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https://www.readbyqxmd.com/read/28625337/osteogenesis-imperfecta-a-clinical-update
#1
Symeon Tournis, Anastasia D Dede
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in type 1 collagen. In the last decade, defects in several other proteins involved in the normal processing of type 1 collagen have been described...
June 8, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28612031/microrna-29b-contributes-to-collagens-imbalance-in-human-osteoarthritic-and-dedifferentiated-articular-chondrocytes
#2
David Moulin, Véronique Salone, Meriem Koufany, Thomas Clément, Isabelle Behm-Ansmant, Christiane Branlant, Bruno Charpentier, Jean-Yves Jouzeau
OBJECTIVE: Decreased expression of collagen type II in favour of collagen type I or X is one hallmark of chondrocyte phenotype changes in osteoarthritic (OA) cartilage. MicroRNA- (miR-) 29b was previously shown to target collagens in several tissues. We studied whether it could contribute to collagen imbalance in chondrocytes with an impaired phenotype. METHODS: After preliminary microarrays screening, miR-29b levels were measured by RT- quantitative PCR in in vitro models of chondrocyte phenotype changes (IL-1β challenge or serial subculturing) and in chondrocytes from OA and non-OA patients...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28594651/mir-4728-3p-functions-as-a-tumor-suppressor-in-ulcerative-colitis-associated-colorectal-neoplasia-through-regulation-of-focal-adhesion-signaling
#3
Joel Pekow, Alan L Hutchison, Katherine Meckel, Kymberly Harrington, Zifeng Deng, Nitya Talasila, David T Rubin, Stephen B Hanauer, Roger Hurst, Konstantin Umanskiy, Alessandro Fichera, John Hart, Aaron R Dinner, Marc Bissonnette
BACKGROUND: As mechanisms of neoplasia in patients with ulcerative colitis (UC) remain poorly understood, we sought to identify pathways of carcinogenesis in this high-risk population. METHODS: MicroRNA (miRNA) and mRNA expression was examined in nondysplastic rectosigmoid mucosa from UC patients with (n = 19) or without remote colon neoplasia (n = 23). We developed a method to identify miRNA-regulated pathways based on differentially expressed miRNAs and their putative mRNAs targets in the same samples...
June 9, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28578703/effects-of-platelet-rich-plasma-prp-on-human-gingival-fibroblast-osteoblast-and-periodontal-ligament-cell-behaviour
#4
Eizaburo Kobayashi, Masako Fujioka-Kobayashi, Anton Sculean, Vivianne Chappuis, Daniel Buser, Benoit Schaller, Forenc Dőri, Richard J Miron
BACKGROUND: The use of platelet rich plasma (PRP, GLO) has been used as an adjunct to various regenerative dental procedures. The aim of the present study was to characterize the influence of PRP on human gingival fibroblasts, periodontal ligament (PDL) cells and osteoblast cell behavior in vitro. METHODS: Human gingival fibroblasts, PDL cells and osteoblasts were cultured with conditioned media from PRP and investigated for cell migration, proliferation and collagen1 (COL1) immunostaining...
June 2, 2017: BMC Oral Health
https://www.readbyqxmd.com/read/28562334/gene-co-expression-network-reveals-shared-modules-predictive-of-stage-and-grade-in-serous-ovarian-cancers
#5
Qian Sun, Haiyue Zhao, Cong Zhang, Ting Hu, Jianli Wu, Xingguang Lin, Danfeng Luo, Changyu Wang, Li Meng, Ling Xi, Kezhen Li, Junbo Hu, Ding Ma, Tao Zhu
Serous ovarian cancer (SOC) is the most lethal gynecological cancer. Clinical studies have revealed an association between tumor stage and grade and clinical prognosis. Identification of meaningful clusters of co-expressed genes or representative biomarkers related to stage or grade may help to reveal mechanisms of tumorigenesis and cancer development, and aid in predicting SOC patient prognosis. We therefore performed a weighted gene co-expression network analysis (WGCNA) and calculated module-trait correlations based on three public microarray datasets (GSE26193, GSE9891, and TCGA), which included 788 samples and 10402 genes...
