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Yi Liu, Jiawei Wang, Doudou Ma, Fang Lv, Xiaojie Xu, Weibo Xia, Yan Jiang, Ou Wang, Xiaoping Xing, Peiran Zhou, Jianyi Wang, Wei Yu, Mei Li
INTRODUCTION: Osteogenesis imperfecta (OI) type V is a rare inherited disease characterized by multiple fractures, intraosseous membrane calcification, and hypercallus formation. We investigate the causative gene, phenotype and also observe the effects of zoledronic acid in Chinese OI type V patients. METHODS: The clinical phenotype and causative gene mutation was investigated in eleven patients with type V OI. Patients were given a dose of zoledronic acid 5mg intravenously...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
G Bardai, P Moffatt, F H Glorieux, F Rauch
: We detected disease-causing mutations in 585 of 598 individuals (98 %) with typical features of osteogenesis imperfecta (OI). In mild OI, only collagen type I encoding genes were involved. In moderate to severe OI, mutations in 12 different genes were found; 11 % of these patients had mutations in recessive genes. INTRODUCTION: OI is usually caused by mutations in COL1A1 or COL1A2, the genes encoding collagen type I alpha chains, but mutations in at least 16 other genes have also been associated with OI...
August 11, 2016: Osteoporosis International
Matthew J Gorman, Subhajit Poddar, Michael Farzan, Michael S Diamond
UNLABELLED: The interferon-induced transmembrane protein (IFITM) family of proteins inhibit infection of several different enveloped viruses in cell culture by virtue of their ability to restrict entry and fusion from late endosomes. As few studies have evaluated the importance of Ifitm3 in vivo in restricting viral pathogenesis, we investigated its significance as an antiviral gene against West Nile virus (WNV), an encephalitic flavivirus, in cells and mice. Ifitm3(-/-) mice were more vulnerable to lethal WNV infection, and this was associated with greater virus accumulation in peripheral organs and central nervous system tissues...
September 15, 2016: Journal of Virology
Pradip B Ranaware, Anamika Mishra, Periyasamy Vijayakumar, Pradeep N Gandhale, Himanshu Kumar, Diwakar D Kulkarni, Ashwin Ashok Raut
The molecular pathogenesis of avian influenza infection varies greatly with individual bird species and virus strain. The molecular pathogenesis of the highly pathogenic avian influenza virus (HPAIV) or the low pathogenic avian influenza virus (LPAIV) infection in avian species remains poorly understood. Thus, global immune response of chickens infected with HPAI H5N1 (A/duck/India/02CA10/2011) and LPAI H9N2 (A/duck/India/249800/2010) viruses was studied using microarray to identify crucial host genetic components responsive to these infection...
2016: PloS One
Prajnya Ranganath, Joshi Stephen, Raju Iyengar, Shubha R Phadke
BACKGROUND: Type V osteogenesis imperfecta is characterized by hyperplastic callus formation and interosseus membrane calcification. CASE CHARACTERISTICS: A 16-year-old boy who presented with history of recurrent fractures, had hard persistent swellings at fracture sites, and had radiographic features of hyperplastic callus and interosseus membrane calcification. OUTCOME: Sequence analysis of the IFITM5 gene revealed the c.-14 C>T mutation...
March 2016: Indian Pediatrics
Evelise Brizola, Eduardo P Mattos, Jessica Ferrari, Patricia O A Freire, Raquel Germer, Juan C Llerena, Têmis M Félix
Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical/radiological features, such as calcification of the interosseous membrane (CIM) between the radius-ulna and/or tibia-fibula, hyperplastic callus (HPC) formation, dislocation of the radial head (DRH), and absence of dentinogenesis imperfecta (DI). Recently, a single heterozygous mutation (c.-14C>T) in the 5'UTR of the IFITM5 gene was identified to be causative for OI-V. Here, we describe 7 individuals from 5 unrelated families that carry the c...
