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https://www.readbyqxmd.com/read/29499418/diagnostic-strategies-and-genotype-phenotype-correlation-in-a-large-indian-cohort-of-osteogenesis-imperfecta
#1
Julia Mrosk, Gandham SriLakshmi Bhavani, Hitesh Shah, Jochen Hecht, Ulrike Krüger, Anju Shukla, Uwe Kornak, Katta Mohan Girisha
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although differential diagnosis is greatly facilitated by next generation sequencing, its availability can vary considerably. In this study, we compared targeted gene panel or exome sequencing with clinical scoring and grouping in a cohort of 50 OI index patients recruited by a single Indian clinical center in an unselected fashion. In 48 patients we observed a total of 24 novel mutations and 24 known OI mutations, of which several were recurrent...
May 2018: Bone
https://www.readbyqxmd.com/read/29459627/understanding-the-functional-role-of-genistein-in-the-bone-differentiation-in-mouse-osteoblastic-cell-line-mc3t3-e1-by-rna-seq-analysis
#2
Myungsuk Kim, Jisun Lim, Jung-Hee Lee, Kyung-Mi Lee, Suji Kim, Kye Won Park, Chu Won Nho, Yoon Shin Cho
Genistein, a phyto-estrogen, can potentially replace endogenous estrogens in postmenopausal women, but the underlying molecular mechanisms remain incompletely understood. To obtain insight into the effect of genistein on bone differentiation, RNA sequencing (RNA-seq) analysis was used to detect differentially expressed genes (DEGs) in genistein-treated vs. untreated MC3T3-E1 mouse osteoblastic cells. Osteoblastic cell differentiation was monitored by measuring osteoblast differentiation factors (ALP production, bone mineralization, and expression of osteoblast differentiation markers)...
February 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29388328/genotype-and-malocclusion-in-patients-with-osteogenesis-imperfecta
#3
Z Jabbour, A Al-Khateeb, H Eimar, J M Retrouvey, J Rizkallah, F H Glorieux, F Rauch, F Tamimi
OBJECTS: To investigate the relationship between genotype and severity of malocclusion in osteogenesis imperfecta (OI). SETTING AND SAMPLE POPULATION: A total of 49 patients participated in this cross-sectional study (age range: 5-19 years; 28 females; diagnoses: OI type I, N = 7; OI type III, N = 11; OI type IV, N = 27; OI type V, N = 2; OI type VI, N = 2). MATERIALS AND METHODS: Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion...
May 2018: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/29259856/the-expression-profile-of-ifitm-family-gene-in-rats
#4
Yanqin Lu, Qingli Zuo, Yao Zhang, Yanzhou Wang, Tianyou Li, Jinxiang Han
The interferon-inducible transmembrane proteins (IFITMs) are a family of small transmembrane proteins belonging to the interferon (IFN)-stimulated gene (ISG) superfamily and strongly induced by IFNs. In this paper, we studied the expression profile of IFITMs in 32 organ tissues. The IFITM mRNA expression profile showed that IFITM1, IFITM2 and IFITM3 were expressed in each tissue, especially, in spermatophore, spermaduct, testicle and epididymis. The expression of IFITM1, IFITM2 and IFITM3 showed a trend from high to low...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29188603/-genetic-mutation-and-clinical-features-of-osteogenesis-imperfecta-type-v
#5
Shizhen Guan, Xue Bai, Yi Wang, Zhigang Liu, Xiuzhi Ren, Tianke Zhang, Mingyan Ju, Keqiu Li, Guang Li
OBJECTIVE: To explore genetic mutations and clinical features of osteogenesis imperfecta type V. METHODS: Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. RESULTS: A heterozygous mutation (c...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174564/crispr-cas9-engineered-osteogenesis-imperfecta-type-v-leads-to-severe-skeletal-deformities-and-perinatal-lethality-in-mice
#6
Frank Rauch, Yeqing Geng, Lisa Lamplugh, Bahareh Hekmatnejad, Marie-Hélène Gaumond, Janice Penney, Yojiro Yamanaka, Pierre Moffatt
Osteogenesis imperfecta (OI) type V is caused by an autosomal dominant mutation in the IFITM5 gene, also known as BRIL. The c.-14C>T mutation in the 5'UTR of BRIL creates a novel translational start site adding 5 residues (MALEP) in frame with the natural coding of BRIL. A neomorphic function has been proposed for the MALEP-BRIL but the mechanisms at play are still unknown. In order to further understand the effects of MALEP-BRIL in vivo, we generated a knockin (KI) mouse model having the exact genetic -14C>T replica of patients with OI type V...