May 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548630/tenogenic-differentiation-of-human-embryonic-stem-cells
#6
Tina P Dale, Shazia Mazher, William R Webb, Jing Zhou, Nicola Maffulli, G-Q Chen, Alicia J El Haj, Nicholas R Forsyth
Tendon healing is complex to manage because of the limited regeneration capacity of tendon tissue; stem cell-based tissue engineering approaches may provide alternative healing strategies. We sought to determine whether human embryonic stem cells (hESC) could be induced to differentiate into tendon-like cells by the addition of exogenous bone morphogenetic protein (BMP)12 (growth differentiation factor(GDF)7) and BMP13 (GDF6). hESC (SHEF-1) were maintained with or without BMP12/13 supplementation, or supplemented with BMP12/13 and the SMAD signalling cascade blocking agent, dorsomorphin...
May 26, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28548569/thyroxine-increases-collagen-type-ii-expression-and-accumulation-in-scaffold-free-tissue-engineered-articular-cartilage
#7
G Adam Whitney, Thomas J Kean, Russell J Fernandes, Stephen D Waldman, M Yat Tse, Stephen C Pang, Joseph M Mansour, James E Dennis
Low collagen accumulation in the extra-cellular matrix is a pressing problem in cartilage tissue engineering, leading to a low collagen-to-glycosaminoglycan (GAG) ratio and poor mechanical properties in neo-cartilage. Soluble factors have been shown to increase collagen content, but may result in a more pronounced increase in GAG content. Thyroid hormones have been reported to stimulate collagen and GAG production, but reported outcomes, including which specific collagen types are affected, are variable throughout the literature...
May 26, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28533732/e-cadherin-and-fgfr1-expression-in-mouse-osteoblastogenesis-in-normoxic-cultures
#8
Osama Al-Amer
E-cadherin is a cell surface adhesion molecules that play an important role in tissue differentiation. FGFR1 is expressed in the developing and mature skeleton in patterns suggestive of both unique and redundant function. Expression levels of E-cadherin and FGFR1 during osteoblastogenesis unclear. In this study primary calvarial mouse osteoblasts were differentiated to mature osteoblasts in osteogenic medium. Alkaline phosphatase (ALP) activity, alizarin red staining, gene expression (Runt-related transcription factor 2 (Runx2), collagen 1 (COL1A2), osteocalcin, E-cadherin and FGFR1) and protein expression (E-cadherin and FGFR1) of osteogenic-cultured primary mouse osteoblast were analysed in this study...
March 2017: International Journal of Biomedical Science: IJBS
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#9
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28498836/mutations-in-col1a1-and-col1a2-and-dental-aberrations-in-children-and-adolescents-with-osteogenesis-imperfecta-a-retrospective-cohort-study
#10
Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation...
2017: PloS One
https://www.readbyqxmd.com/read/28494009/postnatal-changes-and-sexual-dimorphism-in-collagen-expression-in-mouse-skin
#11
Koji Y Arai, Takuya Hara, Toyofumi Nagatsuka, Chikako Kudo, Sho Tsuchiya, Yoshihiro Nomura, Toshio Nishiyama
To investigate sexual dimorphism and postnatal changes in skin collagen expression, mRNA levels of collagens and their regulatory factors in male and female skin were examined during the first 120 days of age by quantitative realtime PCR. Levels of mRNAs encoding extracellular matrices did not show any differences between male and female mice until day 15. Col1a1 and Col1a2 mRNAs noticeably increased at day 30 and remained at high levels until day 120 in male mice, while those in female mice remained at low levels during the period...
2017: PloS One
https://www.readbyqxmd.com/read/28461254/combination-sclerostin-antibody-and-zoledronic-acid-treatment-outperforms-either-treatment-alone-in-a-mouse-model-of-osteogenesis-imperfecta
#12
David G Little, Lauren Peacock, Kathy Mikulec, Michaela Kneissel, Ina Kramer, Tegan L Cheng, Aaron Schindeler, Craig Munns
In this study, we examined the therapeutic potential of anti-Sclerostin Antibody (Scl-Ab) and bisphosphonate treatments for the bone fragility disorder Osteogenesis Imperfecta (OI). Mice with the Amish OI mutation (Col1a2 G610C mice) and control wild type littermates (WT) were treated from week 5 to week 9 of life with (1) saline (control), (2) zoledronic acid given 0.025mg/kg s.c. weekly (ZA), (3) Scl-Ab given 50mg/kg IV weekly (Scl-Ab), or (4) a combination of both (Scl-Ab/ZA). Functional outcomes were prioritized and included bone mineral density (BMD), bone microarchitecture, long bone bending strength, and vertebral compression strength...
April 29, 2017: Bone
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#13
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#14
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
#15
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
#16
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
#17
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
#18
Anne E 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. A 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, SIRT3, and SIRT6, 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...
June 1, 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
#19
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
#20
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
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