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

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.

The Journal of clinical investigation - 15 Feb 1996

Redford-Badwal D A, Stover M L, Valli M, McKinstry M B, Rowe D W

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone fragility. Most cases of severe OI result from mutations in the coding region of the COL1A1 or COL1A2 genes yielding an abnormal collagen alpha chain. In contrast, many patients with mild OI show evidence of a null allele due to a premature stop mutation in the mutant RNA transcript. We have previously described a null...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to Cell Nucleus

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

Share to DNA Primers

Share to Molecular Sequence Data

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 8613526
DOI: 10.1172/JCI118495
PMCID: PMC507150

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

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.PMID 8613526Read ↗

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.Semantic proximity Read ↗

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Semantic proximity Read ↗

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.Semantic proximity Read ↗

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.Semantic proximity Read ↗

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.Semantic proximity Read ↗

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.Semantic proximity Read ↗

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.Semantic proximity Read ↗

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.Semantic proximity Read ↗

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.Semantic proximity Read ↗

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Semantic proximity Read ↗

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.Semantic proximity Read ↗

Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.Semantic proximity Read ↗

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