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Items: 1 to 20 of 38

1.
Genetic and Functional Variants Analysis of the GATA6 Gene Promoter in Acute Myocardial Infarction
Zhaoqing Sun, Shuchao Pang, Yinghua Cui, Bo Yan
Front Genet. 2019; 10: 1100. Published online 2019 Nov 6. doi: 10.3389/fgene.2019.01100
PMCID:
PMC6851265
AbstractArticlePDF–2.7M
2.
Identification of two novel GATA6 mutations in an adult with acute myocardial infarction, diabetes, and atrial fibrillation: a case report
Zhao-Qing Sun, Ying-Hua Cui, Bo Yan
J Geriatr Cardiol. 2019 Oct; 16(10): 785–788. doi: 10.11909/j.issn.1671-5411.2019.10.009
PMCID:
PMC6828608
ArticlePDF–516K
3.
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
AbstractArticlePDF–2.1M
4.
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China
Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen
Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574
PMCID:
PMC6503013
AbstractArticlePDF–1.2M
5.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D Gurzau, Agnieszka Nowak, Christopher T Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaelle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M Murphy, Jérôme Déjardin, Marnie E Blewitt, Bruno Reversade, Jérôme D Robin, Frédérique Magdinier
Nucleic Acids Res. 2019 Apr 8; 47(6): 2822–2839. Published online 2019 Jan 30. doi: 10.1093/nar/gkz005
PMCID:
PMC6451109
AbstractArticlePDF–8.0M
6.
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients
Luize Bidina, Kaspars Kupics, Emma Sokolova, Mihails Pavlovics, Zane Dobele, Laima Caunite, Oskars Kalejs, Linda Gailite
Anatol J Cardiol. 2018 Nov; 20(5): 296–302. Published online 2018 Oct 26. doi: 10.14744/AnatolJCardiol.2018.35984
PMCID:
PMC6280287
AbstractArticlePDF–101K
7.
EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis
Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang
Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0
Correction in:
Mol Cancer. 2020; 19: 153.
PMCID:
PMC6260852
AbstractArticlePDF–7.1M
8.
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4
Mitsuru Sasaki-Honda, Tatsuya Jonouchi, Meni Arai, Akitsu Hotta, Satomi Mitsuhashi, Ichizo Nishino, Ryoichi Matsuda, Hidetoshi Sakurai
Hum Mol Genet. 2018 Dec 1; 27(23): 4024–4035. Published online 2018 Aug 9. doi: 10.1093/hmg/ddy293
PMCID:
PMC6240734
AbstractArticlePDF–18M
9.
Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma
Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren
Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.
PMCID:
PMC6176177
AbstractArticlePDF–2.0M
10.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Richard J L F Lemmers, Patrick J van der Vliet, Jeroen P Vreijling, Don Henderson, Nienke van der Stoep, Nicol Voermans, Baziel van Engelen, Frank Baas, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
Hum Mol Genet. 2018 Oct 15; 27(20): 3488–3497. Published online 2018 Jun 22. doi: 10.1093/hmg/ddy236
PMCID:
PMC6168970
AbstractArticlePDF–1.0M
11.
Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature
Carmel J. W. Stock, Elisabetta A. Renzoni
Eur J Hum Genet. 2018 Jun; 26(6): 765–777. Published online 2018 Feb 23. doi: 10.1038/s41431-018-0104-8
PMCID:
PMC5974020
AbstractArticlePDF–531K
12.
Genetic Determinants of Antibody Levels in Cerebrospinal Fluid in Multiple Sclerosis: Possible Links to Endogenous Retroviruses
Alexander Emmer, Christine Brütting, Malte Kornhuber, Martin S. Staege
Int J Mol Sci. 2018 Mar; 19(3): 786. Published online 2018 Mar 9. doi: 10.3390/ijms19030786
PMCID:
PMC5877647
AbstractArticlePDF–2.3M
13.
