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

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

15 Jan 2019

Abstract excerpt

The cyclic adenosine monophosphate responsive element binding protein 3-like 1 (CREB3L1) gene codes for the endoplasmic reticulum stress transducer old astrocyte specifically induced substance (OASIS), which has an important role in osteoblast differentiation during bone development. Deficiency of OASIS is linked to a severe form of autosomal recessive osteogenesis imperfecta (OI), but only few patients have been...

Read the complete abstract on PubMed

Topics

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

Share to Connective tissue disorders research
Share to Dermatological and Skeletal Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30657919
DOI: 10.1093/hmg/ddz017

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

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaPMID 30657919Read ↗

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

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

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

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

Genotype–Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic SyndromesSemantic proximity Read ↗

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.Semantic proximity Read ↗

Severe osteogenesis imperfecta caused by CREB3L1 mutation in a cat.Semantic proximity Read ↗

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.Semantic proximity Read ↗

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.Semantic proximity Read ↗

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

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.Semantic proximity Read ↗

The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis.Semantic proximity Read ↗

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