Osteogenesis Imperfecta, an Ever-Expanding Conundrum

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

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

A Mouse Model for Human Osteogenesis Imperfecta Type VI

(2013) Rosalind Bogan 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

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE 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

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

New insights into NPP1 function: Lessons from clinical and animal studies

(2012) N.C.W. Mackenzie et al.   BONE

S-Palmitoylation and Ubiquitination Differentially Regulate Interferon-induced Transmembrane Protein 3 (IFITM3)-mediated Resistance to Influenza Virus

(2012) Jacob S. Yount et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

The N-Terminal Region of IFITM3 Modulates Its Antiviral Activity by Regulating IFITM3 Cellular Localization

(2012) R. Jia et al.   JOURNAL OF VIROLOGY

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

(2012) Michael P. Whyte et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Dispanins: A Novel Gene Family of Ancient Origin That Contains 14 Human Members

(2012) Markus Sällman Almén et al.   PLoS One

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

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

Identification of a Novel Inhibitor of the Canonical Wnt Pathway

(2011) K. Park et al.   MOLECULAR AND CELLULAR BIOLOGY

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Pigment Epithelium-Derived Factor (PEDF) Interacts with Transportin SR2, and Active Nuclear Import Is Facilitated by a Novel Nuclear Localization Motif

(2011) Sergio Anguissola et al.   PLoS One

Pigment epithelium-derived factor binds to cell-surface F1-ATP synthase

(2010) Luigi Notari et al.   FEBS Journal

Palmitoylome profiling reveals S-palmitoylation–dependent antiviral activity of IFITM3

(2010) Jacob S Yount et al.   Nature Chemical Biology

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

(2009) Abraham L. Brass et al.   CELL

Laminin Receptor Involvement in the Anti-angiogenic Activity of Pigment Epithelium-derived Factor

(2009) Adrien Bernard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of PEDF: A multi-functional serpin family protein

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

PEDF-deficient mice exhibit an enhanced rate of retinal vascular expansion and are more sensitive to hyperoxia-mediated vessel obliteration

(2008) Qiong Huang et al.   EXPERIMENTAL EYE RESEARCH

Bril: A Novel Bone-Specific Modulator of Mineralization

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