February 2018: Bone
https://www.readbyqxmd.com/read/29158996/anterior-posterior-gene-expression-differences-in-three-lake-malawi-cichlid-fishes-with-variation-in-body-stripe-orientation
#7
Ehsan Pashay Ahi, Kristina M Sefc
Morphological differentiation among closely related species provides opportunities to study mechanisms shaping natural phenotypic variation. Here, we address variation in the orientation of melanin-colored body stripes in three cichlid species of the tribe Haplochromini. Melanochromis auratus displays a common pattern of dark, straight horizontal body stripes, whereas in Aristochromis christyi and Buccochromis rhoadesii , oblique stripes extend from the anterior dorsal to the posterior mid-lateral trunk. We first validated a stably reference gene, and then, investigated the chromatophore distribution in the skin by assessing the expression levels of the iridophore and melanophore marker genes, ltk and slc24a5 , respectively, as well as pmel , a melanophore pigmentation marker gene...
2017: PeerJ
https://www.readbyqxmd.com/read/29104038/extremely-low-level-of-serum-pigment-epithelium-derived-factor-is-a-special-biomarker-of-chinese-osteogenesis-imperfecta-patients-with-serpinf1-mutations
#8
Jian-Yi Wang, Lu-Jiao Li, Qian Zhang, Yi Liu, Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
BACKGROUNDS: SERPINF1 mutations caused deficiency of pigment epithelium-derived factor (PEDF) and would lead to osteogenesis imperfecta (OI) type VI. However, serum PEDF levels were unclear in Chinese OI patients who had clear molecular diagnosis. OBJECTIVE: To assess PEDF levels in different genotypes of OI, to evaluate the influencing factors of PEDF in Chinese OI patients with clear molecular diagnosis. METHODS: Known candidate genes of OI were examined by a targeted next generation sequence...
March 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28880886/the-osteogenic-cell-surface-marker-bril-ifitm5-is-dispensable-for-bone-development-and-homeostasis-in-mice
#9
Alexa Patoine, Abdallah Husseini, Bahar Kasaai, Marie-Hélène Gaumond, Pierre Moffatt
BRIL (bone-restricted IFITM-like), is a short transmembrane protein expressed almost exclusively in osteoblasts. Although much is known about its bone-restricted gene expression pattern and protein biochemical and topological features, little information is available for BRIL physiological function. Two autosomal dominant forms of osteogenesis imperfecta (OI) are caused by distinct, but recurrent mutations in the BRIL gene. Yet, the underlying mechanisms by which those mutations lead to OI are still poorly understood...
2017: PloS One
https://www.readbyqxmd.com/read/28725987/gene-mutation-spectrum-and-genotype-phenotype-correlation-in-a-cohort-of-chinese-osteogenesis-imperfecta-patients-revealed-by-targeted-next-generation-sequencing
#10
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, W Yu, J Wang, J Sun, L Song, Y Zhu, H Yang, J Wang, M Li
The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which included 45 novel variants. We further did a genotype-phenotype analysis, which helps make a better understanding of OI. INTRODUCTION: This study aims to reveal the gene mutation spectrum and the genotype-phenotype relationship among Chinese OI patients by next generation sequencing (NGS)...
