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

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.

Molecular and cellular biochemistry - 1 Jun 2003

Galicka Anna, Wołczyński Sławomir, Gindzieński Andrzej, Surazyński Arkadiusz, Pałka Jerzy

Abstract excerpt

Osteogenesis imperfecta (OI) is a result of heterozygous mutations in the COL1A1 or COL1A2 genes, encoding type I procollagen chains. Here we described the molecular and biochemical defects detected in a case of severe type III OI. Cultured skin fibroblasts from the proband produced both normal and mutant type I collagen which was secreted into the medium. The mutation site was localized in alpha 1(I)-CB3 by CNBr...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Culture Media, Conditioned

Share to Dipeptidases

Share to Glycine

Share to Integrin beta1

Share to Osteogenesis Imperfecta

Share to Receptor, IGF Type 1

Source

Identifiers

PMID: 12870654
DOI: 10.1023/a:1024197213525

Genes

COL1A1
COL1A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.PMID 12870654Read ↗

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.Semantic proximity Read ↗

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Semantic proximity Read ↗

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.Semantic proximity Read ↗

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.Semantic proximity Read ↗

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.Semantic proximity Read ↗

Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.Semantic proximity Read ↗

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.Semantic proximity Read ↗

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findingsSemantic proximity Read ↗

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.Semantic proximity Read ↗

Heritable collagen disorders: from phenotype to genotype.Semantic proximity Read ↗

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.Semantic proximity Read ↗

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Semantic proximity Read ↗

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