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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28409151/temporal-changes-in-gene-expression-profile-during-mature-adipocyte-dedifferentiation
#2
Julie Anne Côté, Frédéric Guénard, Julie Lessard, Marc Lapointe, Simon Biron, Marie-Claude Vohl, André Tchernof
Objective. To characterize changes in gene expression profile during human mature adipocyte dedifferentiation in ceiling culture. Methods. Subcutaneous (SC) and omental (OM) adipose tissue samples were obtained from 4 participants paired for age and BMI. Isolated adipocytes were dedifferentiated in ceiling culture. Gene expression analysis at days 0, 4, 7, and 12 of the cultures was performed using Affymetrix Human Gene 2.0 STvi arrays. Hierarchical clustering according to similarity of expression changes was used to identify overrepresented functions...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28401929/the-effect-of-l-prf-membranes-on-bone-healing-in-rabbit-tibiae-bone-defects-micro-ct-and-biomarker-results
#3
Fernanda Faot, Sanne Deprez, Katleen Vandamme, Germana V Camargos, Nelson Pinto, Jasper Wouters, Joost van den Oord, Marc Quirynen, Joke Duyck
More insight into the biological fundamentals of leukocyte platelet-rich fibrin (L-PRF) guided healing is necessary to recommend its application, in particular in deficient bone sites that need to support implants. This study investigated the short-term bone healing effect of L-PRF treatment in cylindrical non-critical sized bone defects with 3 mm diameter and 6 mm depth in tibiae of 18 adult male New Zealand White rabbits. After a randomization process, 96 bone defects were prepared and half of them were filled with a L-PRF membrane, while untreated defects in the opposite tibia served as control group...
April 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28401451/col1a2-is-a-novel-biomarker-to-improve-clinical-prediction-in-human-gastric-cancer-integrating-bioinformatics-and-meta-analysis
#4
Li Rong, Wei Huang, Shangkun Tian, Xiangbo Chi, Pan Zhao, Fengfeng Liu
Gastric cancer is the third most common cause of cancer-related death in worldwide. It is crucial to target the key genes controlling pathogenesis in the early stage of gastric cancer. This study describes an integrated bioinformatics to identify molecular biomarkers for gastric cancer in patients' cancer tissues. We reports differently expression genes in large gastric cancer cohorts from Gene Expression Ominus (GEO). Our findings revealed that 433 genes were significantly different expressed in human gastric cancer...
April 11, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28385812/sirtuin-7-is-decreased-in-pulmonary-fibrosis-and-regulates-the-fibrotic-phenotype-of-lung-fibroblasts
#5
Anne Elizabeth Wyman, Zahid Noor, Rita Fishelevich, Virginia Lockatell, Nirav G Shah, Nevins W Todd, Sergei P Atamas
Pulmonary fibrosis is a severe condition with no cure and limited therapeutic options. Better understanding of its pathophysiology is needed. Recent studies have suggested that pulmonary fibrosis may be driven by accelerated aging-related mechanisms. Sirtuins (SIRTs), particularly SIRT1, -3, and -6, are well-known mediators of aging, however limited data exist on the contribution of sirtuins to lung fibrosis. We assessed the mRNA and protein levels of all seven known sirtuins in primary lung fibroblasts from patients with idiopathic pulmonary fibrosis (IPF) and systemic sclerosis-associated interstitial lung disease (SSc-ILD) in comparison with lung fibroblasts from healthy controls...
April 6, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28378289/molecular-diagnosis-in-children-with-fractures-but-no-extraskeletal-signs-of-osteogenesis-imperfecta
#6
G Bardai, L M Ward, P Trejo, P Moffatt, F H Glorieux, F Rauch
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. INTRODUCTION: In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI...
April 4, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28326186/a-novel-col1a1-mutation-in-a-family-with-osteogenesis-imperfecta-associated-with-phenotypic-variabilities
#7
Toshiyuki Seto, Toshiyuki Yamamoto, Keiko Shimojima, Haruo Shintaku
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this family showed various complications, such as heart valve diseases and severe scoliosis. The clinical heterogeneity in the family is discussed in this study.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28324211/comparison-of-in-vitro-osteogenic-potential-of-iliac-crest-and-degenerative-facet-joint-bone-autografts-for-intervertebral-fusion-in-lumbar-spinal-stenosis
#8
Jeroen Geurts, Daniela Ramp, Stefan Schären, Cordula Netzer
PURPOSE: The promotion of spinal fusion using bone autografts is largely mediated by the osteoinductive potential of progenitors/mesenchymal stem cells (MSC) that reside in the marrow spaces of cancellous bone. Iliac crest is the common autograft donor site, but its use presents an increased risk for donor site pain, morbidity and infection. Degenerative bone samples harvested during facetectomy might provide an alternative viable source of osteoinductive autografts. In this study, we conducted an intra-individual comparison of the osteogenic potential of isolated low passage MSC from both sources...
