IFITM5 mutations and osteogenesis imperfecta

A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of theIFITM5Mutation

(2015) Caressa D Lietman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression

(2015) Adi Reich et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

(2014) Encarna Guillén-Navarro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Connective tissue alterations in Fkbp10−/− mice

(2014) Caressa D. Lietman et al.   HUMAN MOLECULAR GENETICS

Topological Mapping of BRIL Reveals a Type II Orientation and Effects of Osteogenesis Imperfecta Mutations on Its Cellular Destination

(2014) Alexa Patoine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

(2014) Charles R Farber et al.   JOURNAL OF BONE AND MINERAL RESEARCH

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

(2013) Shawna M. Pyott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp 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

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

Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content

(2013) Arijeet K. Gattu et al.   FASEB JOURNAL

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

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

A Mouse Model for Human Osteogenesis Imperfecta Type VI

(2013) Rosalind Bogan 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 NonclassicalIFITM5Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset

(2013) Heike Hoyer-Kuhn et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

Role of S-Palmitoylation on IFITM5 for the Interaction with FKBP11 in Osteoblast Cells

(2013) Takashi Tsukamoto et al.   PLoS One

Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

(2013) Zeng Zhang et al.   PLoS One

Pigment Epithelium-Derived Factor Enhances Differentiation and Mineral Deposition of Human Mesenchymal Stem Cells

(2013) Feng Li et al.   STEM CELLS

IFITM Proteins Restrict Viral Membrane Hemifusion

(2013) Kun Li et al.   PLoS Pathogens

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

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

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

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

IFITM3 restricts the morbidity and mortality associated with influenza

(2012) Aaron R. Everitt et al.   NATURE

Ifitm3 Limits the Severity of Acute Influenza in Mice

(2012) Charles C. Bailey et al.   PLoS Pathogens

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 FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

(2011) Ortrud K Steinlein et al.   BMC Medical Genetics

Pigment Epithelium-Derived Factor Regulates Lipid Metabolism via Adipose Triglyceride Lipase

(2011) M. L. Borg et al.   DIABETES

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

FKBP12 Binds to Acylated H-Ras and Promotes Depalmitoylation

(2011) Ian M. Ahearn et al.   MOLECULAR CELL

IFITM3 Inhibits Influenza A Virus Infection by Preventing Cytosolic Entry

(2011) Eric M. Feeley et al.   PLoS Pathogens

Distinct Patterns of IFITM-Mediated Restriction of Filoviruses, SARS Coronavirus, and Influenza A Virus

(2011) I-Chueh Huang et al.   PLoS Pathogens

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The Palmitoylation Machinery Is a Spatially Organizing System for Peripheral Membrane Proteins

(2010) Oliver Rocks et al.   CELL

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

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

(2010) Paul Arundel 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

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The IFITM Proteins Mediate Cellular Resistance to Influenza A H1N1 Virus, West Nile Virus, and Dengue Virus

(2009) Abraham L. Brass et al.   CELL

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

(2009) Cord Drögemüller et al.   PLoS Genetics

Double Deficiency of Tetraspanins CD9 and CD81 Alters Cell Motility and Protease Production of Macrophages and Causes Chronic Obstructive Pulmonary Disease-like Phenotype in Mice

(2008) Yoshito Takeda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bril: A Novel Bone-Specific Modulator of Mineralization

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

Normal Germ Line Establishment in Mice Carrying a Deletion of the Ifitm/Fragilis Gene Family Cluster

(2008) U. C. Lange et al.   MOLECULAR AND CELLULAR BIOLOGY