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Hao Zhang, Hua Yue, Chun Wang, Weiwei Hu, Jiemei Gu, Jinwei He, Wenzhen Fu, Yunqiu Hu, Miao Li, Zhenlin Zhang
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by brittle bone fractures. The aim of the present study was to investigate the pathogenic gene mutation spectrum and clinical manifestations of mutations in collagen type I, alpha 1 (COL1A1) and collagen type I, alpha 2 (COL1A2) genes in Chinese patients with OI. A total of 61 unrelated Chinese OI patients with COL1A1 and COL1A2 mutations were recruited. All the exons and the exon-intron boundaries of the COL1A1 and COL1A2 genes were amplified and directly sequenced and lumbar spine bone mineral density was measured by dual‑energy X‑ray absorptiometry...
October 12, 2016: Molecular Medicine Reports
Alba Murgia, Elena Veronesi, Olivia Candini, Anna Caselli, Naomi D'souza, Valeria Rasini, Andrea Giorgini, Fabio Catani, Lorenzo Iughetti, Massimo Dominici, Jorge S Burns
In skeletal regeneration approaches using human bone marrow derived mesenchymal stromal cells (hBM-MSC), functional evaluation before implantation has traditionally used biomarkers identified using fetal bovine serum-based osteogenic induction media and time courses of at least two weeks. However, emerging pre-clinical evidence indicates donor-dependent discrepancies between these ex vivo measurements and the ability to form bone, calling for improved tests. Therefore, we adopted a multiparametric approach aiming to generate an osteogenic potency assay with improved correlation...
2016: PloS One
K L Graham, C McCowan, A White
In many health-related fields, there is great interest in the identification of biomarkers that distinguish diseased from healthy individuals. In addition to identifying the diseased state, biomarkers have potential use in predicting disease risk, monitoring disease progression, evaluating treatment efficacy, and informing pathogenesis. This review details the genetic and biochemical markers associated with canine primary glaucoma. While there are numerous molecular markers (biochemical and genetic) associated with glaucoma in dogs, there is no ideal biomarker that allows early diagnosis and/or identification of disease progression...
September 28, 2016: Veterinary Pathology
Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian
Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within the last two decades, there have been growing number of variants identified in genes that follow an autosomal recessive pattern of inheritance. Our proband is a child born in Mexico with multiple fractures of ribs, minimal calvarial mineralisation, platyspondyly, marked compression and deformed long bones...
September 24, 2016: Gene
M Chen, Q R Dong, Q Huang, W Xu, C She
Objective: To investigate the molecular mechanism of low-dose X-ray irradiation on osteoblasts by detecting the gene expression profiles of osteoblasts radiated with 0.5 Gy X-ray. Methods: Microarray analyses to value the changes of gene expression of MC3T3-E1 osteoblasts after 0.5 Gy X-ray irradiation were conducted.The end points included modulation of key markers, and pathway and gene ontology through transcriptomic profiling and bioinformatics analysis. Several major genes during osteoblasts differentiation were selected for Real-time PCR analysis...
September 6, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Zhen-Song Jiang, Zhen-Hai Hao
Polymorphisms located in microRNA (miRNA) binding sites may interfere with the interaction between miRNAs and mRNAs, and thereby alter the expression of genes. The current study aimed to investigate the association between an insertion/deletion (INS/DEL) polymorphism in the 3'‑untranslated region (3'‑UTR) of COL1A2 and the risk of developing osteoporosis. In the present study, COL1A2 was identified as a target gene of let‑7g in osteoblast cells obtained from patients, using a luciferase reporter system...
September 21, 2016: Molecular Medicine Reports
Xiaohong Bi, Ingo Grafe, Hao Ding, Rene Flores, Elda Munivez, Ming Ming Jiang, Brian Dawson, Brendan Lee, Catherine G Ambrose
Osteogenesis Imperfecta (OI) is a group of genetic disorders characterized by brittle bones that are prone to fracture. While previous studies in animal models investigated the mechanical properties and material composition of OI bone, little work has been conducted to statistically correlate these parameters to identify key compositional contributors to the impaired bone mechanical behaviors in OI. Further, while increased TGF-β signaling has been demonstrated as a contributing mechanism to the bone pathology in OI models, the relationship between mechanical properties and bone composition after anti-TGF-β treatment in OI has not been studied...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Yue Guo, Chen-Yi Tang, Xiao-Fei Man, Hao-Neng Tang, Jun Tang, Fang Wang, Ci-La Zhou, Shu-Wen Tan, Yun-Zhi Feng, Hou-De Zhou
Insulin promotes bone formation via a well-studied canonical signaling pathway. An adapter in this pathway, insulin-receptor substrate (IRS)-1, has been implicated in the diabetic osteopathy provoked by impaired insulin signaling. To further investigate IRS-1's role in the bone metabolism, we generated Irs-1-deficient mice (Irs-1(smla/smla)). These null mice developed a spontaneous mutation that led to an increase in trabecular thickness (Tb.Th) in 12-mo-old, but not in 2-mo-old mice. Analyses of the bone marrow stromal cells (BMSCs) from these mice revealed their differential expression of osteogenesis-related genes and miRNAs...
September 13, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Emily Youngblom, Mitzi Leah Murray, Peter H Byers
Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition to bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced if a variant of unknown significance (VUS) is identified. Proper interpretation of VUS in these situations is critical because of its influence on clinical care and in court rulings. This study sought to understand how VUS are interpreted and used by practitioners when there is a differential diagnosis including both osteogenesis imperfecta and non-accidental injury...