March 21, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28323983/autophagic-degradation-of-collagen-1a1-by-cortisol-in-human-amnion-fibroblasts
#9
Yabing Mi, Wangsheng Wang, Chuyue Zhang, Chao Liu, Jiangwen Lu, Wenjiao Li, Rujuan Zuo, Leslie Myatt, Kang Sun
Rupture of fetal membranes can initiate parturition at both term and preterm. Collagen is the crucial factor determining the tensile strength of the membranes. Toward the end of gestation, a feed-forward regeneration of cortisol via 11β-hydroxysteroid dehydrogenase 1 exists in fetal membranes. It remains undetermined whether cortisol contributes to collagen reduction in fetal membranes. In this study, we have examined whether cortisol accumulation is a causative factor for collagen reduction in human amnion fibroblasts, the major source of collagens in the membranes...
April 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28288857/a-reductionist-approach-to-extract-robust-molecular-markers-from-microarray-data-series-isolating-markers-to-track-osseointegration
#10
Anwesha Barik, Satarupa Banerjee, Santanu Dhara, Nishant Chakravorty
Complexities in the full genome expression studies hinder the extraction of tracker genes to analyze the course of biological events. In this study, we demonstrate the applications of supervised machine learning methods to reduce the irrelevance in microarray data series and thereby extract robust molecular markers to track biological processes. The methodology has been illustrated by analyzing whole genome expression studies on bone-implant integration (ossointegration). Being a biological process, osseointegration is known to leave a trail of genetic footprint during the course...
March 10, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28281307/integrated-expression-analysis-identifies-transcription-networks-in-mouse-and-human-gastric-neoplasia
#11
Zheng Chen, Mohammed Soutto, Bushra Rahman, Muhammad W Fazili, DunFa Peng, Maria Blanca Piazuelo, Heidi Chen, M Kay Washington, Yu Shyr, Wael El-Rifai
Gastric cancer (GC) is a leading cause of cancer-related deaths worldwide. The Tff1 knockout (KO) mouse model develops gastric lesions that include low-grade dysplasia (LGD), high-grade dysplasia (HGD), and adenocarcinomas. In this study, we used Affymetrix microarrays gene expression platforms for analysis of molecular signatures in the mouse stomach [Tff1-KO (LGD) and Tff1 wild-type (normal)] and human gastric cancer tissues and their adjacent normal tissue samples. Combined integrated bioinformatics analysis of mouse and human datasets indicated that 172 genes were consistently deregulated in both human gastric cancer samples and Tff1-KO LGD lesions (P < ...
March 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28266660/high-glucose-alters-tendon-homeostasis-through-downregulation-of-the-ampk-egr1-pathway
#12
Yu-Fu Wu, Hsing-Kuo Wang, Hong-Wei Chang, Jingyu Sun, Jui-Sheng Sun, Yuan-Hung Chao
Diabetes mellitus (DM) is associated with higher risk of tendinopathy, which reduces tolerance to exercise and functional activities and affects lifestyle and glycemic control. Expression of tendon-related genes and matrix metabolism in tenocytes are essential for maintaining physiological functions of tendon. However, the molecular mechanisms involved in diabetic tendinopathy remain unclear. We hypothesized that high glucose (HG) alters the characteristics of tenocyte. Using in vitro 2-week culture of tenocytes, we found that expression of tendon-related genes, including Egr1, Mkx, TGF-β1, Col1a2, and Bgn, was significantly decreased in HG culture and that higher glucose consumption occurred...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28263294/increased-expression-of-latent-tgf-%C3%AE-binding-protein-4-affects-the-fibrotic-process-in-scleroderma-by-tgf-%C3%AE-smad-signaling
#13
Jiaying Lu, Qingmei Liu, Lei Wang, Wenzhen Tu, Haiyan Chu, Weifeng Ding, Shuai Jiang, Yanyun Ma, Xiangguang Shi, Weilin Pu, Xiaodong Zhou, Li Jin, Jiucun Wang, Wenyu Wu
Scleroderma is a fibrosis-related disorder characterized by cutaneous and internal organ fibrosis, and excessive collagen deposition in extracellular matrix (ECM) is a major cause of fibrosis. Transforming growth factor-β (TGF-β)/SMAD signaling has a central role in the pathogenesis of fibrosis by inducing abnormal collagen accumulation in ECM, and latent TGF-β-binding protein 4 (LTBP-4) affects the secretion of latent TGF-β to ECM. A previous study indicated that bleomycin (BLM) treatment increased LTBP-4 expression in lung fibroblasts of Thy-1 knockout mice with lung fibrosis, and LTBP-4 further promoted TGF-β bioavailability as well as SMAD3 phosphorylation...
