HuGE Literature Finder
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Records 1-43
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The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk.
Molecular genetics & genomic medicine 2019 Sep e942. Ma Huijun, He Yongjun, Bai Mei, Zhu Linhao, He Xue, Wang Li, Jin Tian |
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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta neuropathologica communications 2019 Aug 7 (1): 140. Jungwirth Gerhard, Warta Rolf, Beynon Christopher, Sahm Felix, von Deimling Andreas, Unterberg Andreas, Herold-Mende Christel, Jungk Christi |
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Mutation landscape and tumor mutation burden analysis of Chinese patients with pulmonary sarcomatoid carcinomas.
International journal of clinical oncology 2019 May . Liang Xiaohong, Li Qing, Xu Bin, Hu Song, Wang Qianyun, Li Yan, Zong Yun, Zhang Sujuan, Li Cho |
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Targeted next-generation sequencing reveals recurrence-associated genomic alterations in early-stage non-small cell lung cancer.
Oncotarget 2018 Nov 9 (91): 36344-36357. Cho William C S, Tan Kien Thiam, Ma Victor W S, Li Jacky Y C, Ngan Roger K C, Cheuk Wah, Yip Timothy T C, Yang Yi-Ting, Chen Shu-J |
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Correlation of rs1122608 SNP with acute myocardial infarction susceptibility and clinical characteristics in a Chinese Han population: A case-control study.
Anatolian journal of cardiology 2018 Apr 19 (4): 249-258. Chen Quan Fang, Wang Wei, Huang Zhou, Huang Dong Ling, Li Tian, Wang Fan, Li J |
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Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
PLoS genetics 2018 Mar 14 (3): e1007200. Hänninen Ulrika A, Katainen Riku, Tanskanen Tomas, Plaketti Roosa-Maria, Laine Riku, Hamberg Jiri, Ristimäki Ari, Pukkala Eero, Taipale Minna, Mecklin Jukka-Pekka, Forsström Linda M, Pitkänen Esa, Palin Kimmo, Välimäki Niko, Mäkinen Netta, Aaltonen Lauri |
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Comprehensive analysis of cancers of unknown primary for the biomarkers of response to immune checkpoint blockade therapy.
European journal of cancer (Oxford, England : 1990) 2018 05 94 179-186. Gatalica Zoran, Xiu Joanne, Swensen Jeff, Vranic Sem |
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TERT promoter wild-type glioblastomas show distinct clinical features and frequent PI3K pathway mutations.
Acta neuropathologica communications 2018 10 6 (1): 106. Williams Erik A, Miller Julie J, Tummala Shilpa S, Penson Tristan, Iafrate A John, Juratli Tareq A, Cahill Daniel |
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Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility.
Oncotarget 2017 Aug 8 (35): 59397-59407. Ji Yuqiang, Song Yanbin, Wang Qingwen, Xu Pengcheng, Zhao Zhao, Li Xia, Wang Nan, Jin Tianbo, Chen Ch |
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The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
Nature genetics 2017 Jul . Liu Yu, Easton John, Shao Ying, Maciaszek Jamie, Wang Zhaoming, Wilkinson Mark R, McCastlain Kelly, Edmonson Michael, Pounds Stanley B, Shi Lei, Zhou Xin, Ma Xiaotu, Sioson Edgar, Li Yongjin, Rusch Michael, Gupta Pankaj, Pei Deqing, Cheng Cheng, Smith Malcolm A, Auvil Jaime Guidry, Gerhard Daniela S, Relling Mary V, Winick Naomi J, Carroll Andrew J, Heerema Nyla A, Raetz Elizabeth, Devidas Meenakshi, Willman Cheryl L, Harvey Richard C, Carroll William L, Dunsmore Kimberly P, Winter Stuart S, Wood Brent L, Sorrentino Brian P, Downing James R, Loh Mignon L, Hunger Stephen P, Zhang Jinghui, Mullighan Charles |
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Targeted sequencing-based analyses of candidate gene variants in ulcerative colitis-associated colorectal neoplasia.
British journal of cancer 2017 Jun 117 (1): 136-143. Chakrabarty Sanjiban, Varghese Vinay Koshy, Sahu Pranoy, Jayaram Pradyumna, Shivakumar Bhadravathi M, Pai Cannanore Ganesh, Satyamoorthy Kapaet |
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Epigenome-wide association of myocardial infarction with DNA methylation sites at loci related to cardiovascular disease.