MicroRNA-148b inhibits proliferation and the epithelial-mesenchymal transition and increases radiosensitivity in non-small cell lung carcinomas by regulating ROCK1
Haitao Luo, Caixia Liang
Exp Ther Med. 2018 Apr; 15(4): 3609–3616. Published online 2018 Feb 7. doi: 10.3892/etm.2018.5845
PMCID:
PMC5840962
AbstractArticlePDF–1017K
14.
Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma
Shinpei Ogino, Hirotaka Konishi, Daisuke Ichikawa, Junichi Hamada, Katsutoshi Shoda, Tomohiro Arita, Shuhei Komatsu, Atsushi Shiozaki, Kazuma Okamoto, Sanae Yamazaki, Satoru Yasukawa, Eiichi Konishi, Eigo Otsuji
World J Gastroenterol. 2018 Feb 28; 24(8): 949–956. Published online 2018 Feb 28. doi: 10.3748/wjg.v24.i8.949
PMCID:
PMC5829158
AbstractArticlePDF–1.3M
15.
INSIG2 rs7566605 single nucleotide variant and global DNA methylation index levels are associated with weight loss in a personalized weight reduction program
Francesca Pirini, Sebastian Rodriguez-Torres, Bola Grace Ayandibu, María Orera-Clemente, Alberto Gonzalez-De La Vega, Fahcina Lawson, Roland J. Thorpe Jr, David Sidransky, Rafael Guerrero-Preston
Mol Med Rep. 2018 Jan; 17(1): 1699–1709. Published online 2017 Nov 14. doi: 10.3892/mmr.2017.8039
PMCID:
PMC5780113
AbstractArticlePDF–1022K
16.
Gene screening facilitates diagnosis of complicated symptoms: A case report
Hong Duan, Di Zhang, Jing Cheng, Yu Lu, Huijun Yuan
Mol Med Rep. 2017 Dec; 16(6): 7915–7922. Published online 2017 Sep 22. doi: 10.3892/mmr.2017.7590
PMCID:
PMC5779872
AbstractArticlePDF–1023K
17.
The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica
Qing-Song Wang, Hong-Qiong Xiao, Hua-Xian Chen, Yan-Ping Liu, Xu-Dong Ding
Exp Ther Med. 2017 Dec; 14(6): 6017–6021. Published online 2017 Oct 6. doi: 10.3892/etm.2017.5267
PMCID:
PMC5740579
AbstractArticlePDF–301K
18.
The pharmacogenomics of severe traumatic brain injury
Solomon M Adams, Yvette P Conley, Amy K Wagner, Ruchira M Jha, Robert SB Clark, Samuel M Poloyac, Patrick M Kochanek, Philip E Empey
Pharmacogenomics. 2017 Oct; 18(15): 1413–1425. Published online 2017 Oct 4. doi: 10.2217/pgs-2017-0073
PMCID:
PMC5694019
AbstractArticlePDF–725K
19.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Jr, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Jr, Erica E Davis, David R FitzPatrick, Michael E Talkowski
Nat Genet. Author manuscript; available in PMC 2017 Jun 16.
Published in final edited form as: Nat Genet. 2017 Feb; 49(2): 238–248. Published online 2017 Jan 9. doi: 10.1038/ng.3743
Correction in:
Nat Genet. 2017 May 26; 49(6): 969.
PMCID:
PMC5473428
AbstractArticlePDF–1019K
20.
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa
Daniel R. Jacobson, Alice A. Alexander, Clement Tagoe, W. T. Garvey, Scott M. Williams, Sara Tishkoff, David Modiano, Sodiomon B. Sirima, Issa Kalidi, Amadou Toure, Joel N. Buxbaum
Mol Genet Genomic Med. 2016 Sep; 4(5): 548–556. Published online 2016 Jul 14. doi: 10.1002/mgg3.231
PMCID:
PMC5023940
AbstractArticlePDF–431K

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