October 2015: Molecular Syndromology
Melanie G Pepin, Peter H Byers
Non-accidental injury (NAI) is a major medical concern in the United States. One of the challenges in evaluation of children with unexplained fractures is that genetic forms of bone fragility are one of the differential diagnoses. Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic form of bone disease leading to fractures might be missed if clinical evaluation alone is used to make the diagnosis. Diagnostic clinical features (blue sclera, dentinogenesis imperfecta, Wormian bones on X-rays or positive family history) may not be present or apparent at the age of evaluation...
December 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Peng Chen, Akiko Nagai, Yusuke Tsutsumi, Maki Ashida, Hisashi Doi, Takao Hanawa
In this study, osteogenic differentiation and calcification of preosteoblast (MC3T3-E1) cultured on sputter-deposited titanium (Ti), zirconium (Zr), and gold (Au) on cover glasses were evaluated to understand the differences in bone formation ability among these three metals; these metals show the same high corrosion resistance, but Ti and Zr are covered by surface passive oxide film while Au is not covered by the oxide film. Ti and Zr promoted cellular proliferation without osteogenic differentiation. Cells cultured on Ti and Zr expressed higher levels of Runx2, Col1α1, and Akp2 at an earlier stage, which indicated faster promotion of osteogenic differentiation, as compared to those cultured on Au...
October 21, 2015: Journal of Biomedical Materials Research. Part A
Graham A D Blyth, Wing Fuk Chan, Robert G Webster, Katharine E Magor
UNLABELLED: Interferon-inducible transmembrane proteins (IFITMs) can restrict the entry of a wide range of viruses. IFITM3 localizes to endosomes and can potently restrict the replication of influenza A viruses (IAV) and several other viruses that also enter host cells through the endocytic pathway. Here, we investigate whether IFITMs are involved in protection in ducks, the natural host of influenza virus. We identify and sequence duck IFITM1, IFITM2, IFITM3, and IFITM5. Using quantitative PCR (qPCR), we demonstrate the upregulation of these genes in lung tissue in response to highly pathogenic IAV infection by 400-fold, 30-fold, 30-fold, and 5-fold, respectively...
January 2016: Journal of Virology
Nobutaka Hanagata
Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V...
March 2016: Journal of Bone and Mineral Metabolism
Jacqueline Smith, Jean-Remy Sadeyen, Colin Butter, Pete Kaiser, David W Burt
UNLABELLED: Chicken whole-genome gene expression arrays were used to analyze the host response to infection by infectious bursal disease virus (IBDV). Spleen and bursal tissue were examined from control and infected birds at 2, 3, and 4 days postinfection from two lines that differ in their resistance to IBDV infection. The host response was evaluated over this period, and differences between susceptible and resistant chicken lines were examined. Antiviral genes, including IFNA, IFNG, MX1, IFITM1, IFITM3, and IFITM5, were upregulated in response to infection...
March 2015: Journal of Virology
Xinkai Mo, Yanqin Lu, Jinxiang Han
Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that plays an important role in the mineralization of the matrix in mature osteoblasts. However, understanding of the regulatory mechanism of IFITM5 expression is limited. Emerging evidence indicates that microRNAs (miRNAs) act as pivotal regulators in various biological processes including osteoblast proliferation and differentiation. This study aimed to investigate the impact of miRNAs on IFITM5 expression. Bioinformatic analyses predicted that miR-762 would be a potential regulator of IFITM5...
February 2014: Intractable & Rare Diseases Research
Caressa D Lietman, Ronit Marom, Elda Munivez, Terry K Bertin, Ming-Ming Jiang, Yuqing Chen, Brian Dawson, Mary Ann Weis, David Eyre, Brendan Lee
Osteogenesis imperfecta (OI) type V is characterized by increased bone fragility, long bone deformities, hyperplastic callus formation, and calcification of interosseous membranes. It is caused by a recurrent mutation in the 5' UTR of the IFITM5 gene (c.-14C > T). This mutation introduces an alternative start codon, adding 5 amino acid residues to the N-terminus of the protein. The mechanism whereby this novel IFITM5 protein causes OI type V is yet to be defined. To address this, we created transgenic mice expressing either the wild-type or the OI type V mutant IFITM5 under the control of an osteoblast-specific Col1a1 2...
