Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: TPM3[original query] |
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Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 2002 Aug 59 (4): 613-7. Wattanasirichaigoon D, Swoboda K J, Takada F, Tong H-Q, Lip V, Iannaccone S T, Wallgren-Pettersson C, Laing N G, Beggs A |
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Human genetics 2010 Mar 127 (3): 325-36. LopezJimenez Nelson, Gerber Simon, Popovici Vlad, Mirza Sonia, Copren Kirsten, Ta Linda, Shaw Gary M, Trueb Beat, Slavotinek Anne |
Fusion of EML4 and ALK is associated with development of lung adenocarcinomas lacking EGFR and KRAS mutations and is correlated with ALK expression. Molecular cancer 2010 9 (1): 188. Zhang Xuchao, Zhang Shirley, Yang Xuening, Yang Jinji, Zhou Qing, Yin Lucy, An Shejuan, Lin Jiaying, Chen Shiliang, Xie Zhi, Zhu Mike, Zhang Xiaolin, Wu Yi-lo |
Detecting ALK, ROS1 and RET Fusion Genes in Cell Block Samples. Translational oncology 2014 Jun 7 (3): 363-7. Zhao Chao, Li Xuefei, Li Jiayu, Zhang Yishi, Ren Shengxiang, Chen Xiaoxia, Zhou Caic |
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. Neuromuscular disorders : NMD 2014 Apr 24 (4): 325-30. Citirak Gülsenay, Witting Nanna, Duno Morten, Werlauff Ulla, Petri Helle, Vissing Jo |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. Journal of neuromuscular diseases 2018 7 5 (3): 307-314. Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Udd Bjarne, Wallgren-Pettersson Carina, Pelin Katarina, Kiiski Kir |
Molecular and clinicopathological characteristics of ROS1-rearranged non-small-cell lung cancers identified by next-generation sequencing. Molecular oncology 2020 Sep . Cui Meiying, Han Yuchen, Li Pan, Zhang Jianying, Ou Qiuxiang, Tong Xiaoling, Zhao Ruiying, Dong Nan, Wu Xue, Li Wencai, Jiang Guozho |
Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease. Genomics 2020 4 112 (5): 3722-3728. Odumpatta Rajasree, Mohanapriya Arumug |
Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Apr . Wang Yuzhuo, Gorlova Olga Y, Gorlov Ivan P, Zhu Meng, Dai Juncheng, Albanes Demetrius, Lam Stephen, Tardon Adonina, Chen Chu, Goodman Gary E, Bojesen Stig E, Landi Maria Teresa, Johansson Mattias, Risch Angela, Wichmann Heunz-Erich, Bickeboller Heike, Christiani David C, Rennert Gad, Arnold Susanne M, Brennan Paul, Field John K, Shete Sanjay, Le Marchand Loïc, Melander Olle, Brunnstrom Hans, Liu Geoffrey, Hung Rayjean J, Andrew Angeline S, Kiemeney Lambertus A, Zienolddiny Shanbeh, Grankvist Kjell, Johansson Mikael, Caporaso Neil E, Woll Penella J, Lazarus Philip, Schabath Matthew B, Aldrich Melinda C, Stevens Victoria L, Ma Hongxia, Jin Guangfu, Hu Zhibin, Amos Christopher I, Shen Hongbi |
NTRK oncogenic fusions are exclusively associated with the serrated neoplasia pathway in the colorectum and begin to occur in sessile serrated lesions. The Journal of pathology 2021 8 255 (4): 399-411. Kim Jung Ho, Hong Jeong Hoon, Choi Yoon-La, Lee Ji Ae, Seo Mi-Kyoung, Lee Mi-Sook, An Sung Bin, Sung Min Jung, Cho Nam-Yun, Kim Sung-Su, Shin Young Kee, Kim Sangwoo, Kang Gyeong Ho |
NTRK Fusion Genes in Thyroid Carcinomas: Clinicopathological Characteristics and Their Impacts on Prognosis. Cancers 2021 4 13 (8): . Pekova Barbora, Sykorova Vlasta, Mastnikova Karolina, Vaclavikova Eliska, Moravcova Jitka, Vlcek Petr, Lastuvka Petr, Taudy Milos, Katra Rami, Bavor Petr, Kodetova Daniela, Chovanec Martin, Drozenova Jana, Astl Jaromir, Hrabal Petr, Vcelak Josef, Bendlova Be |
NTRK fusion-positive colorectal cancer in Japanese population. Pathology international 2021 2 71 (5): 355-359. Yonemaru Junpei, Hashimoto Taiki, Takayanagi Daisuke, Naka Tomoaki, Yatabe Yasushi, Kanemitsu Yukihide, Shiraishi Kouya, Sekine Shige |
Integrating SNPs-based genetic risk factor with blood epigenomic response of differentially arsenic-exposed rural subjects reveals disease-associated signaling pathways. Environmental pollution (Barking, Essex : 1987) 2021 10 292 (Pt A): 118279. Rehman Muhammad Yasir Abdur, Briedé Jacco Jan, van Herwijnen Marcel, Krauskopf Julian, Jennen Danyel G J, Malik Riffat Naseem, Kleinjans Jos C |
MET gene amplification is a mechanism of resistance to entrectinib in ROS1+ NSCLC. Thoracic cancer 2022 9 13 (21): 3032-3041. Tyler Logan C, Le Anh T, Chen Nan, Nijmeh Hala, Bao Liming, Wilson Timothy R, Chen David, Simmons Brian, Turner Kristen M, Perusse Dean, Kasibhatla Shailaja, Christiansen Jason, Dudek Arkadiusz Z, Doebele Robert |
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. Acta neurologica Belgica 2023 7 . Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqi |
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Annals of clinical and translational neurology 2023 6 . Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarko |
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- Page last updated:Apr 22, 2024
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