A NonclassicalIFITM5Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

(2013) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype–phenotype study in type V osteogenesis imperfecta

(2013) Meena Balasubramanian et al.   CLINICAL DYSMORPHOLOGY

Regulation of the Bone-restricted IFITM-like (Bril) Gene Transcription by Sp and Gli Family Members and CpG Methylation

(2013) Bahar Kasaai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

(2013) Jay R Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene

(2013) Monica Grover et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

(2012) Frank Rauch et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

(2010) Nobutaka Hanagata et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Bril: A Novel Bone-Specific Modulator of Mineralization

(2008) Pierre Moffatt et al.   JOURNAL OF BONE AND MINERAL RESEARCH