March 2015: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deforming, with normal sclera; and OI type IV, moderate severity with normal sclera...
November 2014: Jornal de Pediatria
Alexa Patoine, Marie-Hélène Gaumond, Prashant K Jaiswal, François Fassier, Frank Rauch, Pierre Moffatt
BRIL/IFITM5 is a membrane protein present almost exclusively in osteoblasts, which is believed to adopt a type III (N-out/C-out) topology. Mutations in IFITM5 cause OI type V, but the characteristics of the mutant protein and the mechanism involved are still unknown. The purpose of the current study was to re-assess the topology, localization, and biochemical properties of BRIL and compare it to the OI type V mutant in MC3T3 osteoblasts. Immunofluorescence labeling was performed with antibodies directed against BRIL N- or C-terminus...
September 2014: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Syndia Lazarus, Aideen M McInerney-Leo, Fiona A McKenzie, Gareth Baynam, Stephanie Broley, Barbra V Cavan, Craig F Munns, Johannes Egbertus Hans Pruijs, David Sillence, Paulien A Terhal, Karena Pryce, Matthew A Brown, Andreas Zankl, Gethin Thomas, Emma L Duncan
BACKGROUND: The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V...
2014: BMC Musculoskeletal Disorders
Laura C Miller, Zhihua Jiang, Yongming Sang, Gregory P Harhay, Kelly M Lager
Studies have found that a cluster of duplicated gene loci encoding the interferon-inducible transmembrane proteins (IFITMs) family have antiviral activity against several viruses, including influenza A virus. The gene family has 5 and 7 members in humans and mice, respectively. Here, we confirm the current annotation of pig IFITM1, IFITM2, IFITM3, IFITM5, IFITM1L1 and IFITM1L4, manually annotated IFITM1L2, IFITM1L3, IFITM5L, IFITM3L1 and IFITM3L2, and provide expressed sequence tag (EST) and/or mRNA evidence, not contained with the NCBI Reference Sequence database (RefSeq), for the existence of IFITM6, IFITM7 and a new IFITM1-like (IFITM1LN) gene in pigs...
June 15, 2014: Veterinary Immunology and Immunopathology
Charles R Farber, Adi Reich, Aileen M Barnes, Patricia Becerra, Frank Rauch, Wayne A Cabral, Alison Bae, Aaron Quinlan, Francis H Glorieux, Thomas L Clemens, Joan C Marini
Osteogenesis imperfecta (OI) types V and VI are caused, respectively, by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm-like protein most strongly expressed in the skeletal system, and recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but whose serum PEDF level was in the normal range. SERPINF1 sequences were normal despite bone histomorphometry consistent with type VI OI and elevated childhood serum alkaline phosphatase...
June 2014: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Valencia, Ana María Bueno, Victor Martinez-Glez, Vanesa López-González, Birute Burnyte, Algirdas Utkus, Pablo Lapunzina, Victor L Ruiz-Perez
The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius. Notably, in spite of the fact that a considerable number of patients with IFITM5 mutations have been identified, to date all of them have been shown to have the same heterozygous mutation (c...
May 2014: American Journal of Medical Genetics. Part A
Heike Hoyer-Kuhn, Oliver Semler, Lutz Garbes, Katharina Zimmermann, Jutta Becker, Bernd Wollnik, Eckhard Schoenau, Christian Netzer
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by a wide range of skeletal symptoms. Most patients have dominantly inherited or de novo mutations in COL1A1 or COL1A2. Up to 5% of patients have OI type V, characterized by hyperplastic callus formation after fractures, calcification of the interosseous membrane of the forearm, and a mesh-like lamellation pattern observed in bone histology. Recently, a heterozygous mutation in the 5'-untranslated region (UTR) of IFITM5 (c...
June 2014: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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