Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

doi:10.1016/j.ajhg.2010.02.022

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

Community

Back to search

Article

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

American journal of human genetics - 9 Apr 2010

Alanay Yasemin, Avaygan Hrispima, Camacho Natalia, Utine G Eda, Boduroglu Koray, Aktas Dilek, Alikasifoglu Mehmet, Tuncbilek Ergul, Orhan Diclehan, Bakar Filiz Tiker, Zabel Bernard, Superti-Furga Andrea, Bruckner-Tuderman Leena, Curry Cindy J R, Pyott Shawna, Byers Peter H, Eyre David R, Baldridge Dustin, Lee Brendan, Merrill Amy E, Davis Elaine C, Cohn Daniel H, Akarsu Nurten, Krakow Deborah

Abstract excerpt

Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I

Share to Genes, Recessive

Share to Homozygote

Share to Osteogenesis Imperfecta

Share to Pedigree

Share to Skin

Share to Tacrolimus Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 20362275
DOI: 10.1016/j.ajhg.2010.02.022
PMCID: PMC2850430

Genes

FKBP10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.PMID 20362275Read ↗

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

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.Semantic proximity Read ↗

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Semantic proximity Read ↗

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.Semantic proximity Read ↗

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.Semantic proximity Read ↗

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

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.Semantic proximity Read ↗

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.Semantic proximity Read ↗

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.Semantic proximity Read ↗

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10 MutationsSemantic proximity Read ↗

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.Semantic proximity Read ↗

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