March 6, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28261977/tissue-specific-mosaicism-for-a-lethal-osteogenesis-imperfecta-col1a1-mutation-causes-mild-oi-eds-overlap-syndrome
#14
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, Anne De Paepe, Karin E M Diderich, Fransiska Malfait, Paul J Coucke
Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Biochemical collagen analysis of the patients' dermal fibroblasts showed faint overmodification of the type I collagen bands, a finding specific for structural defects in type I collagen...
March 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28237615/inhibition-of-dna-methylation-in-the-col1a2-promoter-by-anacardic-acid-prevents-uv-induced-decrease-of-type-i-procollagen-expression
#15
Min-Kyoung Kim, Eun Ju Kim, Yao Cheng, Mi Hee Shin, Jang-Hee Oh, Dong Hun Lee, Jin Ho Chung
Ultraviolet (UV) radiation decreases type I procollagen production mainly by inhibiting the TGF-β/Smad signaling pathway. Because further epigenetic regulatory mechanisms are unclear, we investigated the roles of DNA methylation and histone acetylation in UV-induced regulation of collagen type I alpha 2 (COL1A2) transcription in human dermal fibroblasts(HDFs). Anacardic acid (AA), a p300 histone acetyltransferase inhibitor, rescued the UV-induced decrease of type I procollagen expression in HDFs. Although UV irradiation induced global histone acetylation, it reduced the local recruitment of histone H3 acetylation as well as p300, and Smad2/3 to the p300 binding site (-1406/-1393) in the COL1A2 promoter as shown by chromatin immunoprecipitation...
February 22, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#16
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28211947/insulin-like-growth-factor-1-promotes-osteogenic-differentiation-and-collagen-i-alpha-2-synthesis-via-induction-of-mrna-binding-protein-larp6-expression
#17
Yue Guo, Chen-Yi Tang, Xiao-Fei Man, Hao-Neng Tang, Jun Tang, Ci-La Zhou, Shu-Wen Tan, Min Wang, Yun-Zhi Feng, Hou-De Zhou
This study explored the mechanism underlying the stimulation of collagen synthesis and osteoblastic differentiation by insulin-like growth factor 1 (IGF1) in primary mouse osteoblasts. Primary mouse calvarial osteoblasts were cultured and treated with various doses of IGF1 before transfection with siRNA targeting the collagen type I alpha 2 (Col1a2) or La ribonucleoprotein domain family member 6 (Larp6) genes. Alkaline phosphatase (ALP) activity, osteocalcin staining, alizarin red quantification and the expression level of runt-related transcription factor 2 (RUNX2) were performed to assess the differentiation of pre-osteoblasts...
February 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28179498/loss-of-twist1-in-the-mesenchymal-compartment-promotes-increased-fibrosis-in-experimental-lung-injury-by-enhanced-expression-of-cxcl12
#18
Jiangning Tan, John R Tedrow, Mehdi Nouraie, Justin A Dutta, David T Miller, Xiaoyun Li, Shibing Yu, Yanxia Chu, Brenda Juan-Guardela, Naftali Kaminski, Kritika Ramani, Partha S Biswas, Yingze Zhang, Daniel J Kass
Idiopathic pulmonary fibrosis (IPF) is a disease characterized by the accumulation of apoptosis-resistant fibroblasts in the lung. We have previously shown that high expression of the transcription factor Twist1 may explain this prosurvival phenotype in vitro. However, this observation has never been tested in vivo. We found that loss of Twist1 in COL1A2(+) cells led to increased fibrosis characterized by very significant accumulation of T cells and bone marrow-derived matrix-producing cells. We found that Twist1-null cells expressed high levels of the T cell chemoattractant CXCL12...
March 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28126709/enhanced-store-operated-ca-2-influx-and-orai1-expression-in-ventricular-fibroblasts-from-human-failing-heart
#19
Gracious R Ross, Tanvir Bajwa, Stacie Edwards, Larisa Emelyanova, Farhan Rizvi, Ekhson L Holmuhamedov, Paul Werner, Francis X Downey, A Jamil Tajik, Arshad Jahangir
Excessive cardiac fibrosis, characterized by increased collagen-rich extracellular matrix (ECM) deposition, is a major predisposing factor for mechanical and electrical dysfunction in heart failure (HF). The human ventricular fibroblast (hVF) remodeling mechanisms that cause excessive collagen deposition in HF are unclear, although reports suggest a role for intracellular free Ca(2+) in fibrosis. Therefore, we determined the association of differences in cellular Ca(2+) dynamics and collagen secretion/deposition between hVFs from failing and normal (control) hearts...
March 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#20
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
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