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https://www.readbyqxmd.com/read/28938149/the-genetic-influence-in-fluorosis
#1
REVIEW
Sreemanta Pramanik, Depanwita Saha
Fluorosis, caused by ingestion of excess fluoride, is endemic in at least 25 countries across the globe, China and India being the worst affected among them. Dental, skeletal and non-skeletal are the major types of fluorosis affecting millions of people in these countries. A number of genetic epidemiological studies carried out by investigators have shown the evidence for association between genetic polymorphisms in candidate genes and differences in the susceptibility pattern of different types of fluorosis among individuals living in the same community and having the same environmental exposure...
September 15, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/28935572/macrophage-infiltration-is-a-causative-factor-for-ligamentum-flavum-hypertrophy-through-the-activation-of-collagen-production-in-fibroblasts
#2
Takeyuki Saito, Masamitsu Hara, Hiromi Kumamaru, Kazu Kobayakawa, Kazuya Yokota, Ken Kijima, Shingo Yoshizaki, Katsumi Harimaya, Yoshihiro Matsumoto, Kenichi Kawaguchi, Mitsumasa Hayashida, Yutaka Inagaki, Keiichiro Shiba, Yasuharu Nakashima, Seiji Okada
Ligamentum flavum (LF) hypertrophy causes lumbar spinal canal stenosis, leading to leg pain and disability in activities of daily living in elderly individuals. Although there have been previous studies on LF hypertrophy, its pathomechanisms have not been fully elucidated. In this study, we demonstrated that infiltrating macrophages were a causative factor for LF hypertrophy. Induction of macrophages into the mouse LF by applying a micro-injury resulted in LF hypertrophy along with collagen accumulation and fibroblasts proliferation at the injured site, which were very similar to the characteristics observed in the severely hypertrophied LF of human...
September 18, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28930368/the-importance-of-polymorphic-variants-of-collagen-1a2-gene-col1a2-in-the-development-of-osteopenia-and-osteoporosis-in-postmenopausal-women
#3
Marian Majchrzycki, Joanna Bartkowiak-Wieczorek, Anna Bogacz, Joanna Szyfter-Harris, Hubert Wolski, Andrzej Klejewski, Maciej Goch, Krzysztof Drews, Magdalena Barlik, Marcin Ożarowski, Adam Kamiński, Agnieszka Gryszczyńska, Agnieszka Seremak-Mrozikiewicz
OBJECTIVES: Collagen type I plays an important role in the bone matrix and is encoded by COL1A2 (collagen type I alpha 2) gene that may be a potential candidate for osteoporotic fracture. The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in post-menopausal Polish women. Moreover, analysis of relationship between frequency of COL1A2 gene polymorphic variants and clinical parameters of bone turnover and degree of osteoporosis was performed...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28919801/transforming-growth-factor-%C3%AE-1-smad3-independent-epithelial-mesenchymal-transition-in-type-i-collagen-glomerulopathy
#4
Amanda C Brodeur, Anna M Roberts-Pilgrim, Kimberlee L Thompson, Craig L Franklin, Charlotte L Phillips
The glomerulofibrotic Col1a2-deficient mouse model demonstrates glomerular homotrimeric type I collagen deposition in mesangial and subendothelial spaces. In this report, we investigate the role of transforming growth factor β1 (TGF-β1) in myofibroblast activation and epithelial-mesenchymal transition (EMT) in this glomerulopathy. Immunohistochemical analyses of glomerular α-sma, desmin, vimentin, and proliferating cell nuclear antigen demonstrated parietal epithelial cell proliferation and EMT in late stages of the glomerulopathy in the Col1a2-deficient mice...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28916840/a-novel-col1a2-c-propeptide-cleavage-site-mutation-causing-high-bone-mass-osteogenesis-imperfecta-with-a-regional-distribution-pattern
#5
T Rolvien, U Kornak, J Stürznickel, T Schinke, M Amling, S Mundlos, R Oheim
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3...
September 15, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28904723/osteogenesis-imperfecta-type-iv-a-newly-identified-variant-at-position-c-560-g-t-p-gly187val-in-the-col1a2-gene
#6
Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan
Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28901398/application-of-next%C3%A2-generation-sequencing-for-molecular-diagnosis-in-a-large-family-with-osteogenesis-imperfecta-type-i
#7
Mengxia Ni, Hao Ding, Shuaimei Liu, Peiran Zhu, Qiuyue Wu, Weiwei Li, Jing Zhang, Weijun Jiang, Xinyi Xia
Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28894971/identification-of-genes-associated-with-primary-open-angle-glaucoma-by-bioinformatics-approach
#8
Haiyan Qiu, Benhu Zhu, Shengrong Ni
PURPOSE: This study aimed to identify associated genes with primary open-angle glaucoma (POAG) and explore the potentially modular mechanism underlying POAG. METHODS: We downloaded gene expression profiles data GSE27276 from gene expression omnibus and identified differentially expressed genes between POAG patients and normal controls. Then, gene ontology analysis and kyoto encyclopedia of genes and genomes pathway enrichment were performed to predict the DEGs functions, followed with the construction, centrality analysis, and module mining of protein-protein interaction network...
September 11, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28863000/osteogenesis-imperfecta-diagnosis-and-treatment
#9
Telma Palomo, Tatiane Vilaça, Marise Lazaretti-Castro
PURPOSE OF REVIEW: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. RECENT FINDINGS: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission...
