Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 55 Records) |
Query Trace: EXT2[original query] |
---|
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. Journal of the American Heart Association 2014 Dec 3 (6): e001274. Mooij H L, Cabrales P, Bernelot Moens S J, Xu D, Udayappan S D, Tsai A G, van der Sande M A J, de Groot E, Intaglietta M, Kastelein J J P, Dallinga-Thie G M, Esko J D, Stroes E S, Nieuwdorp |
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. PloS one 2014 12 9 (12): e115662. Bernelot Moens Sophie J, Mooij Hans L, Hassing H Carlijne, Kruit Janine K, Witjes Julia J, van de Sande Michiel A J, Nederveen Aart J, Xu Ding, Dallinga-Thie Geesje M, Esko Jeffrey D, Stroes Erik S G, Nieuwdorp M |
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone 2015 Mar 72 123-7. Sgariglia Federica, Pedrini Elena, Bradfield Jonathan P, Bhatti Tricia R, D'Adamo Pio, Dormans John P, Gunawardena Aruni T, Hakonarson Hakon, Hecht Jacqueline T, Sangiorgi Luca, Pacifici Maurizio, Enomoto-Iwamoto Motomi, Grant Struan F |
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans. Journal of lipid research 2015 1 56 (3): 665-673. Mooij Hans L, Bernelot Moens Sophie J, Gordts PhilipL S M, Stanford KristinI, Foley ErinM, van den Boogert MarjoleinA W, Witjes JuliaJ, Hassing H Carlijne, Tanck MichaelW, van de Sande MichielA J, Levels J Han, Kastelein JohnJ P, Stroes ErikS G, Dallinga-Thie GeesjeM, Esko JeffD, Nieuwdorp M |
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle. Molecular and clinical oncology 2016 Sep 5 (3): 295-299. Zhou Qin, Yang Chi, Chen Min-Jie, Li Ling-Z |
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. Bone 2016 Sep 92 196-200. Cousminer Diana L, Arkader Alexandre, Voight Benjamin F, Pacifici Maurizio, Grant Struan F |
Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC genetics 2016 17 (1): 52. Ishimaru Daichi, Gotoh Masanori, Takayama Shinichiro, Kosaki Rika, Matsumoto Yoshihiro, Narimatsu Hisashi, Sato Takashi, Kimata Koji, Akiyama Haruhiko, Shimizu Katsuji, Matsumoto Ka |
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. BMC medical genetics 2017 11 18 (1): 126. Li Yuchan, Wang Jian, Wang Zhigang, Tang Jingyan, Yu Tingti |
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. Molecular genetics & genomic medicine 2018 3 6 (3): 382-392. Santos Savana C L, Rizzo Isabela M P O, Takata Reinaldo I, Speck-Martins Carlos E, Brum Jaime M, Sollaci Claud |
Biological background of the genomic variations of cf-DNA in healthy individuals. Annals of oncology : official journal of the European Society for Medical Oncology 2018 11 30 (3): 464-470. Liu J, Chen X, Wang J, Zhou S, Wang C L, Ye M Z, Wang X Y, Song Y, Wang Y Q, Zhang L T, Wu R H, Yang H M, Zhu S D, Zhou M Z, Zhang X C, Zhu H M, Qian Z |
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma. Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2020 7 26 (3): 483-486. Matsumoto Kazu, Ishimaru Daichi, Ogawa Hiroyasu, Komura Shingo, Shimizu Katsuji, Akiyama Haruhi |
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. Human genetics 2020 7 140 (2): 321-331. Horiuchi Yasue, Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Nishimura Seiichiro, Higashigawa Satomi, Kado Nobuhiro, Nagashima Takeshi, Mizuguchi Maki, Ohnami Sumiko, Arai Makoto, Urakami Kenichi, Kusuhara Masatoshi, Yamaguchi K |
The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility. Translational lung cancer research 2020 7 9 (3): 646-658. Liu Mengyuan, Liu Xinyi, Suo Peisu, Gong Yuan, Qu Baolin, Peng Xiumei, Xiao Wenhua, Li Yuemin, Chen Yan, Zeng Zhen, Lu Yinying, Huang Tanxiao, Zhao Yingshen, Liu Ming, Li Lifeng, Chen Yaru, Zhou Yanqing, Liu Guifeng, Yao Jianfei, Chen Shifu, Song Le |
An analysis of osteoporosis in patients with hereditary multiple exostoses. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020 7 31 (12): 2355-2361. Matsumoto K, Ogawa H, Nozawa S, Akiyama |
