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

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

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

A Mouse Model for Human Osteogenesis Imperfecta Type VI

(2013) Rosalind Bogan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

(2013) Takashi Tsukamoto 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

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

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI

(2012) Frank Rauch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Systems Genetic Analysis of Osteoblast-Lineage Cells

(2012) Gina Calabrese et al.   PLoS Genetics

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

Interactome Networks and Human Disease

(2011) Marc Vidal et al.   CELL

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

(2011) M. L. Borg et al.   DIABETES

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Lack of expression ofSERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

(2011) Giacomo Venturi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Mouse Genome-Wide Association and Systems Genetics Identify Asxl2 As a Regulator of Bone Mineral Density and Osteoclastogenesis

(2011) Charles R. Farber et al.   PLoS Genetics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

The Pathophysiological Role of PEDF in Bone Diseases

(2010) M.L. Broadhead et al.   CURRENT MOLECULAR MEDICINE

A high-resolution association mapping panel for the dissection of complex traits in mice

(2010) B. J. Bennett et al.   GENOME RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

PEDF regulates osteoclasts via osteoprotegerin and RANKL

(2009) Toru Akiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Characterization of PEDF: A multi-functional serpin family protein

(2009) S. Filleur et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation

(2008) Abimbola A. Obafemi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Bril: A Novel Bone-Specific Modulator of Mineralization

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

Bone sialoprotein and its transcriptional regulatory mechanism

(2007) Y. Ogata   JOURNAL OF PERIODONTAL RESEARCH