September 2016: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
Tetsurou Ikeda, Maria Fragiadaki, Xu Shi-Wen, Markella Ponticos, Korsa Khan, Christopher Denton, Patricia Garcia, George Bou-Gharios, Akio Yamakawa, Chikao Morimoto, David Abraham
This data article contains complementary figures related to the research article entitled, "Transforming growth factor-β-induced CUX1 isoforms are associated with fibrosis in systemic sclerosis lung fibroblasts" (Ikeda et al. (2016) [2],, which presents that TGF-β increased CUX1 binding in the proximal promoter and enhancer of the COL1A2 and regulated COL1. Further, in the scleroderma (SSc) lung and diffuse alveolar damage lung sections, CUX1 localized within the α- smooth muscle actin (α-SMA) positive cells (Fragiadaki et al...
September 2016: Data in Brief
Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu, Ivo Kändla, Ele Prans, Ene Reimann, Aare Märtson, Sulev Kõks
BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI. METHODS: Genomic DNA was extracted from EDTA-preserved blood according to standard high-salt extraction methods. Sequence analysis and pathogenic variant identification was performed with Mutation Surveyor DNA variant analysis software...
2016: Human Genomics
Barbro Malmgren, Kristofer Andersson, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Vasilios Zachariadis, Göran Dahllöf, Eva Åström
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. SUBJECTS AND METHODS: In this cohort study 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI), and congenitally missing teeth...
August 11, 2016: Oral Diseases
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
Bethany Baumann, Tomoko Hayashida, Xiaoyan Liang, H William Schnaper
The function of hypoxia-inducible factor-1α (HIF-1α) in chronic kidney disease is disputed. Here we report that interactions of HIF-1α with transforming growth factor-β (TGF-β) signaling may promote its fibrotic effects. Knockout of HIF-1α is protective against glomerulosclerosis and glomerular type-I collagen accumulation in a mouse podocyte ablation model. Transcriptional analysis of cultured renal cells showed that α2(I) collagen expression is directly regulated by HIF-1α binding to a functional hypoxia-responsive element in its promoter at -335 relative to the transcription start site...
October 2016: Kidney International
Guanwei Li, Jianan Ren, Qiongyuan Hu, Youming Deng, Guopu Chen, Kun Guo, Ranran Li, Yuan Li, Lei Wu, Gefei Wang, Guosheng Gu, Jieshou Li
Inflammatory bowel disease (IBD), particularly Crohn's disease, frequently causes intestinal fibrosis that ultimately leads to formation of strictures requiring bowel resection. Currently there is no effective antifibrotic therapy available for this disease. Pirfenidone is a small compound that has a broad spectrum of antifibrogenic effect and has been used for the treatment of fibrotic diseases in various organs. The present study aimed to investigate the antifibrogenic effect of pirfenidone in a dextran sulfate sodium (DSS)-induced murine colitis model...
October 1, 2016: Biochemical Pharmacology
Pietro Persiani, Filippo Maria Ranaldi, Lorena Martini, Anna Zambrano, Mauro Celli, Patrizia D'Eufemia, Ciro Villani
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures...
August 2016: Medicine (Baltimore)
P Trejo, F Rauch
Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in children. It has been known for three decades that the majority of individuals with OI have mutations in COL1A1 or COL1A2, the two genes coding for collagen type I alpha chains, but in the past 10 years defects in at least 17 other genes have been linked to OI. Almost all individuals with a typical OI phenotype have a mutation in one of the currently known genes. Regarding medical treatment, intravenous bisphosphonate therapy is the most widely used medical approach...
August 5, 2016: Osteoporosis International
Han Wang, Xiuli Zhao, Xiuzhi Ren, Jifang Xiao, Xue Zhang
OBJECTIVE: To identify deletion of large fragment in COL1A1/2 genes among patients with osteogenesis imperfecta (OI). METHODS: Genomic DNA was extracted from peripheral blood samples by a standard SDS-proteinase K-phenol/chloroform method. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect gross deletions of the COL1A1/2 genes among 46 patients affected with OI, in whom no mutation was detected in the sequences of the COL1A1/2 genes...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
N Sevane, S Dunner, A Boado, J Cañon
Equine osteochondrosis (OC) is a frequent developmental orthopaedic disease with high economic impact on the equine industry and may lead to premature retirement of the animal as a result of chronic pain and lameness. The genetic background of OC includes different genes affecting several locations; however, these genetic associations have been tested in only one or few populations, lacking the validation in others. The aim of this study was to identify the genetic determinants of OC in the Spanish Purebred horse breed...
October 2016: Animal Genetics
Radosław Januchowski, Monika Świerczewska, Karolina Sterzyńska, Karolina Wojtowicz, Michał Nowicki, Maciej Zabel
Ovarian cancer is the most lethal gynaecological cancer. The main reason for the high mortality among ovarian cancer patients is the development of drug resistance. The expression of collagen genes by cancer cells can increase drug resistance by inhibiting the penetration of the drug into the cancer tissue as well as increase apoptosis resistance. In this study, we present data that shows differential expression levels of collagen genes and proteins in cisplatin- (CIS), paclitaxel- (PAC), doxorubicin- (DOX), topotecan- (TOP), vincristine- (VIN) and methotrexate- (MTX) resistant ovarian cancer cell lines...
2016: Journal of Cancer
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