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Select item 68573071.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu

BMC Med Genet. 2019; 20: 182. Published online 2019 Nov 14. doi: 10.1186/s12881-019-0919-3

PMCID:: PMC6857307

Abstract Article PDF–773K

Select item 68512652.

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

Abstract Article PDF–2.7M

Select item 68286083.

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

Article PDF–516K

Select item 67687914.

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report

Zakiya AL MOSAWI, Wafa MADAN, Barrak AL MOOSAWI, Sayed AL-WADAEI, Husain NASER, Fuad ALI

Arch Rheumatol. 2019 Sep; 34(3): 352–356. Published online 2019 Apr 22. doi: 10.5606/ArchRheumatol.2019.7267

PMCID:: PMC6768791

Abstract Article PDF–241K

Select item 66250305.

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 65030136.

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

Abstract Article PDF–1.2M

Select item 63656507.

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

David B. Beck, Ivona Aksentijevich

Front Immunol. 2019; 10: 101. Published online 2019 Jan 31. doi: 10.3389/fimmu.2019.00101

PMCID:: PMC6365650

Abstract Article PDF–1.8M

Select item 62802878.

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

Abstract Article PDF–101K

Select item 62608529.

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

Abstract Article PDF–7.1M

Select item 617617710.

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

Abstract Article PDF–2.0M

Select item 597402011.

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

Abstract Article PDF–531K

Select item 587764712.

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

Abstract Article PDF–2.3M

Select item 584096213.

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

Abstract Article PDF–1017K

Select item 582915814.

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

Abstract Article PDF–1.3M

Select item 578011315.

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

Abstract Article PDF–1022K

Select item 574057916.

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

Abstract Article PDF–301K

Select item 569401917.

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

Abstract Article PDF–725K

Select item 502394018.

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