Clinical epigenetics 2017 9 54. Nakatochi Masahiro, Ichihara Sahoko, Yamamoto Ken, Naruse Keiko, Yokota Shigeki, Asano Hiroyuki, Matsubara Tatsuaki, Yokota Mitsuhi |
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Molecular alterations of coexisting thyroid papillary carcinoma and anaplastic carcinoma: identification of TERT mutation as an independent risk factor for transformation.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 11 30 (11): 1527-1537. Oishi Naoki, Kondo Tetsuo, Ebina Aya, Sato Yukiko, Akaishi Junko, Hino Rumi, Yamamoto Noriko, Mochizuki Kunio, Nakazawa Tadao, Yokomichi Hiroshi, Ito Koichi, Ishikawa Yuichi, Katoh Ryoh |
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Variants in the SMARCA4 gene was associated with coronary heart disease susceptibility in Chinese han population.
Oncotarget 2016 Dec . Guo Xuan, Wang Xiaohong, Wang Yuan, Zhang Chunyan, Quan Xiaohui, Zhang Yan, Jia Sh |
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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
PLoS genetics 2016 Oct 12 (10): e1006335. Preuss Christoph, Capredon Melanie, Wünnemann Florian, Chetaille Philippe, Prince Andrea, Godard Beatrice, Leclerc Severine, Sobreira Nara, Ling Hua, Awadalla Philip, Thibeault Maryse, Khairy Paul, , Samuels Mark E, Andelfinger Greg |
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GBM-associated mutations and altered protein expression are more common in young patients.
Oncotarget 2016 Aug . Ferguson Sherise D, Xiu Joanne, Weathers Shiao-Pei, Zhou Shouhao, Kesari Santosh, Weiss Stephanie E, Verhaak Roeland G, Hohl Raymond J, Barger Geoffrey R, Reddy Sandeep K, Heimberger Amy |
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The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
Gynecologic oncology 2016 Mar . Witkowski Leora, Goudie Catherine, Ramos Pilar, Boshari Talia, Brunet Jean-Sebastien, Karnezis Anthony N, Longy Michel, Knost James A, Saloustros Emmanouil, McCluggage W Glenn, Stewart Colin J R, Hendricks William P D, Cunliffe Heather, Huntsman David G, Pautier Patricia, Levine Douglas A, Trent Jeffrey M, Berchuck Andrew, Hasselblatt Martin, Foulkes William |
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Germline Variants of Prostate Cancer in Japanese Families.
PloS one 2016 11 (10): e0164233. Hayano Takahide, Matsui Hiroshi, Nakaoka Hirofumi, Ohtake Nobuaki, Hosomichi Kazuyoshi, Suzuki Kazuhiro, Inoue Itu |
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Genetic variants in the SWI/SNF complex and smoking collaborate to modify the risk of pancreatic cancer in a Chinese population.
Molecular carcinogenesis 2015 Sep 54 (9): 761-8. Zhu Beibei, Tian Jing, Zhong Rong, Tian Yao, Chen Wei, Qian Jiaming, Zou Li, Xiao Min, Shen Na, Yang Hong, Lou Jiao, Qiu Qian, Ke Juntao, Lu Xinghua, Song Wei, Li Hui, Liu Li, Wang Li, Miao Xiaopi |
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Targeted genomic profiling reveals recurrent KRAS mutations and gain of chromosome 1q in mesonephric carcinomas of the female genital tract.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 Sep . Mirkovic Jelena, Sholl Lynette M, Garcia Elizabeth, Lindeman Neal, MacConaill Laura, Hirsch Michelle, Dal Cin Paola, Gorman Melissa, Barletta Justine A, Nucci Marisa R, McCluggage W Glenn, Howitt Brooke |
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CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.
Journal of neuro-oncology 2015 Aug . Dahlin Anna M, Hollegaard Mads V, Wibom Carl, Andersson Ulrika, Hougaard David M, Deltour Isabelle, Hjalmars Ulf, Melin Beatri |
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A population-based single nucleotide polymorphism array analysis of genomic aberrations in younger adult acute lymphoblastic leukemia patients.
Genes, chromosomes & cancer 2015 May 54 (5): 326-33. Dirse Vaidas, Bertasiute Agne, Gineikiene Egle, Zvirblis Tadas, Dambrauskiene Ruta, Gerbutavicius Rolandas, Juozaityte Elona, Malciute Ligita, Paulsson Kajsa, Griskevicius Laimon |
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Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Feb 17 (2): 131-42. Esteban-Jurado Clara, Vila-Casadesús Maria, Garre Pilar, Lozano Juan José, Pristoupilova Anna, Beltran Sergi, Muñoz Jenifer, Ocaña Teresa, Balaguer Francesc, López-Cerón Maria, Cuatrecasas Miriam, Franch-Expósito Sebastià, Piqué Josep M, Castells Antoni, Carracedo Angel, Ruiz-Ponte Clara, Abulí Anna, Bessa Xavier, Andreu Montserrat, Bujanda Luis, Caldés Trinidad, Castellví-Bel Ser |
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Association of a transcription factor 21 gene polymorphism with hypertension.
