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Items: 1 to 20 of 31

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.
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Annick Raas-Rothschild, Elon Pras, Michal Berkenstadt
Front Genet. 2019; 10: 425. Published online 2019 Jun 25. doi: 10.3389/fgene.2019.00425
PMCID:
PMC6688107
AbstractArticlePDF–236K
4.
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
5.
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
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.
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
9.
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
Natario L. Couser, Maheer M. Masood, Natasha T. Strande, Ann Katherine M. Foreman, Kristy Crooks, Karen E. Weck, Mei Lu, Kirk C. Wilhelmsen, Myra Roche, James P. Evans, Jonathan S. Berg, Cynthia M. Powell
Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 24.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2176–2181. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37129
PMCID:
PMC6108425
AbstractArticlePDF–1.0M
10.
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
11.
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
12.
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
13.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Jean-Luc Alessandri, Christopher T. Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M. Campeau, Julien Thevenon
Eur J Hum Genet. 2018 Mar; 26(3): 340–349. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0087-x
PMCID:
PMC5839001
AbstractArticlePDF–2.0M
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.
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
17.
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
18.
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, The DDD Study, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Eur J Hum Genet. 2017 Jun; 25(6): 669–679. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.32
PMCID:
PMC5477361
AbstractArticlePDF–2.2M
19.
PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features
Emmanuel K. Teye, Abigail Sido, Ping Xin, Niklas K. Finnberg, Prashanth Gokare, Yuka I. Kawasawa, Anna C. Salzberg, Sara Shimko, Michael Bayerl, W. Christopher Ehmann, David F. Claxton, Witold B. Rybka, Joseph J. Drabick, Hong-Gang Wang, Thomas Abraham, Wafik S. El-Deiry, Robert A. Brodsky, Raymond J. Hohl, Jeffrey J. Pu
Oncotarget. 2017 May 2; 8(18): 29887–29905. Published online 2017 Feb 7. doi: 10.18632/oncotarget.15136
PMCID:
PMC5444711
AbstractArticlePDF–5.9M
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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