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Select item 64228851.

Survival prediction of tuberous sclerosis complex gene variant in patients with advanced non-small-cell lung cancer treated with platinum doublet

Jeong-Seon Ryu, Jun Hyeok Lim, Hyun-Jung Kim, Min Jeong Kim, Mi Hwa Park, Jung Soo Kim

Biosci Rep. 2019 Mar 29; 39(3): BSR20181426. Prepublished online 2019 Mar 7. Published online 2019 Mar 19. doi: 10.1042/BSR20181426

PMCID:: PMC6422885

Abstract Article PDF–448K

Select item 27350302.

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

Jingxiang HUANG, Brendan D. MANNING

Biochem J. Author manuscript; available in PMC 2009 Aug 31.

Published in final edited form as: Biochem J. 2008 Jun 1; 412(2): 179–190. doi: 10.1042/BJ20080281

PMCID:: PMC2735030

Abstract Article PDF–1.2M

Select item 24231203.

The TSC1-TSC2 Complex Is Required for Proper Activation of mTOR Complex 2

Jingxiang Huang, Christian C. Dibble, Mika Matsuzaki, Brendan D. Manning

Mol Cell Biol. 2008 Jun; 28(12): 4104–4115. Published online 2008 Apr 14. doi: 10.1128/MCB.00289-08

PMCID:: PMC2423120

Abstract Article PDF–956K

Select item 68684964.

Mutations of R882 change flanking sequence preferences of the DNA methyltransferase DNMT3A and cellular methylation patterns

Max Emperle, Sabrina Adam, Stefan Kunert, Michael Dukatz, Annika Baude, Christoph Plass, Philipp Rathert, Pavel Bashtrykov, Albert Jeltsch

Nucleic Acids Res. 2019 Dec 2; 47(21): 11355–11367. Published online 2019 Oct 17. doi: 10.1093/nar/gkz911

PMCID:: PMC6868496

Abstract Article PDF–3.8M

Select item 68513935.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac

Acta Neuropathol. 2019; 138(6): 885–900. Published online 2019 Aug 23. doi: 10.1007/s00401-019-02061-5

PMCID:: PMC6851393

Abstract Article PDF–2.6M

Select item 68027366.

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

Shanshan Zhao, Zhenghui Li, Muxian Zhang, Lingliang Zhang, Honghua Zheng, Jinhuan Ning, Yanyan Wang, Fengpeng Wang, Xiaobin Zhang, Hexia Gan, Yuanqing Wang, Xian Zhang, Hong Luo, Guojun Bu, Huaxi Xu, Yi Yao, Yun-wu Zhang

Exp Mol Med. 2019 Jul; 51(7): 84. Published online 2019 Jul 23. doi: 10.1038/s12276-019-0277-4

PMCID:: PMC6802736

Abstract Article PDF–1.6M

Select item 63622977.

Synchronized Orchestration of miR-99b and let-7g Positively Regulates Rotavirus Infection by Modulating Autophagy

Urbi Mukhopadhyay, Shampa Chanda, Upayan Patra, Arpita Mukherjee, Santanu Rana, Anupam Mukherjee, Mamta Chawla-Sarkar

Sci Rep. 2019; 9: 1318. Published online 2019 Feb 4. doi: 10.1038/s41598-018-38473-8

PMCID:: PMC6362297

Abstract Article PDF–3.4M

Select item 61259908.

Novel and de novo mutations in pediatric refractory epilepsy

Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Celement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li

Mol Brain. 2018; 11: 48. Published online 2018 Sep 5. doi: 10.1186/s13041-018-0392-5

Correction in:: Mol Brain. 2018; 11: 59.

PMCID:: PMC6125990

Abstract Article PDF–980K

Select item 58439979.

Sequencing of circulating tumor DNA for dynamic monitoring of gene mutations in advanced non-small cell lung cancer

Ruilian Xu, Guolin Zhong, Tanxiao Huang, Wan He, Cheng Kong, Xiaoni Zhang, Ying Wang, Ming Liu, Mingyan Xu, Shifu Chen

Oncol Lett. 2018 Mar; 15(3): 3726–3734. Published online 2018 Jan 16. doi: 10.3892/ol.2018.7808

PMCID:: PMC5843997

Abstract Article PDF–1.5M

Select item 576019610.

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis

Yelena Bykhovskaya, Majid Fardaei, Mariam Lotfy Khaled, Mahmood Nejabat, Ramin Salouti, Hassan Dastsooz, Yutao Liu, Soroor Inaloo, Yaron S. Rabinowitz

Invest Ophthalmol Vis Sci. 2017 Dec; 58(14): 6462–6469. doi: 10.1167/iovs.17-22819

PMCID:: PMC5760196

Abstract Article PDF–404K

Select item 488285711.

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Xinxin Zhang, Dehua Ma, Wei Zou, Yibing Ding, Chengchu Zhu, Haiyan Min, Bin Zhang, Wei Wang, Baofu Chen, Minhua Ye, Minghui Cai, Yanqing Pan, Lei Cao, Yueming Wan, Yu Jin, Qian Gao, Long Yi

Respir Res. 2016; 17: 64. Published online 2016 May 27. doi: 10.1186/s12931-016-0377-9

PMCID:: PMC4882857

Abstract Article PDF–1.6M

Select item 457719712.

Epigenetic silencing of tumor suppressor genes during in vitro Epstein–Barr virus infection

Abhik Saha, Hem C. Jha, Santosh K. Upadhyay, Erle S. Robertson

Proc Natl Acad Sci U S A. 2015 Sep 15; 112(37): E5199–E5207. Published online 2015 Aug 31. doi: 10.1073/pnas.1503806112

PMCID:: PMC4577197

Abstract Article PDF–2.0M

Select item 389662613.

The fermented non-digestible fraction of common bean (Phaseolus vulgaris L.) triggers cell cycle arrest and apoptosis in human colon adenocarcinoma cells

R. K. Cruz-Bravo, R. G. Guevara-González, M. Ramos-Gómez, B. D. Oomah, P. Wiersma, R. Campos-Vega, G. Loarca-Piña

Genes Nutr. 2014 Jan; 9(1): 359. Published online 2013 Nov 27. doi: 10.1007/s12263-013-0359-1

PMCID:: PMC3896626

Abstract Article PDF–527K

Select item 315330314.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Christian P. Schaaf, Aniko Sabo, Yasunari Sakai, Jacy Crosby, Donna Muzny, Alicia Hawes, Lora Lewis, Humeira Akbar, Robin Varghese, Eric Boerwinkle, Richard A. Gibbs, Huda Y. Zoghbi

Hum Mol Genet. 2011 Sep 1; 20(17): 3366–3375. Published online 2011 May 30. doi: 10.1093/hmg/ddr243

PMCID:: PMC3153303

Abstract Article PDF–331K

Select item 305188515.

Evidence for population variation in TSC1 and TSC2 gene expression

Garilyn M Jentarra, Stephen G Rice, Shannon Olfers, David Saffen, Vinodh Narayanan

BMC Med Genet. 2011; 12: 29. Published online 2011 Feb 23. doi: 10.1186/1471-2350-12-29

PMCID:: PMC3051885

Abstract Article PDF–3.9M

Select item 302578616.

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Ans M W van den Ouweland, Peter Elfferich, Bernard A Zonnenberg, Willem F Arts, Tjitske Kleefstra, Mark D Nellist, Jose M Millan, Caroline Withagen-Hermans, Anneke J A Maat-Kievit, Dicky J J Halley

Eur J Hum Genet. 2011 Feb; 19(2): 157–163. Published online 2010 Sep 29. doi: 10.1038/ejhg.2010.156