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https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#1
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29281143/the-soluble-guanylate-cyclase-stimulator-iw-1973-prevents-inflammation-and-fibrosis-in-experimental-non-alcoholic-steatohepatitis
#2
Roger Flores-Costa, José Alcaraz-Quiles, Esther Titos, Cristina López-Vicario, Mireia Casulleras, Marta Duran-Güell, Bibiana Rius, Alba Diaz, Katherine Hall, Courtney Shea, Renee Sarno, Mark Currie, Jaime L Masferrer, Joan Clària
BACKGROUND AND PURPOSE: Non-alcoholic steatohepatitis (NASH) is the hepatic manifestation of the metabolic syndrome and is characterized by steatosis, inflammation and fibrosis. Soluble guanylate cyclase (sGC) stimulation reduces inflammation and fibrosis in experimental models of lung, kidney and heart disease. Here, we tested whether sGC stimulation is also effective in experimental NASH. EXPERIMENTAL APPROACH: Mice (n=35) were induced to NASH by a choline-deficient, L-amino acid-defined, high-fat (CDAAH) diet and received either placebo or the sGC stimulator IW-1973 at two different doses (1 and 3 mg/kg/day) for 9 weeks...
December 27, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29245016/preferential-myofibroblast-differentiation-of-cardiac-mesenchymal-progenitor-cells-in-the-presence-of-atrial-fibrillation
#3
Elisa Gambini, Gianluca Lorenzo Perrucci, Beatrice Bassetti, Gabriella Spaltro, Giulia Campostrini, Maria Chiara Lionetti, Alberto Pilozzi, Federico Martinelli, Andrea Faruggia, Dario DiFrancesco, Andrea Barbuti, Giulio Pompilio
Atrial fibrillation (AF) is characterized by electrical, contractile, and structural remodeling mediated by interstitial fibrosis. It has been shown that human cardiac mesenchymal progenitor cells (CMPCs) can be differentiated into endothelial, smooth muscle, and fibroblast cells. Here, we have investigated, for the first time, the contribution of CMPCs in the fibrotic process occurring in AF. As expected, right auricolae samples displayed significantly higher fibrosis in AF vs control (CTR) patients. In tissue samples of AF patients only, double staining for c-kit and the myofibroblast marker α-smooth muscle actin (α-SMA) was detected...
November 27, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29240779/impact-of-maternal-high-fat-diet-on-hypothalamic-transcriptome-in-neonatal-sprague-dawley-rats
#4
Sanna Barrand, Tamsyn M Crowley, Ryan J Wood-Bradley, Kirstie A De Jong, James A Armitage
Maternal consumption of a high fat diet during early development has been shown to impact the formation of hypothalamic neurocircuitry, thereby contributing to imbalances in appetite and energy homeostasis and increasing the risk of obesity in subsequent generations. Early in postnatal life, the neuronal projections responsible for energy homeostasis develop in response to appetite-related peptides such as leptin. To date, no study characterises the genome-wide transcriptional changes that occur in response to exposure to high fat diet during this critical window...
2017: PloS One
https://www.readbyqxmd.com/read/29236161/genetic-analysis-of-adults-heterozygous-for-alpl-mutations
#5
Agnès Taillandier, Christelle Domingues, Annika Dufour, Françoise Debiais, Pascal Guggenbuhl, Christian Roux, Catherine Cormier, Bernard Cortet, Valérie Porquet-Bordes, Fabienne Coury, David Geneviève, Jean Chiesa, Thierry Colin, Elaine Fletcher, Agnès Guichet, Rose-Marie Javier, Michel Laroche, Michael Laurent, Ekkehart Lausch, Bruno LeHeup, Cédric Lukas, Georg Schwabe, Ineke van der Burgt, Christine Muti, Brigitte Simon-Bouy, Etienne Mornet
Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. Patients have consistently low serum alkaline phosphatase (AP), so that this parameter is a good hallmark of the disease. Adult HPP is heterogeneous, and some patients present only mild nonpathognomonic symptoms which are also common in the general population such as joint pain, osteomalacia and osteopenia, chondrocalcinosis, arthropathy and musculoskeletal pain...