October 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#11
Stéphane Blouin, Nadja Fratzl-Zelman, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Joan C Marini, Frank Rauch
In contrast to "classical" forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted interferon-inducible transmembrane (IFITM)-like protein (BRIL). Its phenotype distinctly differs from OI types I to IV by absence of blue sclerae and dentinogenesis imperfecta, by the occurrence of ossification disorders such as hyperplastic callus and forearm interosseous membrane ossification...
September 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28161961/genome-wide-gene-expression-pattern-underlying-differential-host-response-to-high-or-low-pathogenic-h5n1-avian-influenza-virus-in-ducks
#12
A Kumar, P Vijayakumar, P N Gandhale, P B Ranaware, H Kumar, D D Kulkarni, A A Raut, A Mishra
The differences in the influenza viral pathogenesis observed between different pathogenic strains are associated with distinct properties of virus strains and the host immune responses. In order to determine the differences in the duck immune response against two different pathogenic strains, we studied genome-wide host immune gene response of ducks infected with A/duck/India/02CA10/2011 and A/duck/Tripura/103597/2008 H5N1 viruses using custom-designed microarray. A/duck/India/02CA10/2011 is highly pathogenic virus (HP) to ducks, whereas A/duck/Tripura/103597/2008 is a low pathogenic (LP) virus strain...
2017: Acta Virologica
https://www.readbyqxmd.com/read/28123530/effects-of-the-overexpression-of-ifitm5-and-ifitm5-c-14c-t-mutation-on-human-osteosarcoma-cells
#13
Bao-Yan Liu, Yan-Qin Lu, Feng Han, Yong Wang, Xin-Kai Mo, Jin-Xiang Han
The present study aimed to investigate the effects of overexpression of interferon-induced transmembrane protein 5 (IFITM5) and IFITM5 c.-14C>T mutation on osteogenic differentiation, and the proliferation, migration and invasion of SaOS2 cells. SaOS2 cells were transfected with plasmids containing wild type IFITM5 (W) or IFITM5 containing the c.-14C>T mutation (MU). The mRNA and protein expression levels of IFITM5 in SaOS2 cells were respectively detected by reverse transcription quantitative polymerase chain reaction and western blotting...
January 2017: Oncology Letters
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#14
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28040064/klf5-is-involved-in-regulation-of-ifitm1-2-and-3-genes-during-h5n1-virus-infection-in-a549-cells
#15
H-F Wang, L Chen, J Luo, H-X He
The interferon-induced transmembrane (IFITM) proteins usually protect cells from many virus infections by viral entry and replication. Thus, the present study aimed to identification novel regulation factors of IFITM genes. Our data showed up-regulation of IFITM1, IFITM2, and IFITM3 genes in A549 by H5N1 virus infection. However, IFITM1 was not affected, IFITM2 and IFITM3 increases expression following different concentration H5N1 virus infection in HEK293T cells. This is the first time to find differences of IFITM1 transcription in different cells with the H5N1 virus infection...
November 30, 2016: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/27678411/osteogenesis-imperfecta-type-v-genetic-and-clinical-findings-in-eleven-chinese-patients
#16
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
https://www.readbyqxmd.com/read/27509835/dna-sequence-analysis-in-598-individuals-with-a-clinical-diagnosis-of-osteogenesis-imperfecta-diagnostic-yield-and-mutation-spectrum
#17
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...
December 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27384652/the-interferon-stimulated-gene-ifitm3-restricts-west-nile-virus-infection-and-pathogenesis
#18
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
https://www.readbyqxmd.com/read/27071061/genome-wide-host-gene-expression-analysis-in-chicken-lungs-infected-with-avian-influenza-viruses
#19
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
https://www.readbyqxmd.com/read/27029692/worsening-of-callus-hyperplasia-after-bisphosphonate-treatment-in-type-v-osteogenesis-imperfecta
#20
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
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