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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
#1
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
#2
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 17, 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
#3
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...
February 8, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28126709/enhanced-store-operated-ca2-influx-and-orai1-expression-in-ventricular-fibroblasts-from-human-failing-heart
#4
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 [Ca(2+)]i 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...
January 26, 2017: Biology Open
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#5
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
https://www.readbyqxmd.com/read/28112175/luteolin-7-diglucuronide-attenuates-isoproterenol-induced-myocardial-injury-and-fibrosis-in-mice
#6
Bing-Bing Ning, Yong Zhang, Dan-Dan Wu, Jin-Gang Cui, Li Liu, Pei-Wei Wang, Wen-Jian Wang, Wei-Liang Zhu, Yu Chen, Teng Zhang
Myocardial injury and ensuing fibrotic alterations impair normal heart architecture and cause cardiac dysfunction. Oxidative stress has been recognized as a key player in the pathogenesis of cardiac injury and progression of cardiac dysfunction, and promoting fibrosis. In the current study we investigated whether luteolin-7-diglucuronide (L7DG), a naturally occurring antioxidant found in edible plants, could attenuate isoproterenol (ISO)-induced myocardial injury and fibrosis in mice and the underlying mechanisms...
January 23, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28097053/in-vitro-effect-of-direct-current-electrical-stimulation-on-rat-mesenchymal-stem-cells
#7
Sahba Mobini, Liudmila Leppik, Vishnu Thottakkattumana Parameswaran, John Howard Barker
BACKGROUND: Electrical stimulation (ES) has been successfully used to treat bone defects clinically. Recently, both cellular and molecular approaches have demonstrated that ES can change cell behavior such as migration, proliferation and differentiation. METHODS: In the present study we exposed rat bone marrow- (BM-) and adipose tissue- (AT-) derived mesenchymal stem cells (MSCs) to direct current electrical stimulation (DC ES) and assessed temporal changes in osteogenic differentiation...
2017: PeerJ
https://www.readbyqxmd.com/read/28086769/effect-of-ginseng-extract-on-the-tgf-%C3%AE-1-signaling-pathway-in-ccl4-induced-liver-fibrosis-in-rats
#8
Mohamed M Hafez, Sherifa S Hamed, Manal F El-Khadragy, Zeinab K Hassan, Salim S Al Rejaie, Mohamed M Sayed-Ahmed, Naif O Al-Harbi, Khalid A Al-Hosaini, Mohamed M Al-Harbi, Ali R Alhoshani, Othman A Al-Shabanah, Shakir Dekhal Alsharari
BACKGROUND: Liver diseases are major global health problems. Ginseng extract has antioxidant, immune-modulatory and anti-inflammatory activities. This study investigated the effect of ginseng extract on carbon tetrachloride (CCl4)-induced liver fibrosis in rats. METHODS: Male Wistar rats were divided into four groups: control group, ginseng group, CCl4 group and CCl4 + ginseng group. Liver injury was induced by the intraperitoneal (I.P) injection of 3 ml/kg CCl4 (30% in olive oil) weekly for 8 weeks...
January 13, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28079129/circrna_000203-enhances-the-expression-of-fibrosis-associated-genes-by-derepressing-targets-of-mir-26b-5p-col1a2-and-ctgf-in-cardiac-fibroblasts
#9
Chun-Mei Tang, Ming Zhang, Lei Huang, Zhi-Qin Hu, Jie-Ning Zhu, Zhen Xiao, Zhuo Zhang, Qiu-Xiong Lin, Xi-Long Zheng, Min -Yang, Shu-Lin Wu, Jian-Ding Cheng, Zhi-Xin Shan
Circular RNAs (circRNAs) participate in regulating gene expression in diverse biological and pathological processes. The present study aimed to investigate the mechanism underlying the modulation of circRNA_000203 on expressions of fibrosis-associated genes in cardiac fibroblasts. CircRNA_000203 was shown upregulated in the diabetic mouse myocardium and in Ang-II-induced mouse cardiac fibroblasts. Enforced-expression of circRNA_000203 could increase expressions of Col1a2, Col3a1 and α-SMA in mouse cardiac fibroblasts...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28075443/microrna-expression-signature-and-the-therapeutic-effect-of-the-microrna%C3%A2-21-antagomir-in-hypertrophic-scarring
#10
Liang Guo, Kai Xu, Hongbo Yan, Haifeng Feng, Tao Wang, Linlin Chai, Guozheng Xu