December 13, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29225276/mitral-regurgitation-and-heart-failure-as-the-first-presentation-in-a-patient-with-features-of-two-connective-tissue-disorders-a-rare-combination-of-mucopolysaccharidosis-and-osteogenesis-imperfecta
#6
Yasuhiro Hamatani, Junko Nakashima, Keiko Ohta-Ogo, Makoto Amaki, Masashi Koga, Daisetsu Aoyama, Kyohei Marume, Kenichiro Sawada, Yasuteru Nakashima, Atsushi Shibata, Atsushi Okada, Hiroyuki Takahama, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Yoshihiko Ikeda, Satoshi Yasuda, Hatsue Ishibashi-Ueda, Toshihisa Anzai
Connective tissue disorders sometimes involve cardiovascular systems. This report describes the case of a middle-aged man with mitral regurgitation and heart failure. He had distinctive features of mucopolysaccharidosis (MPS) type III, but no gene mutations that were known to be associated with MPS. Meanwhile, he had a COL1A2 gene mutation that is associated with osteogenesis imperfecta (OI), and had some features that were compatible with OI. The patient might have had a rare connective tissue disorder with the characteristics of MPS type III and OI, which was initially detected as a result of the cardiovascular manifestations...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29176935/restoration-of-mir-29b-exerts-anti-cancer-effects-on-glioblastoma
#7
Jaekyung Shin, Hyun Geun Shim, Taeyoung Hwang, Hyungsin Kim, Shin-Hyuk Kang, Yun-Sik Dho, Sung-Hye Park, Sang Jeong Kim, Chul-Kee Park
Background: Glioblastoma multiforme (GBM) is known as one of the most fatal forms of cancer. MicroRNAs have been widely implicated in the regulation of mammalian development and pathogenesis. The brain-enriched miR-29 subfamilies are known to be exclusively expressed in the developing brain, and they are aberrantly down-regulated in GBM. This study aims to elucidate the role of miR-29b in GBM development and the feasibility of therapeutic targeting using conjugated nanoparticles. Methods: After confirmation of miR-29b expression levels in GBM tissues by analysis of open source data, the anticancer effect of miR-29b was tested by the introduction of syn-hsa-miR-29b-3p in the A172 GBM cell line...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29167509/cartilage-intermediate-layer-protein-1-cilp1-a-novel-mediator-of-cardiac-extracellular-matrix-remodelling
#8
Frans A van Nieuwenhoven, Chantal Munts, Roel C Op't Veld, Arantxa González, Javier Díez, Stephane Heymans, Blanche Schroen, Marc van Bilsen
Heart failure is accompanied by extracellular matrix (ECM) remodelling, often leading to cardiac fibrosis. In the present study we explored the significance of cartilage intermediate layer protein 1 (CILP1) as a novel mediator of cardiac ECM remodelling. Whole genome transcriptional analysis of human cardiac tissue samples revealed a strong association of CILP1 with many structural (e.g. COL1A2 r(2) = 0.83) and non-structural (e.g. TGFB3 r(2) = 0.75) ECM proteins. Gene enrichment analysis further underscored the involvement of CILP1 in human cardiac ECM remodelling and TGFβ signalling...
November 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29154388/systematic-review-of-the-effect-of-denosumab-on-children-with-osteogenesis-imperfecta-showed-inconsistent-findings
#9
Guowei Li, Yanling Jin, Mitchell A H Levine, Heike Hoyer-Kuhn, Leanne Ward, Jonathan D Adachi
No abstract text is available yet for this article.
November 20, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29152605/hepatic-natural-killer-t-cell-and-cd8-t-cell-signatures-in-mice-with-nonalcoholic-steatohepatitis
#10
Jashdeep Bhattacharjee, Michelle Kirby, Samir Softic, Lili Miles, Rosa-Maria Salazar-Gonzalez, Pranav Shivakumar, Rohit Kohli
Hepatic inflammation is a key pathological feature of Nonalcoholic Steatohepatitis (NASH). Natural Killer T-cells (NKT) and CD8+ T-cells are known to play an important role in obesity related adipose tissue inflammation. We hypothesized that these same inflammatory phenotypes would be present in progressive NASH. We used a previously established high fat high carbohydrate (HFHC) murine obesogenic diet model of progressive NASH to investigate the role of NKT cells and CD8+ T-cells in C57Bl6/J mice. Further, to better understand the impact of these cell populations; CD1d-deficient and CD8+ T-cell depleted mice were subjected to HFHC diet for 16 weeks...
