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Select item 70580011.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer

Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5

PMCID:: PMC7058001

Abstract Article PDF–1.5M

Select item 70570962.

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy

Xiao‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li

Mol Genet Genomic Med. 2020 Mar; 8(3): e1048. Published online 2020 Jan 21. doi: 10.1002/mgg3.1048

PMCID:: PMC7057096

Abstract Article PDF–1.0M

Select item 70271953.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 69819814.

A Novel Tissue and Stem Cell Specific TERF1 Splice Variant Is Downregulated in Tumour Cells

Yousef Ashraf Tawfik Morcos, Gregoire Najjar, Sabine Meessen, Britta Witt, Anca Azoitei, Mukesh Kumar, Gamal Wakileh, Klaus Schwarz, Hubert Schrezenmeier, Friedemann Zengerling, Christian Bolenz, Cagatay Günes

Int J Mol Sci. 2020 Jan; 21(1): 85. Published online 2019 Dec 20. doi: 10.3390/ijms21010085

PMCID:: PMC6981981

Abstract Article PDF–6.4M

Select item 69003935.

Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population

Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini

Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983

PMCID:: PMC6900393

Abstract Article PDF–604K

Select item 68171286.

Rare LPL gene missense mutation in an infant with hypertriglyceridemia

Yuan‐yuan Qin, Ai‐qiu Wei, Qing‐wen Shan, Xiao‐ying Xian, Yang‐yang Wu, Lin Liao, Jie Yan, Zhan‐feng Lai, Fa‐quan Lin

J Clin Lab Anal. 2018 Jul; 32(6): e22414. Published online 2018 Feb 25. doi: 10.1002/jcla.22414

PMCID:: PMC6817128

Abstract Article PDF–531K

Select item 67668937.

Crumbs3 is a critical factor that regulates invasion and metastasis of colon adenocarcinoma via the specific interaction with FGFR1

Hidekazu Iioka, Ken Saito, Masakiyo Sakaguchi, Taro Tachibana, Keiichi Homma, Eisaku Kondo

Int J Cancer. 2019 Nov 15; 145(10): 2740–2753. Published online 2019 Apr 29. doi: 10.1002/ijc.32336

PMCID:: PMC6766893

Abstract Article PDF–3.6M

Select item 67467708.

Metadherin enhances vulnerability of cancer cells to ferroptosis

Jianling Bi, Shujie Yang, Long Li, Qun Dai, Nicholas Borcherding, Brett A. Wagner, Garry R. Buettner, Douglas R. Spitz, Kimberly K. Leslie, Jun Zhang, Xiangbing Meng

Cell Death Dis. 2019 Oct; 10(10): 682. Published online 2019 Sep 17. doi: 10.1038/s41419-019-1897-2

PMCID:: PMC6746770

Abstract Article PDF–2.2M

Select item 67353629.

GPR124 facilitates pericyte polarization and migration by regulating the formation of filopodia during ischemic injury

Dan-Yang Chen, Ning-He Sun, Ya-Ping Lu, Ling-Juan Hong, Tian-Tian Cui, Cheng-Kun Wang, Xing-Hui Chen, Shuai-Shuai Wang, Li-Li Feng, Wei-Xing Shi, Kohji Fukunaga, Zhong Chen, Ying-Mei Lu, Feng Han

Theranostics. 2019; 9(20): 5937–5955. Published online 2019 Aug 14. doi: 10.7150/thno.34168

PMCID:: PMC6735362

Abstract Article PDF–16M

Select item 672739110.

A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj

Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1

PMCID:: PMC6727391

Abstract Article PDF–1.7M

Select item 671226911.

肺癌组织中DNA聚合酶β基因突变的研究

吴青峻, 田文鑫, 于瀚博, 黄川, 焦鹏, 马超, 王永忠, 黄文, 孙耀光, 艾斌, 佟宏峰

Zhongguo Fei Ai Za Zhi. 2019 Jul 20; 22(7): 427–432. Chinese. doi: 10.3779/j.issn.1009-3419.2019.07.04

PMCID:: PMC6712269

Abstract Article PDF–2.0M

Select item 670815712.

Diversity of ATM gene variants: a population-based genome data analysis for precision medicine

Hisanori Fukunaga, Yasuyuki Taki, Kevin M. Prise

Hum Genomics. 2019; 13: 38. Published online 2019 Aug 23. doi: 10.1186/s40246-019-0234-2

PMCID:: PMC6708157

Abstract Article PDF–616K

Select item 666070013.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 663760614.

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y

PMCID:: PMC6637606

Abstract Article PDF–775K

Select item 662539715.

Characteristics of olfactory ensheathing cells and microarray analysis in Tupaia belangeri (Wagner, 1841)

Na Lin, Xiu-Juan Dong, Ting-Yong Wang, Wen-Ji He, Jing Wei, Hai-Ying Wu, Ting-Hua Wang

Mol Med Rep. 2019 Aug; 20(2): 1819–1825. Published online 2019 Jun 25. doi: 10.3892/mmr.2019.10422

PMCID:: PMC6625397

Abstract Article PDF–425K

Select item 662503016.

TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells

Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim

Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5

PMCID:: PMC6625030

Abstract Article PDF–2.1M

Select item 653220817.

Transcriptional consequences of impaired immune cell responses induced by cystic fibrosis plasma characterized via dual RNA sequencing

Justin E. Ideozu, Vittobai Rangaraj, Hiam Abdala-Valencia, Xi Zhang, Manoj Kandpal, Marc A. Sala, Ramana V. Davuluri, Hara Levy

BMC Med Genomics. 2019; 12: 66. Published online 2019 May 22. doi: 10.1186/s12920-019-0529-0

PMCID:: PMC6532208

Abstract Article PDF–2.7M

Select item 646565718.

Integrated bioinformatics analysis of key genes involved in progress of colon cancer

Haojie Yang, Jiong Wu, Jingjing Zhang, Zhigang Yang, Wei Jin, Ying Li, Lei Jin, Lu Yin, Hua Liu, Zhenyi Wang

Mol Genet Genomic Med. 2019 Apr; 7(4): e00588. Published online 2019 Feb 11. doi: 10.1002/mgg3.588

PMCID:: PMC6465657

Abstract Article PDF–1017K

Select item 645279919.

Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study

Mengqi Li, Weihan Wang, Lin Zhang, Wenqiang Xin, Yan Zhao, Linchun Huan, Jianjun Yu, Hao Zhang, Jianning Zhang, Shuyuan Yang, Degang Liang, Weidong Yang, Xinyu Yang

Neuropsychiatr Dis Treat. 2019; 15: 779–783. Published online 2019 Apr 2. doi: 10.2147/NDT.S193478

Correction in:: Neuropsychiatr Dis Treat. 2019; 15: 2291.

PMCID:: PMC6452799

Abstract Article PDF–199K

Select item 644389520.

Expanding the Arsenal of FGFR Inhibitors: A Novel Chloroacetamide Derivative as a New Irreversible Agent With Anti-proliferative Activity Against FGFR1-Amplified Lung Cancer Cell Lines

Claudia Fumarola, Nicole Bozza, Riccardo Castelli, Francesca Ferlenghi, Giuseppe Marseglia, Alessio Lodola, Mara Bonelli, Silvia La Monica, Daniele Cretella, Roberta Alfieri, Roberta Minari, Maricla Galetti, Marcello Tiseo, Andrea Ardizzoni, Marco Mor, Pier Giorgio Petronini

Front Oncol. 2019; 9: 179. Published online 2019 Mar 26. doi: 10.3389/fonc.2019.00179