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

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].

Clinical calcium - 1 Aug 2010

Hasegawa Kosei

Abstract excerpt

Patients with osteogenesis imperfecta (OI) represent various degrees of bone fragility and accompany many clinical manifestations such as dentinogenesis imperfecta, blue sclera, growth disturbance, hearing impairment and so on. Although most OI is caused by genetic mutation of type I collagen gene ; COL1A1 and COL1A2, other genes that concerns post-translational modification of type I collagen molecules such as...

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
Share to Cyclophilins

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

Share to Extracellular Matrix Proteins

Share to Molecular Chaperones

Share to Osteogenesis Imperfecta

Share to Proteoglycans

Share to Tacrolimus Binding Proteins

Source

Identifiers

PMID: 20675929
DOI: CliCa100811901195

Genes

CRTAP
FKBP10
PPIB
SERPINH1

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

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].PMID 20675929Read ↗

What is new in genetics and osteogenesis imperfecta classification?Semantic proximity Read ↗

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.Semantic proximity Read ↗

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counselingSemantic proximity Read ↗

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.Semantic proximity Read ↗

Update on the Genetics of Osteogenesis Imperfecta.Semantic proximity Read ↗

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta DiseaseSemantic proximity Read ↗

Modern classification and molecular-genetic aspects of osteogenesis imperfectaSemantic proximity Read ↗

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis ImperfectaSemantic proximity Read ↗

Osteogenesis imperfecta.Semantic proximity Read ↗

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Semantic proximity Read ↗

Classification of osteogenesis imperfecta.Semantic proximity Read ↗

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].Semantic proximity Read ↗

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