A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of theIFITM5Mutation
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Title
A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of theIFITM5Mutation
Authors
Keywords
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Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 30, Issue 3, Pages 489-498
Publisher
Wiley
Online
2014-09-23
DOI
10.1002/jbmr.2363
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Note: Only part of the references are listed.- 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
- (2014) Syndia Lazarus et al. BMC MUSCULOSKELETAL DISORDERS
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- (2014) Caressa D. Lietman et al. HUMAN MOLECULAR GENETICS
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- (2014) Alexa Patoine et al. JOURNAL OF BONE AND MINERAL RESEARCH
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- (2013) Shawna M. Pyott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A recurrent mutation in the 5′-UTR ofIFITM5causes osteogenesis imperfecta type V
- (2013) Masaki Takagi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation
- (2013) Jay R Shapiro et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations in WNT1 are a cause of osteogenesis imperfecta
- (2013) Somayyeh Fahiminiya et al. JOURNAL OF MEDICAL GENETICS
- WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
- (2013) Eissa Faqeih et al. JOURNAL OF MEDICAL GENETICS
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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
- Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
- (2012) P.V. Asharani 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
- Evolution of vertebrate interferon inducible transmembrane proteins
- (2012) Danielle Hickford et al. BMC GENOMICS
- Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
- (2012) U. Schwarze et al. HUMAN MOLECULAR GENETICS
- Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix
- (2012) Aileen M. Barnes et al. HUMAN MUTATION
- 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
- Evolutionary Dynamics of the Interferon-Induced Transmembrane Gene Family in Vertebrates
- (2012) Zhao Zhang et al. PLoS One
- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11–CD81–FPRP complex and stimulates expression of interferon-induced genes
- (2011) Nobutaka Hanagata et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
- (2011) Shawna M. Pyott et al. HUMAN MOLECULAR GENETICS
- Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
- (2011) Víctor Martínez-Glez et al. HUMAN MUTATION
- Mutations in SERPINF1 cause osteogenesis imperfecta type VI
- (2011) Erica P Homan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
- (2010) Yasemin Alanay et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
- (2010) Helena E. Christiansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Guidelines for assessment of bone microstructure in rodents using micro-computed tomography
- (2010) Mary L Bouxsein et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
- (2010) Brian P Kelley et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Generalized Connective Tissue Disease in Crtap-/- Mouse
- (2010) Dustin Baldridge et al. PLoS One
- Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
- (2009) Joan C. Marini et al. CELL AND TISSUE RESEARCH
- Severe Osteogenesis Imperfecta in Cyclophilin B–Deficient Mice
- (2009) Jae Won Choi et al. PLoS Genetics
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta
- (2008) Dustin Baldridge et al. HUMAN MUTATION
- Bril: A Novel Bone-Specific Modulator of Mineralization
- (2008) Pierre Moffatt et al. JOURNAL OF BONE AND MINERAL RESEARCH
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