No correlation between the variants of exostosin 2 gene and type 2 diabetes in Burkina Faso population. Journal of public health in Africa 2020 Apr 11 (1): 1233. Ouedraogo Serge Yannick, Tchelougou Daméhan, Kologo Jonas Koudougou, Sombie Herman Karim, Zeye Moutanou Modeste Judes, Compaore Rebeca Tégwindé, Ouattara Abdoul Karim, Sorgho Abel Pegdwendé, Obiri-Yeboah Dorcas, Soubeiga Serge Théophile, Nagabila Issoufou, Yonli Albert Théophane, Djigma Florencia Wendkuuni, Simpore Jacqu |
A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients. Gastroenterology report 2021 Aug 9 (4): 339-349. Zhang Yin-Jie, Yang Yang, Wei Qing, Xu Ting, Zhang Xiao-Tian, Gao Jing, Tan Si-Yi, Liu Bao-Rui, Zhang Jing-Dong, Chen Xiao-Bing, Wang Zhao-Jie, Qiu Meng, Wang Xin, Shen Lin, Wang Xi-Che |
Somatic mutations in benign breast disease tissues and association with breast cancer risk. BMC medical genomics 2021 7 14 (1): 185. Winham Stacey J, Wang Chen, Heinzen Ethan P, Bhagwate Aditya, Liu Yuanhang, McDonough Samantha J, Stallings-Mann Melody L, Frost Marlene H, Vierkant Robert A, Denison Lori A, Carter Jodi M, Sherman Mark E, Radisky Derek C, Degnim Amy C, Cunningham Julie |
[Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 6 38 (6): 549-552. Guo Xiaoyan, Zheng Qinqin, Lin Mingrui, Zhang Yiyuan, Shi Tengf |
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. Molecular syndromology 2021 5 12 (2): 96-100. Wang Chen-Yu, Yu Fang, Jin Jie-Yuan, He Ji-Qiang, Fan Liang-Liang, Tang Ju-Yu, Xiang Ro |
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. Orphanet journal of rare diseases 2021 2 16 (1): 100. Al-Zayed Zayed, Al-Rijjal Roua A, Al-Ghofaili Lamya, BinEssa Huda A, Pant Rajeev, Alrabiah Anwar, Al-Hussainan Thamer, Zou Minjing, Meyer Brian F, Shi Yuf |
Genetic risk factors associated with gestational diabetes in a multi-ethnic population. PloS one 2021 12 16 (12): e0261137. Benny Paula, Ahn Hyeong Jun, Burlingame Janet, Lee Men-Jean, Miller Corrie, Chen John, Urschitz Joha |
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. Journal of clinical medicine 2022 7 11 (13): . Kim Sungmin, Lee Chang-Hyun, Choi Seok-Yong, Kim Myeong-Kyu, Jung Sung Ta |
Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier. Molecular genetics and genomics : MGG 2022 2 297 (2): 397-405. Khalil Ramzi, Boels Margien G S, , van den Berg Bernard M, Bruijn Jan A, Rabelink Ton J, Hogendoorn Pancras C W, Baelde Hans |
Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer. Human genomics 2023 7 17 (1): 66. Ning-Yuan Lee, Melissa Hum, Sabna Zihara, Lanying Wang, Matthew K Myint, Darren Wan-Teck Lim, Chee-Keong Toh, Anders Skanderup, Jens Samol, Min-Han Tan, Peter Ang, Soo-Chin Lee, Eng-Huat Tan, Gillianne G Y Lai, Daniel S W Tan, Yoon-Sim Yap, Ann S G L |
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas. Turkish archives of pediatrics 2023 6 . Nilay Güne?, Dilek Uluda? Alkaya, Asl? Toylu, Püren Özüdo?ru, Evrim Çifçi Sunamak, Ali ?eker, Bilal Demir, Sebuh Kuru?o?lu, Ercan M?hç?, Beyhan Tüys |
Genetic variants of cancer?associated genes analyzed using next?generation sequencing in small sporadic vestibular schwannomas. Oncology letters 2023 2 25 (3): 121. Fujita Takeshi, Sakai Kazuko, Uehara Natsumi, Hoshi Yujiro, Mori Anjin, Koyama Hajime, Sato Mitsuo, Saito Kazuya, Osaki Yasuhiro, Nishio Kazuto, Doi Katsu |
Genome-Wide Association Study and Identification of Candidate Genes for Intramuscular Fat Fatty Acid Composition in Ningxiang Pigs. Animals : an open access journal from MDPI 2023 10 13 (20): . Qinghua Zeng, Hu Gao, Shishu Yin, Yinglin Peng, Fang Yang, Yawei Fu, Xiaoxiao Deng, Yue Chen, Xiaohong Hou, Qian Wang, Zhao Jin, Gang Song, Jun He, Yulong Yin, Kang |
Prognostic Model for High-Grade Neuroendocrine Carcinoma of the Lung Incorporating Genomic Profiling and Poly (ADP-ribose) Polymerase-1 Expression. JCO precision oncology 2024 4 8 e2300495. Hye Sook Kim, Jong Kwang Kim, Jeong Hyeon Lee, Young Joo Lee, Geon-Kuk Lee, Ji-Youn H |
A glycosylation-related gene signature predicts prognosis, immune microenvironment infiltration, and drug sensitivity in glioma. Frontiers in pharmacology 2024 1 14 1259051. Yanbo Yang, Haiying Teng, Yulian Zhang, Fei Wang, Liyan Tang, Chuanpeng Zhang, Ziyi Hu, Yuxuan Chen, Yi Ge, Zhong Wang, Yanbing |
- Page last reviewed:Feb 1, 2024
- Content source: