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 recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

American journal of medical genetics. Part A - 1 Aug 2013

Takagi Masaki, Sato Shuhei, Hara Keiichi, Tani Chihiro, Miyazaki Osamu, Nishimura Gen, Hasegawa Tomonobu

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Child, Preschool
Share to DNA
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteogenesis Imperfecta

Share to Polymerase Chain Reaction

Share to Radiography

Share to Recurrence

Source

Identifiers

PMID: 23813632
DOI: 10.1002/ajmg.a.36025

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.PMID 23813632Read ↗

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.Semantic proximity Read ↗

IFITM5 mutations and osteogenesis imperfecta.Semantic proximity Read ↗

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 MutationSemantic proximity Read ↗

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.Semantic proximity Read ↗

A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.Semantic proximity Read ↗

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.Semantic proximity Read ↗

[Genetic mutation and clinical features of osteogenesis imperfecta type V].Semantic proximity Read ↗

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.Semantic proximity Read ↗

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.Semantic proximity Read ↗

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.Semantic proximity Read ↗

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.Semantic proximity Read ↗

Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Semantic proximity Read ↗

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