Biomedical reports 2015 Jan 3 (1): 118-122. Fujimaki Tetsuo, Oguri Mitsutoshi, Horibe Hideki, Kato Kimihiko, Matsuoka Reiko, Abe Shintaro, Tokoro Fumitaka, Arai Masazumi, Noda Toshiyuki, Watanabe Sachiro, Yamada Yoshi |
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Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 12. Authors are not available |
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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
American journal of medical genetics. Part C, Seminars in medical genetics 2014 Sep 166C (3): 262-75. Kosho Tomoki, Okamoto Nobuhiko, |
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Common genetic variants do not associate with CAD in familial hypercholesterolemia.
European journal of human genetics : EJHG 2014 Jun 22 (6): 809-13. van Iperen Erik P A, Sivapalaratnam Suthesh, Boekholdt S Matthijs, Hovingh G Kees, Maiwald Stephanie, Tanck Michael W, Soranzo Nicole, Stephens Jonathan C, Sambrook Jennifer G, Levi Marcel, Ouwehand Willem H, Kastelein John Jp, Trip Mieke D, Zwinderman Aeilko |
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BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3.
Human genetics 2014 May 133 (5): 499-508. Xiong Xin, Xu Chengqi, Zhang Yuting, Li Xiuchun, Wang Binbin, Wang Fan, Yang Qin, Wang Dan, Wang Xiaojing, Li Sisi, Chen Shanshan, Zhao Yuanyuan, Yin Dan, Huang Yufeng, Zhu Xuan, Wang Li, Wang Longfei, Chang Le, Xu Chaoping, Li Hui, Ke Tie, Ren Xiang, Wu Yanxia, Zhang Rongfeng, Wu Tangchun, Xia Yunlong, Yang Yanzong, Ma Xu, Tu Xin, Wang Qing |
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Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
Nature genetics 2014 May 46 (5): 427-9. Ramos Pilar, Karnezis Anthony N, Craig David W, Sekulic Aleksandar, Russell Megan L, Hendricks William P D, Corneveaux Jason J, Barrett Michael T, Shumansky Karey, Yang Yidong, Shah Sohrab P, Prentice Leah M, Marra Marco A, Kiefer Jeffrey, Zismann Victoria L, McEachron Troy A, Salhia Bodour, Prat Jaime, D'Angelo Emanuela, Clarke Blaise A, Pressey Joseph G, Farley John H, Anthony Stephen P, Roden Richard B S, Cunliffe Heather E, Huntsman David G, Trent Jeffrey |
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Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.
Acta medica Iranica 2014 52 (5): 352-9. Jamaldini Seyed Hamid, Babanejad Mojgan, Mozaffari Reza, Nikzat Nooshin, Jalalvand Khadijeh, Badiei Azadeh, Sanati Hamidreza, Shakerian Farshad, Afshari Mahdi, Kahrizi Kimia, Najmabadi Hosse |
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Genetic variant in SWI/SNF complexes influences hepatocellular carcinoma risk: a new clue for the contribution of chromatin remodeling in carcinogenesis.
Scientific reports 2014 4 4147. Zhong Rong, Liu Li, Tian Yao, Wang Ying, Tian Jing, Zhu Bei-bei, Chen Wei, Qian Jia-ming, Zou Li, Xiao Min, Shen Na, Yang Hong, Lou Jiao, Qiu Qian, Ke Jun-tao, Lu Xing-hua, Wang Zhen-ling, Song Wei, Zhang Ti, Li Hui, Wang Li, Miao Xiao-pi |
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Genetic variants associated with myocardial infarction and the risk factors in Chinese population.
PloS one 2014 9 (1): e86332. Wang Yongqin, Wang Lefeng, Liu Xin, Zhang Yongzhi, Yu Liping, Zhang Fan, Liu Lisheng, Cai Jun, Yang Xinchun, Wang Xing |
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Mutations of epigenetic regulatory genes are common in thymic carcinomas.
Scientific reports 2014 4 7336. Wang Yisong, Thomas Anish, Lau Christopher, Rajan Arun, Zhu Yuelin, Killian J Keith, Petrini Iacopo, Pham Trung, Morrow Betsy, Zhong Xiaogang, Meltzer Paul S, Giaccone Giusep |
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Mutations of epigenetic regulatory genes are common in thymic carcinomas.