August 31, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28859141/asporin-deficient-mice-have-tougher-skin-and-altered-skin-glycosaminoglycan-content-and-structure
#10
Marco Maccarana, René B Svensson, Anki Knutsson, Antonis Giannopoulos, Mea Pelkonen, MaryAnn Weis, David Eyre, Matthew Warman, Sebastian Kalamajski
The main structural component of connective tissues is fibrillar, cross-linked collagen whose fibrillogenesis can be modulated by Small Leucine-Rich Proteins/Proteoglycans (SLRPs). Not all SLRPs' effects on collagen and extracellular matrix in vivo have been elucidated; one of the less investigated SLRPs is asporin. Here we describe the successful generation of an Aspn-/- mouse model and the investigation of the Aspn-/- skin phenotype. Functionally, Aspn-/- mice had an increased skin mechanical toughness, although there were no structural changes present on histology or immunohistochemistry...
2017: PloS One
https://www.readbyqxmd.com/read/28858097/how-frequent-is-osteogenesis-imperfecta-in-patients-with-idiopathic-osteoporosis-case-reports
#11
Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. PATIENTS CONCERNS: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28836200/characterization-of-mesenchymal-fibroblast-cells-using-the-col1a2-promoter-enhancer
#12
Ian M H Li, Amy L Horwell, Grace Chu, Benoit de Crombrugghe, George Bou-Gharios
Excessive deposition of extracellular matrix (ECM) is a common hallmark of fibrotic diseases in various organs. Chiefly among this ECM are collagen types I and III, secreted by local fibroblasts, and other mesenchymal cells recruited for repair purposes. In the last two decades, the search for a fibroblast-specific promoter/enhancer has intensified in order to control the regulation of ECM in these cells and limit the scarring of the fibrotic process. In our previous work, we characterized an enhancer region 17 kb upstream of the Col1a2 gene transcription start site...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#13
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28818856/deletion-of-nf-%C3%AE%C2%BAb-rela-in-angiotensin-ii-sensitive-mesenchymal-cells-blocks-aortic-vascular-inflammation-and-abdominal-aortic-aneurysm-formation
#14
Talha Ijaz, Hong Sun, Irina V Pinchuk, Dianna M Milewicz, Ronald G Tilton, Allan R Brasier
OBJECTIVE: Infusion of angiotensin II (Ang II) induces extracellular matrix remodeling and inflammation resulting in abdominal aortic aneurysms (AAAs) in normolipidemic mice. Although Ang II activates mesenchymal cells in the media and adventitia to become fibrogenic, the sentinel role of this mesenchymal population in modulating the inflammatory response and aneurysms is not known. We test the hypothesis that these fibrogenic mesenchymal cells play a critical role in Ang II-induced aortic wall vascular inflammation and AAA formation...
August 17, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#15
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28815679/-epigallocatechin-3-gallate-and-atorvastatin-treatment-down-regulates-liver-fibrosis-related-genes-in-non-alcoholic-fatty-liver-disease
#16
Le Ying, Feng Yan, Yueling Zhao, Hugh Gao, Bryan Rg Williams, Yiqun Hu, Xiaofang Li, Run Tian, Ping Xu, Yuefei Wang
Non-alcoholic fatty liver disease (NAFLD) and associated advanced liver diseases have become prevalent conditions in many countries and are associated with increased mortality. Gene expression profiles in NAFLD have been examined recently but changes in expression elicited by chemical compound treatments have not been investigated. Since (-)-Epigallocatechin-3-gallate (EGCG) and atorvastatin (ATST) exhibit similar efficacy in NAFLD models, we reasoned that some common key genes might alter after treatment of EGCG and ATST...
August 16, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28814946/protein-signatures-of-molecular-pathways-in-non-small-cell-lung-carcinoma-nsclc-comparison-of-glycoproteomics-and-global-proteomics
#17
Shuang Yang, Lijun Chen, Daniel W Chan, Qing Kay Li, Hui Zhang
BACKGROUND: Non-small cell lung carcinoma (NSCLC) remains the leading cause of cancer deaths in the United States. More than half of NSCLC patients have clinical presentations with locally advanced or metastatic disease at the time of diagnosis. The large-scale genomic analysis of NSCLC has demonstrated that molecular alterations are substantially different between adenocarcinoma (ADC) and squamous cell carcinoma (SqCC). However, a comprehensive analysis of proteins and glycoproteins in different subtypes of NSCLC using advanced proteomic approaches has not yet been conducted...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#18
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810924/mutational-analysis-of-col1a1-and-col1a2-genes-among-estonian-osteogenesis-imperfecta-patients
#19
Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country. METHODS: We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations...
August 15, 2017: Human Genomics
https://www.readbyqxmd.com/read/28796071/overexpression-of-microrna-let-7-correlates-with-disease-progression-and-poor-prognosis-in-hepatocellular-carcinoma
#20
Wenxia Shi, Zili Zhang, Bin Yang, Hua Guo, Li Jing, Tong Liu, Ying Luo, Hui Liu, Yayue Li, Yingtang Gao
The aim of the study was to explore the clinical significance of let-7 expression in hepatocellular carcinoma (HCC).A PCR array was conducted to screen for let-7 expression in early-stage HCC. Next, the deregulation of let-7 was confirmed by quantitative real-time RT-PCR (qRT-PCR) in another set of liver tissues, including normal control (NC), chronic hepatitis (CH), liver cirrhosis (LC), HCC, and adjacent nontumor (NT) tissues. In addition, as the potential target mRNA of let-7, alpha 2(I) collagen (COL1A2) mRNA was also quantified in the above liver tissues...
August 2017: Medicine (Baltimore)
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