June 2017: Hepatology Communications
https://www.readbyqxmd.com/read/29150909/genetic-analysis-of-osteogenesis-imperfecta-in-the-palestinian-population-molecular-screening-of-49-affected-families
#11
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
November 18, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29143985/silencing-of-col1a2-col6a3-and-thbs2-inhibits-gastric-cancer-cell-proliferation-migration-and-invasion-while-promoting-apoptosis-through-the-pi3k-akt-signaling-pathway
#12
Ran Ao, Lin Guan, Ying Wang, Jia-Ni Wang
This study explores the effect of COL1A2, COL6A3, and THBS2 gene silencing on proliferation, migration, invasion, and apoptosis of gastric cancer cells through the PI3K-Akt signaling pathway. The gastric cancer microarray expression data (GSE19826, GSE79973, and GSE65801) was analyzed. Gastric cancer tissues and corresponding adjacent normal tissues were extracted from patients. Positive expression rate of PI3K, Akt, and p-Akt was measured with immunohistochemistry. Two cell lines, BGC-823 and SGC-7901, were transfected and cells were grouped into blank, negative control, COL1A2-shRNA, COL6A3-shRNA, and THBS2-shRNA groups...
November 16, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29142074/stat3-controls-col1a2-enhancer-activation-cooperatively-with-junb-regulates-type-i-collagen-synthesis-post-transcriptionally-and-is-essential-for-lung-myofibroblast-differentiation
#13
Ioannis Papaioannou, Shiwen Xu, Christopher P Denton, David J Abraham, Markella Ponticos
Fibroblast differentiation is key cellular process that underlies the process of fibrosis, a deadly complication of fibrotic diseases like Scleroderma (SSc). This transition coincides with the overproduction of Collagen type I (COL1) and other extracellular matrix proteins. High level expression of the collagen type 1α2 subunit (COL1A2), requires the engagement of a far upstream enhancer, whose activation is strongly dependent on the AP1 factor JunB. We now report that STAT3 also binds the COL1A2 enhancer and is essential for RNA polymerase recruitment, without affecting JunB binding...
November 15, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29117538/lncrna-col1a2-as1-inhibits-the-scar-fibroblasts-proliferation-via-regulating-mir-21-smad7-pathway
#14
Qingwen Nong, Shuntang Li, Yajun Wu, Daen Liu
lncRNA COL1A2-AS1 (COL1A2 antisense RNA 1), a lncRNA overexpressed in hypertrophic scar, has been demonstrated to be involved in the hypertrophic scar formation. However, the mechanisms of lncRNA COL1A2-AS1 inhibiting the scar fibroblasts proliferation remains not well understood. In this study, we demonstrated that lncRNA COL1A2-AS1 was upregulated in hypertrophic scar tissue and fibroblasts, and suppressed fibroblasts proliferation by promoting Smad7 expression. Furthermore, we found that miR-21 was involved in lncRNA COL1A2-AS1-induced expression of Smad7, by which COL1A2-AS1 acted as endogenous sponge to adsorb miR-21 and in turn regulated Smad7 and a cascade of molecular to play a protective role in hypertrophic scar...
November 5, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29102224/an-endogenous-tryptophan-photo-product-ficz-is-potentially-involved-in-photo-aging-by-reducing-tgf-%C3%AE-regulated-collagen-homeostasis
#15
Mika Murai, Gaku Tsuji, Akiko Hashimoto-Hachiya, Yoshihito Kawakami, Masutaka Furue, Chikage Mitoma
BACKGROUND: Persistent ultraviolet (UV) radiation in the form of sunlight causes photo-aging of the skin by reducing the production of type I collagen, the major constituent of the extracellular matrix of the dermis. Transforming growth factor (TGF)-β transforms dermal fibroblasts into α2-smooth muscle actin (ACTA2)-expressing myofibroblasts. Myofibroblasts produce a precursor form of type I collagen, type I procollagen (collagen I), consisting of pro-alpha1 (produced by the COL1A1 gene) and pro-alpha2 chains (produced by the COL1A2 gene)...