Scientific reports 2014 4 7336. Wang Yisong, Thomas Anish, Lau Christopher, Rajan Arun, Zhu Yuelin, Killian J Keith, Petrini Iacopo, Pham Trung, Morrow Betsy, Zhong Xiaogang, Meltzer Paul S, Giaccone Giusep |
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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Human mutation 2013 Nov 34 (11): 1519-28. Santen Gijs W E, Aten Emmelien, Vulto-van Silfhout Anneke T, Pottinger Caroline, van Bon Bregje W M, van Minderhout Ivonne J H M, Snowdowne Ronelle, van der Lans Christian A C, Boogaard Merel, Linssen Margot M L, Vijfhuizen Linda, van der Wielen Michiel J R, Vollebregt M J Ellen, , Breuning Martijn H, Kriek Marjolein, van Haeringen Arie, den Dunnen Johan T, Hoischen Alexander, Clayton-Smith Jill, de Vries Bert B A, Hennekam Raoul C M, van Belzen Martine |
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SWI/SNF gene variants and glioma risk and outcome.
Cancer epidemiology 2013 Apr 37 (2): 162-5. Amankwah Ernest K, Thompson Reid C, Nabors L Burton, Olson Jeffrey J, Browning James E, Madden Melissa H, Egan Kathleen |
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Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis.
Annals of the rheumatic diseases 2011 Sep 70 (9): 1641-4. Bowes John, Orozco Gisela, Flynn Edward, Ho Pauline, Brier Rasha, Marzo-Ortega Helena, Coates Laura, McManus Ross, Ryan Anthony W, Kane David, Korendowych Eleanor, McHugh Neil, FitzGerald Oliver, Packham Jonathan, Morgan Ann W, Bruce Ian N, Barton An |
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Large-scale candidate gene analysis of HDL particle features.
PloS one 2011 6 (1): e14529. Kaess Bernhard M, Tomaszewski Maciej, Braund Peter S, Stark Klaus, Rafelt Suzanne, Fischer Marcus, Hardwick Robert, Nelson Christopher P, Debiec Radoslaw, Huber Fritz, Kremer Werner, Kalbitzer Hans Robert, Rose Lynda M, Chasman Daniel I, Hopewell Jemma, Clarke Robert, Burton Paul R, Tobin Martin D, Hengstenberg Christian, Samani Nilesh |
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Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.
Blood 2010 Dec 116 (25): 5688-97. Martinelli Nicola, Girelli Domenico, Lunghi Barbara, Pinotti Mirko, Marchetti Giovanna, Malerba Giovanni, Pignatti Pier Franco, Corrocher Roberto, Olivieri Oliviero, Bernardi Frances |
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Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Diabetes care 2010 Oct 33 (10): 2250-3. Bailey Swneke D, Xie Changchun, Do Ron, Montpetit Alexandre, Diaz Rafael, Mohan Viswanathan, Keavney Bernard, Yusuf Salim, Gerstein Hertzel C, Engert James C, Anand Sonia, |
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
American journal of human genetics 2009 Nov 85 (5): 628-42. Talmud Philippa J, Drenos Fotios, Shah Sonia, Shah Tina, Palmen Jutta, Verzilli Claudio, Gaunt Tom R, Pallas Jacky, Lovering Ruth, Li Kawah, Casas Juan Pablo, Sofat Reecha, Kumari Meena, Rodriguez Santiago, Johnson Toby, Newhouse Stephen J, Dominiczak Anna, Samani Nilesh J, Caulfield Mark, Sever Peter, Stanton Alice, Shields Denis C, Padmanabhan Sandosh, Melander Olle, Hastie Claire, Delles Christian, Ebrahim Shah, Marmot Michael G, Smith George Davey, Lawlor Debbie A, Munroe Patricia B, Day Ian N, Kivimaki Mika, Whittaker John, Humphries Steve E, Hingorani Aroon D, , , |
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Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort.
BMC cancer 2009 9 (1): 43. Haiman Christopher A, Garcia Rachel R, Hsu Chris, Xia Lucy, Ha Helen, Sheng Xin, Le Marchand Loic, Kolonel Laurence N, Henderson Brian E, Stallcup Michael R, Greene Geoffrey L, Press Michael |
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Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Journal of lipid research 2008 Dec 49 (12): 2582-9. Lu Yingchang, Dollé Martijn E T, Imholz Sandra, van 't Slot Ruben, Verschuren W M Monique, Wijmenga Cisca, Feskens Edith J M, Boer Jolanda M |
- Page last reviewed:Jul 30, 2019
- Page last updated:Sep 18, 2019
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