Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: COMP[original query] |
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Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. Journal of human genetics 2001 46 (8): 456-62. Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa |
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. American journal of medical genetics. Part A 2004 Aug 129A (1): 35-8. Mabuchi Akihiko, Momohara Shigeki, Ohashi Hirofumi, Takatori Yoshio, Haga Nobuhiko, Nishimura Gen, Ikegawa Shi |
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. European journal of human genetics : EJHG 2005 Mar 13 (3): 292-301. Jakkula Eveliina, Mäkitie Outi, Czarny-Ratajczak Malwina, Czarny-Ratacjzak Malwina, Jackson Gail C, Damignani Rita, Susic Miki, Briggs Michael D, Cole William G, Ala-Kokko Lee |
Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis and rheumatism 2007 Jan 56 (1): 137-46. Valdes AM, Loughlin J, Oene MV, Chapman K, Surdulescu GL, Doherty M, Spector TD |
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. American journal of medical genetics. Part A 2011 Nov 155A (11): 2669-80. Kim Ok-Hwa, Park Hyunwoong, Seong Moon-Woo, Cho Tae-Joon, Nishimura Gen, Superti-Furga Andrea, Unger Sheila, Ikegawa Shiro, Choi In Ho, Song Hae-Ryong, Kim Hyun Woo, Yoo Won Joon, Shim Jong Sup, Chung Chin Youb, Oh Chang-Wug, Jeong Changhoon, Song Kwang Soon, Seo Sang Gyo, Cho Sung Im, Yeo Im Kyung, Kim So Yeon, Park Seungman, Park Sung S |
Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations. Journal of sports sciences 2014 32 (1): 92-100. Saunders Colleen J, Van Der Merwe Lize, Cook Jill, Handley Christopher J, Collins Malcolm, September Alison |
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European journal of human genetics : EJHG 2014 Jan 22 (1): 79-87. Wiszniewska Joanna, Bi Weimin, Shaw Chad, Stankiewicz Pawel, Kang Sung-Hae L, Pursley Amber N, Lalani Seema, Hixson Patricia, Gambin Tomasz, Tsai Chun-hui, Bock Hans-Georg, Descartes Maria, Probst Frank J, Scaglia Fernando, Beaudet Arthur L, Lupski James R, Eng Christine, Cheung Sau Wai, Bacino Carlos, Patel Anki |
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
Journal of medical genetics 2014 Sep 51 (9): 596-604. Ramos Yolande F M, Metrustry Sarah, Arden Nigel, Bay-Jensen Anne C, Beekman Marian, de Craen Anton J M, Cupples L Adrienne, Esko Tõnu, Evangelou Evangelos, Felson David T, Hart Deborah J, Ioannidis John P A, Karsdal Morten, Kloppenburg Margreet, Lafeber Floris, Metspalu Andres, Panoutsopoulou Kalliope, Slagboom P Eline, Spector Tim D, van Spil Erwin W E, Uitterlinden Andre G, Zhu Yanyan, , , Valdes Ana M, van Meurs Joyce B J, Meulenbelt Ingr |
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal of the American Society of Nephrology : JASN 2014 Oct 25 (10): 2366-75. Dasgupta Debayan, Wee Mark J, Reyes Monica, Li Yuwen, Simm Peter J, Sharma Amita, Schlingmann Karl-Peter, Janner Marco, Biggin Andrew, Lazier Joanna, Gessner Michaela, Chrysis Dionisios, Tuchman Shamir, Baluarte H Jorge, Levine Michael A, Tiosano Dov, Insogna Karl, Hanley David A, Carpenter Thomas O, Ichikawa Shoji, Hoppe Bernd, Konrad Martin, Sävendahl Lars, Munns Craig F, Lee Hang, Jüppner Harald, Bergwitz Cleme |
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC musculoskeletal disorders 2014 15 (1): 84. Seo Sang Gyo, Song Hae-Ryong, Kim Hyun Woo, Yoo Won Joon, Shim Jong Sup, Chung Chin Youb, Park Moon Seok, Oh Chang-Wug, Jeong Changhoon, Song Kwang Soon, Kim Ok-Hwa, Park Sung Sup, Choi In Ho, Cho Tae-Jo |
Functional Changes in the Language Network in Response to Increased Amyloid ß Deposition in Cognitively Intact Older Adults. Cerebral cortex (New York, N.Y. : 1991) 2014 Dec . Adamczuk Katarzyna, De Weer An-Sofie, Nelissen Natalie, Dupont Patrick, Sunaert Stefan, Bettens Karolien, Sleegers Kristel, Van Broeckhoven Christine, Van Laere Koen, Vandenberghe R |
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
Gender Differences in Marital Status Moderation of Genetic and Environmental Influences on Subjective Health. Behavior genetics 2015 Oct . Finkel Deborah, Franz Carol E, Horwitz Briana, Christensen Kaare, Gatz Margaret, Johnson Wendy, Kaprio Jaako, Korhonen Tellervo, Niederheiser Jenae, Petersen Inge, Rose Richard J, Silventoinen Kar |
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. Human genome variation 2016 3 16009. Luo Huaichao, Yu Sisi, Lin Ying, Guo Qi, Ma Rongchuan, Ye Zimeng, Di Yanan, Li Ning, Miao Yuanying, Zhou Yu, Li Yuanfeng, Yang Jiyun, Yang Zhengl |
Genetic Variation in the Vesicular Monoamine Transporter: Preliminary Associations With Cognitive Outcomes After Severe Traumatic Brain Injury. The Journal of head trauma rehabilitation 2016 Jan . Markos Steven M, Failla Michelle D, Ritter Anne C, Dixon C Edward, Conley Yvette P, Ricker Joseph H, Arenth Patricia M, Juengst Shannon B, Wagner Amy |
Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nature genetics 2017 7 49 (8): 1286. Styrkarsdottir Unnur, Helgason Hannes, Sigurdsson Asgeir, Norddahl Gudmundur L, Agustsdottir Arna B, Reynard Louise N, Villalvilla Amanda, Halldorsson Gisli H, Jonasdottir Aslaug, Magnusdottir Audur, Oddson Asmundur, Sulem Gerald, Zink Florian, Sveinbjornsson Gardar, Helgason Agnar, Johannsdottir Hrefna S, Helgadottir Anna, Stefansson Hreinn, Gretarsdottir Solveig, Rafnar Thorunn, Almdahl Ina S, Brækhus Anne, Fladby Tormod, Selbæk Geir, Hosseinpanah Farhad, Azizi Fereidoun, Koh Jung Min, Tang Nelson L S, Danesphour Maryams, Mayordomo Jose I, Welt Corrine, Braund Peter S, Samani Nilesh J, Kiemeney Lambertus A, Lohmander L Stefan, Christiansen Claus, Andreassen Ole A, Consortium arcOGEN, Magnusson Olafur, Masson Gisli, Kong Augustine, Jonsdottir Ingileif, Gudbjartsson Daniel, Sulem Patrick, Jonsson Helgi, Loughlin John, Ingvarsson Thorvaldur, Thorsteinsdottir Unnur, Stefansson Ka |
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
Nature genetics 2017 Mar . Styrkarsdottir Unnur, Helgason Hannes, Sigurdsson Asgeir, Norddahl Gudmundur L, Agustsdottir Arna B, Reynard Louise N, Villalvilla Amanda, Halldorsson Gisli H, Jonasdottir Aslaug, Magnusdottir Audur, Oddson Asmundur, Sulem Gerald, Zink Florian, Sveinbjornsson Gardar, Helgason Agnar, Johannsdottir Hrefna S, Helgadottir Anna, Stefansson Hreinn, Gretarsdottir Solveig, Rafnar Thorunn, Almdahl Ina S, Brækhus Anne, Fladby Tormod, Selbæk Geir, Hosseinpanah Farhad, Azizi Fereidoun, Koh Jung Min, Tang Nelson L S, Danesphour Maryams, Mayordomo Jose I, Welt Corrine, Braund Peter S, Samani Nilesh J, Kiemeney Lambertus A, Lohmander L Stefan, Christiansen Claus, Andreassen Ole A, , Magnusson Olafur, Masson Gisli, Kong Augustine, Jonsdottir Ingileif, Gudbjartsson Daniel, Sulem Patrick, Jonsson Helgi, Loughlin John, Ingvarsson Thorvaldur, Thorsteinsdottir Unnur, Stefansson Ka |
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. The Turkish journal of pediatrics 2018 7 59 (6): 619-624. Çetinkaya Arda, Ta?k?ran Ekim, Soyer Tutku, ?im?ek-Kiper Pelin Özlem, Utine Gülen Eda, Tunçbilek Gökhan, Boduro?lu Koray, Alika?ifo?lu Mehm |
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia. American journal of medical genetics. Part A 2019 2 179 (4): 534-541. Dasa Vinod, Eastwood James R B, Podgorski Michal, Park Heewon, Blackstock Christopher, Antoshchenko Tetyana, Rogala Piotr, Bieganski Tadeusz, Jazwinski S Michal, Czarny-Ratajczak Malwi |
[Lipoprotein(?) Level, Apolipoprotein(?) Polymorphism ?nd Auto?ntibodies Against Lipoprotein(?) in Patients with Stenotic C?rotid Atherosclerosis]. Kardiologiia 2019 Dec 59 (12): 20-27. Tmoyan N A, Afanasieva O I, Ezhov M V, Klesareva E A, Afanasieva M I, Razova O A, Balakhonova T V, Pokrovsky S |
Identifying the role of ASPN and COMP genes in knee osteoarthritis development. Journal of orthopaedic surgery and research 2019 Oct 14 (1): 337. Mishra Abhishek, Awasthi Sachin, Raj Saloni, Mishra Priya, Srivastava Rajeshwar Na |
Coexisting EGFR and TP53 Mutations in Lung Adenocarcinoma Patients Are Associated With COMP and ITGB8 Upregulation and Poor Prognosis. Frontiers in molecular biosciences 2020 3 7 30. Zheng Chang, Li Xuelian, Ren Yangwu, Yin Zhihua, Zhou Baos |
Diagnostic, Therapeutic, and Prognostic Value of the Thrombospondin Family in Gastric Cancer. Frontiers in molecular biosciences 2021 5 8 647095. Lu Yi, Kong Xianhe, Zhong Weijie, Hu Minhui, Li Chuj |
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants. Calcified tissue international 2021 10 110 (3): 313-323. Liang Hanting, Hou Yanfang, Pang Qianqian, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Zhu Huijuan, Xia Wei |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
Increased CRP, anti-CCP antibody, IL-2R, COMP levels in prognosis of post-chikungunya chronic arthritis and protective role of their specific genotypes against arthritic manifestation. Virus research 2022 11 323 198998. Sengupta Siddhartha, Bhattacharya Nemai, Tripathi Anus |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Associations between genetic variants in sphingolipid metabolism pathway genes and hepatitis B virus-related hepatocellular carcinoma survival. Frontiers in oncology 2024 1 13 1252158. Binbin Jiang, Moqin Qiu, Liming Qin, Jingmei Tang, Shicheng Zhan, Qiuling Lin, Junjie Wei, Yingchun Liu, Zihan Zhou, Xiumei Liang, Ji Cao, Jiawei Lian, Yuejiao Mai, Yanji Jiang, Hongping |
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- Page last updated:Apr 22, 2024
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