October 16, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29072034/potential-effect-of-exercise-in-ameliorating-insulin-resistance-at-transcriptome-level
#16
Zhigang Hu, Lei Zhou, Tingting He
BACKGROUND: Insulin resistance can lead to the pathogenesis of type 2 diabetes and exercise can increase insulin sensitivity. And different exercises may have different influences on the mitigation of insulin resistance. It's still unclear how exercise affects inherited insulin resistance at transcriptome level. The purpose of our study was to analyze the potential effects of exercise in ameliorating insulin resistance at transcriptome level. METHODS: Herein, we analyzed two skeletal muscle transcriptome profiles, including gene profiles between inherited insulin resistant patients and matched healthy controls, and between trained and sedentary subjects (young and old subjects, respectively)...
October 24, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29065190/discovery-and-pharmacological-characterization-of-a-new-class-of-prolyl-trna-synthetase-inhibitor-for-anti-fibrosis-therapy
#17
Akira Shibata, Masako Kuno, Ryutaro Adachi, Yosuke Sato, Harumi Hattori, Atsushi Matsuda, Yuumi Okuzono, Keiko Igaki, Yusuke Tominari, Terufumi Takagi, Masato Yabuki, Masanori Okaniwa
Scleroderma has clinical characteristics including skin and other tissue fibrosis, but there is an unmet need for anti-fibrotic therapy. Halofuginone (HF) is a well-known anti-fibrosis agent in preclinical and clinical studies which exerts its effect via inhibition of TGF-β/Smad3 signaling pathway. Recently, prolyl-tRNA synthetase (PRS) was elucidated as a target protein for HF that binds to the proline binding site of the catalytic domain of PRS. Here, we characterized a new class of PRS inhibitor (T-3833261) that is carefully designed in a way that binds to the ATP site of the catalytic domain and does not disrupt binding of proline...
2017: PloS One
https://www.readbyqxmd.com/read/29036614/identification-of-a-candidate-mutation-in-the-col1a2-gene-of-a-chow-chow-with-osteogenesis-imperfecta
#18
E M Quist, R Doan, R R Pool, B F Porter, D L Bannasch, S V Dindot
Osteogenesis imperfecta (OI) is a genetic disease that occurs in humans and animals. Individuals with OI exhibit signs of extreme bone fragility and osteopenia with frequent fractures and perinatal lethality in severe cases. In this study, we report the clinical diagnosis of OI in a dog and the use targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. A five-month old male Chow Chow was examined with a fractured left humerus and resolving, bilateral femoral fractures...
September 19, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/29028628/role-of-pdgf-bb-in-proliferation-differentiation-and-maintaining-stem-cell-properties-of-pdl-cells-in-vitro
#19
Zornitsa Mihaylova, Rozaliya Tsikandelova, Pavel Sanimirov, Natalia Gateva, Vanyo Mitev, Nikolay Ishkitiev
OBJECTIVE: Platelet-derived growth factor-BB (PDGF-BB) is one of the most abundant growth factors in platelet derived products and has been shown to stimulate regeneration after tissue injury. There is a population of mesenchymal stem cells (MSC) in human periodontal ligament (PDL) which can contribute to tissue regeneration under appropriate conditions. DESIGN: PDL cells were isolated and characterized using stem cell and differentiation markers via immunofluorescence and flow cytometry and then cultured in vitro and treated with different concentrations of PDGF-BB...
September 25, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28990106/identification-of-key-genes-for-diabetic-kidney-disease-using-biological-informatics-methods
#20
Fuzhe Ma, Tao Sun, Meiyan Wu, Wanning Wang, Zhonggao Xu
Diabetic kidney disease (DKD) is a common complication of diabetes, which is characterized by albuminuria, impaired glomerular filtration rate or a combination of the two. The aim of the present study was to identify the potential key genes involved in DKD progression and to subsequently investigate the underlying mechanism involved in DKD development. The array data of GSE30528 including 9 DKD and 13 control samples was downloaded from the Gene Expression Omnibus database. The differentially expressed genes (DEGs) in DKD glomerular and tubular kidney biopsy tissues were compared with normal tissues, and were analyzed using the limma package...
December 2017: Molecular Medicine Reports
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