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https://www.readbyqxmd.com/read/28725987/gene-mutation-spectrum-and-genotype-phenotype-correlation-in-a-cohort-of-chinese-osteogenesis-imperfecta-patients-revealed-by-targeted-next-generation-sequencing
#1
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, W Yu, J Wang, J Sun, L Song, Y Zhu, H Yang, J Wang, M Li
The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which included 45 novel variants. We further did a genotype-phenotype analysis, which helps make a better understanding of OI. INTRODUCTION: This study aims to reveal the gene mutation spectrum and the genotype-phenotype relationship among Chinese OI patients by next generation sequencing (NGS)...
July 19, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28724751/tomo-seq-identifies-sox9-as-a-key-regulator-of-cardiac-fibrosis-during-ischemic-injury
#2
Grégory P A Lacraz, Jan Philipp Junker, Monika M Gladka, Bas Molenaar, Koen T Scholman, Marta Vigil-Garcia, Danielle Versteeg, Hesther de Ruiter, Marit W Vermunt, Menno P Creyghton, Manon M H Huibers, Nicolaas de Jonge, Alexander van Oudenaarden, Eva van Rooij
Background -Cardiac ischemic injury induces a pathological remodeling response, which can ultimately lead to heart failure. Detailed mechanistic insights into molecular signaling pathways relevant for different aspects of cardiac remodeling will support the identification of novel therapeutic targets. Methods -While genome-wide transcriptome analysis on diseased tissues has greatly advanced our understanding of the regulatory networks that drive pathological changes in the heart, this approach has been disadvantaged by the fact that the signals are derived from tissue homogenates...
July 19, 2017: Circulation
https://www.readbyqxmd.com/read/28716975/metabolic-phenotype-in-the-mouse-model-of-osteogenesis-imperfecta
#3
Iris Boraschi-Diaz, Josephine T Tauer, Omar El Rifai, Delphine Guillemette, Geneviève Lefebvre, Frank Rauch, Mathieu Ferron, Svetlana V Komarova
Osteogenesis Imperfecta (OI) is the most common heritable bone fragility disorder, usually caused by dominant mutations in genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Osteocalcin is now recognized as a bone-derived regulator of insulin secretion and sensitivity and glucose homeostasis. Since OI is associated with increased rates of bone formation and resorption, we hypothesized that the levels of undercarboxylated osteocalcin are increased in OI. The objective of this study was to determine changes in osteocalcin and to elucidate the metabolic phenotype in the Col1a1Jrt/+ mouse, a model of dominant OI caused by a Col1a1 mutation...
July 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28715254/effects-of-ethyl-%C3%AE-d-glucoside-on-human-dermal-fibroblasts
#4
Takayuki Bogaki, Keiichi Mitani, Yuki Oura, Kenji Ozeki
Ethyl α-d-glucoside (α-EG) is a glycoside present in sake, Japanese rice wine. Previous studies have reported that α-EG suppresses skin roughness after ultraviolet B irradiation, transepidermal water loss, and hepatic function disorder, and has a skin moisturizing effect. In this study, 0.48 μM of α-EG was found to increase the proliferation of normal human dermal fibroblasts (NHDF) by 121.0%, and the amount of collagen I produced by NHDF increased by 159.6% at an α-EG concentration of 0.048 μM, compared to those in cells cultured without α-EG...
July 17, 2017: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/28689917/dioscin-a-potent-itga5-inhibitor-reduces-the-synthesis-of-collagen-against-liver-fibrosis-insights-from-silac-based-proteomics-analysis
#5
Lina Xu, Lianhong Yin, Xufeng Tao, Yan Qi, Xu Han, Youwei Xu, Shasha Song, Lei Li, Pengyuan Sun, Jinyong Peng
Inhibiting collagen generation is one effective method to treat liver fibrosis. Dioscin showed protective effect against liver fibrosis in our previous studies, and in the present work, SILAC-based proteomics was employed to test the underlying mechanism. A total of 121 differentially expressed proteins caused by dioscin in LX-2 cells were found, and dioscin significantly decreased the expression levels of FN, FAK1, ITGA5, p-PI3K/PI3K, p-Akt/Akt, p-mTOR/mTOR, Col1a1, Col1a2, Col2a1, Col5a1, Col6a1, and increased 2ABB level in vivo and in vitro...
July 6, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28671939/collagen-type-i-alpha-2-col1a2-polymorphism-contributes-to-intracranial-aneurysm-susceptibility-a-meta-analysis
#6
Qi Gan, Qianqian Liu, Xin Hu, Chao You
BACKGROUND COL1A2, which encodes collagen type I alpha2, has long been suggested to be a potential positional and functional candidate gene for intracranial aneurysm. We performed a meta-analysis to assess the association between COL1A2 rs42524 polymorphism and the risk of intracranial aneurysm. MATERIAL AND METHODS We conducted a systematic search for relevant literature from the following databases up to 22 July 2016: PubMed, Embase, Web of Science, and China National Knowledge Infrastructure. The strength of association between gene and disease was estimated using odds ratios (ORs) with 95% confidence intervals (CIs) under 5 genetic models...
July 3, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28665926/exome-sequencing-revealed-a-novel-homozygous-splice-site-variant-in-wnt1-gene-underlying-osteogenesis-imperfecta-type-3
#7
Muhammad Umair, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Elisabeth Graf, Asmat Ullah, Farooq Ahmad, Tim M Strom, Thomas Meitinger, Wasim Ahmad
BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable bone fragility disorder usually caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, seventeen genes including twelve autosomal recessive and five autosomal dominant forms of OI, involved in various aspects of bone formation, have been identified. METHODS: Whole exome sequencing followed by conventional Sanger sequencing was performed in single affected individual IV-3 in the present family...
June 30, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28625337/osteogenesis-imperfecta-a-clinical-update
#8
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
#9
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
#10
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...
August 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
#11
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
#12
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...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548630/tenogenic-differentiation-of-human-embryonic-stem-cells
#13
Tina P Dale, Shazia Mazher, William R Webb, Jing Zhou, Nicola Maffulli, Guo-Qiang 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 signaling cascade blocking agent, dorsomorphin...
July 7, 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
#14
G Adam Whitney, Thomas J Kean, Russell J Fernandes, Stephen Waldman, M Yat Tse, Stephen C Pang, Joseph M Mansour, James E Dennis
Low collagen accumulation in the extracellular matrix is a pressing problem in cartilage tissue engineering, leading to a low collagen-to-glycosaminoglycan (GAG) ratio and poor mechanical properties in neocartilage. 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...
July 7, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28533732/e-cadherin-and-fgfr1-expression-in-mouse-osteoblastogenesis-in-normoxic-cultures
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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