Hypertrophic scars (HS) area fibroproliferative disorder of the skin, which causes aesthetic and functional impairment. However, the molecular pathogenesis of this disease remains largely unknown and currently no efficient treatment exists. MicroRNAs (miRNAs) are involved in a variety of pathophysiological processes, however the role of miRNAs in HS development remains unclear. To investigate the miRNA expression signature of HS, microarray analysis was performed and 152 miRNAs were observed to be differentially expressed in HS tissue compared with normal skin tissues...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28059478/amplified-7q21-22-gene-mcm7-and-its-intronic-mir-25-suppress-col1a2-associated-genes-to-sustain-intestinal-gastric-cancer-features
#11
Tamilzhalagan Sembulingam, Dhanasekaran Rathinam, Kumaresan Ganesan
Frequent amplification of 7q21-22 genomic region is known in gastric cancer. Multiple genes including SHFM1, MCM7, and COL1A2 were reported to be the potential cancer candidate genes of this 20 Mb amplicon. This amplicon has two polycistrionic miRNA clusters and in the present study, miR-106b-25 cluster located in intron-13 of MCM7 was identified to express in gastric tumors. Among the 7q21-22 candidate genes, SHFM1 and MCM7 are expressed in intestinal type gastric tumors, whereas COL1A2 is expressed in diffuse type gastric tumors...
January 6, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28057405/genetic-variants-associated-with-skin-aging-in-the-chinese-han-population
#12
Wenshan Gao, Jingze Tan, Anke Hüls, Anan Ding, Yu Liu, Mary S Matsui, Andrea Vierkötter, Jean Krutmann, Tamara Schikowski, Li Jin, Sijia Wang
BACKGROUND: The progression and manifestation of human skin aging has a strong genetic basis; however, most of the supporting evidence has been gathered in Caucasian populations. The genetic contribution to the variation in skin aging in non-Caucasian populations is poorly understood. OBJECTIVE: To investigate the genetic risk factors of relevance for skin aging in East Asians, we conducted the first candidate gene study for signs of skin aging in Han Chinese. METHODS: We collected skin aging and genotype data in 502 female Han Chinese from the Taizhou cohort...
December 22, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28035422/-corrigendum-clinical-characteristics-and-the-identification-of-novel-mutations-of-col1a1-and-col1a2-in-61%C3%A2-chinese-patients-with-osteogenesis-imperfecta
#13
Hao Zhang, Hua Yue, Chun Wang, Weiwei Hu, Jiemei Gu, Jinwei He, Wenzhen Fu, Yunqiu Hu, Miao Li, Zhenlin Zhang
Following the publication of this article, an interested reader drew to our attention that, in Table IV, we describe a c.1081C>T, p.Arg361X mutation in collagen type I, alpha 2 (COL1A2). Codon 361 is a glycine residue, not an arginine, according to the transcript, Z74616.1. We re‑examined the original data, and identified that the mutation c.1081C>T, p.Arg361X was of the collagen type I, alpha 1 COL1A1 gene, and furthermore, it was not novel in the mutation spectrum of COL1A1. Therefore, in the paper, the c...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28017821/identification-of-a-p-arg708gln-variant-in-col1a2-in-atypical-femoral-fractures
#14
Thomas Funck-Brentano, Agnes Ostertag, Francoise Debiais, Patrice Fardellone, Corinne Collet, Etienne Mornet, Martine Cohen-Solal
OBJECTIVES: Long-term bisphosphonates exposure is a proven risk factor for atypical femoral fractures (AFF) but several cases occur in untreated patients. The identification of other risk factors for AFF is critical for the management of osteoporosis. We here assessed the genetic factors associated with AFF regardless of the treatment. METHODS: Cases were identified through ICD-10 codes in 3 academic centers. Medical records were analyzed by 2 investigators that adjudicated X-rays for typical or atypical fractures...
December 23, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28017695/mir-29c-is-implicated-in-the-cardioprotective-activity-of-panax-notoginseng-saponins-against-isoproterenol-induced-myocardial-fibrogenesis
#15
Li Liu, Bingbing Ning, Jingang Cui, Teng Zhang, Yu Chen
ETHNOPHARMACOLOGICAL RELEVANCE: Panax notoginseng (Burkill) F.H. Chen (Araliaceae) has a long history of clinical application in China for the treatment of cardiovascular diseases. Panax notoginseng saponins (PNS) have been proven to be the major cardioprotective substances of Panax notoginseng (Burkill) F.H. Chen (Araliaceae). AIM OF THE STUDY: The current study further investigated the molecular mechanisms associated with the cardioprotective effect of PNS. MATERIALS AND METHODS: C57BL/6J mice were subject to isoproterenol (ISO)-induced myocardial injury in the absence or presence of PNS treatment...
