↗

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.Semantic proximity Read ↗

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