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

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

30 Sept 2013

Abstract excerpt

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to Connective tissue disorders research
Share to Ubiquitin and proteasome pathways

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24079343
DOI: 10.1186/1750-1172-8-154

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humansPMID 24079343Read ↗

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1Semantic proximity Read ↗

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.Semantic proximity Read ↗

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaSemantic proximity Read ↗

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

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.Semantic proximity Read ↗

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.Semantic proximity Read ↗

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.Semantic proximity Read ↗

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Semantic proximity Read ↗

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfectaSemantic proximity Read ↗

Pleotropic effects of a recessive C <i>OL1α2</i> mutation occurring in a mouse model of severe osteogenesis imperfectaSemantic proximity Read ↗

Signaling pathways affected by mutations causing osteogenesis imperfecta.Semantic proximity Read ↗

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