December 22, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28009707/the-spine-in-patients-with-osteogenesis-imperfecta
#16
Maegen J Wallace, Richard W Kruse, Suken A Shah
Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology. The incidence of lumbosacral spondylolysis and spondylolisthesis is higher in patients with osteogenesis imperfecta than in the general population...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/27997896/elevated-thbs2-col1a2-and-spp1-expression-levels-as-predictors-of-gastric-cancer-prognosis
#17
Chuanjun Zhuo, Xubin Li, Hongqing Zhuang, Shunli Tian, Hailong Cui, Ronghuan Jiang, Chuanxin Liu, Ran Tao, Xiaodong Lin
BACKGROUND/AIMS: Gastric cancer (GC) is an important health problem. Classification based on molecular subtypes may help to determine the prognosis of patients with GC. Tumor invasion and metastasis are important factors affecting the prognosis of cancer. We aimed to identify genes related to tumor invasion and metastasis, which may serve as indicators of good GC prognosis. METHODS: Tumor tissues and adjacent normal tissues were collected from 105 patients with primary GC who were treated by undergoing radical surgery...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27993989/the-transcription-factor-mohawk-homeobox-regulates-homeostasis-of-the-periodontal-ligament
#18
Naoki Koda, Tempei Sato, Masahiro Shinohara, Shizuko Ichinose, Yoshiaki Ito, Ryo Nakamichi, Tomohiro Kayama, Kensuke Kataoka, Hidetsugu Suzuki, Keiji Moriyama, Hiroshi Asahara
The periodontal ligament (PDL), which connects the teeth to the alveolar bone, is essential for periodontal tissue homeostasis. Although the significance of the PDL is recognized, molecular mechanisms underlying PDL function are not well known. We report that mohawk homeobox (Mkx), a tendon-specific transcription factor, regulates PDL homeostasis by preventing its degeneration. Mkx is expressed in the mouse PDL at the age of 10 weeks and expression remained at similar levels at 12 months. In Mkx(-/-) mice, age-dependent expansion of the PDL at the maxillary first molar (M1) furcation area was observed...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27928823/identification-of-differentially-expressed-genes-in-longissimus-muscle-of-pigs-with-high-and-low-intramuscular-fat-content-using-rna-sequencing
#19
K S Lim, K T Lee, J E Park, W H Chung, G W Jang, B H Choi, K C Hong, T H Kim
Intramuscular fat (IMF) content in pork is an important element of consumer preference and is positively correlated with meat quality, including tenderness and juiciness. With advances in RNA sequencing technologies, transcriptome-related differences can be associated with specific traits in animals. The objective of this study was to investigate differentially expressed genes (DEGs) closely related to IMF content in porcine longissimus muscle using RNA sequencing. A total of 107 Berkshire pigs were used for IMF content measurements, and significant differences between extremely high (H, n = 3) and low (L, n = 3) IMF content groups were found (P < 0...
December 7, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27923447/amelioration-of-non-alcoholic-fatty-liver-disease-with-npc1l1-targeted-igy-or-n-3-polyunsaturated-fatty-acids-in-mice
#20
Jin-Sik Bae, Jong-Min Park, Junghoon Lee, Byung-Chul Oh, Sang-Ho Jang, Yun Bin Lee, Young-Min Han, Chan-Young Ock, Ji-Young Cha, Ki-Baik Hahm
Patients with non-alcoholic fatty liver disease (NAFLD) have an increased risk for progression to hepatocellular carcinoma in addition to comorbidities such as cardiovascular and serious metabolic diseases; however, the current therapeutic options are limited. Based on our previous report that omega-3 polyunsaturated fatty acids (n-3 PUFAs) can significantly ameliorate high fat diet (HFD)-induced NAFLD, we explored the therapeutic efficacy of n-3 PUFAs and N-IgY, which is a chicken egg yolk-derived IgY specific for the Niemann-Pick C1-Like 1 (NPC1L1) cholesterol transporter, on NAFLD in mice...
January 2017: Metabolism: Clinical and Experimental
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