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Items: 1 to 20 of 103

1.
High Mobility Group A (HMGA): Chromatin Nodes Controlled by a Knotty miRNA Network
Riccardo Sgarra, Silvia Pegoraro, Daniela D’Angelo, Gloria Ros, Rossella Zanin, Michela Sgubin, Sara Petrosino, Sabrina Battista, Guidalberto Manfioletti
Int J Mol Sci. 2020 Feb; 21(3): 717. Published online 2020 Jan 22. doi: 10.3390/ijms21030717
PMCID:
PMC7038092
AbstractArticlePDF–2.5M
2.
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
AbstractArticlePDF–1.2M
3.
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia
Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang
Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811
PMCID:
PMC7019135
AbstractArticlePDF–1.6M
4.
A Look at Genetic Linkage between Clozapine-induced Agranulocytosis, Malignant Hyperthermia, Neuroleptic Malignant Syndrome, and Statin-induced Myopathy
Nitin Pothen, Shveta Kansal, Theodor Rais, Stacy Doumas, Ramon Solhkhah
Innov Clin Neurosci. 2019 Nov 1; 16(11-12): 28–31. Published online Nov-Dec 2019.
PMCID:
PMC7006864
AbstractArticlePDF–127K
5.
Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro
Mol Genet Genomic Med. 2020 Jan; 8(1): e1057. Published online 2019 Dec 12. doi: 10.1002/mgg3.1057
PMCID:
PMC6978229
AbstractArticlePDF–761K
6.
Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation
Rosa Anita Fernandes, Martin Perez-Andres, Elena Blanco, Maria Jara-Acevedo, Ignacio Criado, Julia Almeida, Vitor Botafogo, Ines Coutinho, Artur Paiva, Jacques J. M. van Dongen, Alberto Orfao, Emilia Faria
Front Immunol. 2019; 10: 2502. Published online 2019 Nov 8. doi: 10.3389/fimmu.2019.02502
PMCID:
PMC6856949
AbstractArticlePDF–1.7M
7.
IL-6 Impairs the Activity of Vitamin D3 in the Regulation of Epithelial-Mesenchymal Transition in Triple Negative Breast Cancer
Mohamed A. Abdel-Mohsen, Samar. M Abo-Deif, Lobna A. Abou-Shamaa
Asian Pac J Cancer Prev. 2019; 20(8): 2267–2273. doi: 10.31557/APJCP.2019.20.8.2267
PMCID:
PMC6852800
AbstractArticlePDF–780K
8.
Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity
María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez
Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17
PMCID:
PMC6702687
AbstractArticlePDF–1.3M
9.
Relationship between ALDH2 genotype and in-stent restenosis in Chinese Han patients after percutaneous coronary intervention
Lizhi Lv, Weijie Ye, Peiyuan Song, Yubin Chen, Jing Yang, Congmin Zhang, Xiaoping Chen, Fanyan Luo
BMC Cardiovasc Disord. 2019; 19: 176. Published online 2019 Jul 25. doi: 10.1186/s12872-019-1161-9
PMCID:
PMC6659264
AbstractArticlePDF–1.3M
10.
Loss of function mutation in the P2X7, a ligand-gated ion channel gene associated with hypertrophic cardiomyopathy
Amitabh Biswas, Ali Raza, Soumi Das, Mitali Kapoor, Rijith Jayarajan, Ankit Verma, Karuthedath Vellarikkal Shamsudheen, Benrithung Murry, Sandeep Seth, Balram Bhargava, Vinod Scaria, Sridhar Sivasubbu, Vadlamudi Raghavendra Rao
Purinergic Signal. 2019 Jun; 15(2): 205–210. Published online 2019 May 31. doi: 10.1007/s11302-019-09660-7
PMCID:
PMC6635509
AbstractArticlePDF–2.1M
11.
Evaluation of Methods for the Extraction of Microbial DNA From Vaginal Swabs Used for Microbiome Studies
Valentina Mattei, Selvasankar Murugesan, Muna Al Hashmi, Rebecca Mathew, Nicola James, Parul Singh, Manoj Kumar, Arun Prasath Lakshmanan, Annalisa Terranegra, Souhaila Al Khodor, Sara Tomei
Front Cell Infect Microbiol. 2019; 9: 197. Published online 2019 Jun 6. doi: 10.3389/fcimb.2019.00197
PMCID:
PMC6563847
AbstractArticlePDF–1.4M
12.
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Sarah E. Brnich, Edgar A. Rivera-Muñoz, Jonathan S. Berg
Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1531–1541. Published online 2018 Sep 5. doi: 10.1002/humu.23609
PMCID:
PMC6548460
AbstractArticlePDF–1.8M
13.
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
14.
Role of gene promoter methylation regulated by TETs and DNMTs in the overexpression of HLA-G in MCF-7 cells
Daoyu Zhang, Xinglan An, Ziyi Li, Sheng Zhang
Exp Ther Med. 2019 Jun; 17(6): 4709–4714. Published online 2019 Apr 11. doi: 10.3892/etm.2019.7481
PMCID:
PMC6489065
AbstractArticlePDF–611K
15.
Effect of the thymine‐DNA glycosylase rs4135050 variant on Saudi smoker population
Mikhlid Almutairi, Abdullah Mohammad Alhadeq, Rafa Almeer, Mohammed Almutairi, Mohammed Alzahrani, Abdelhabib Semlali
Mol Genet Genomic Med. 2019 Apr; 7(4): e00590. Published online 2019 Feb 18. doi: 10.1002/mgg3.590
PMCID:
PMC6465727
AbstractArticlePDF–831K
16.
Lysine-specific demethylase 2A enhances binding of various nuclear factors to CpG-rich genomic DNAs by action of its CXXC-PHD domain
Shiro Iuchi, Joao A. Paulo
Sci Rep. 2019; 9: 5496. Published online 2019 Apr 2. doi: 10.1038/s41598-019-41896-6
PMCID:
PMC6445129
AbstractArticlePDF–3.6M
17.
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
Stephanie L. Hines, John E. Richter, Jr, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal, Thomas R. Caulfield
Mol Genet Genomic Med. 2019 Mar; 7(3): e566. Published online 2019 Jan 28. doi: 10.1002/mgg3.566
PMCID:
PMC6418443
AbstractArticlePDF–1.3M
18.
MiR-130a-5p prevents angiotensin II-induced podocyte apoptosis by modulating M-type phospholipase A2 receptor
Dongwei Liu, Fengxun Liu, Xutong Wang, Yingjin Qiao, Shaokang Pan, Yang Yang, Yifang Hu, Yilin Zhang, Fei Tian, Zhangsuo Liu
Cell Cycle. 2018; 17(21-22): 2484–2495. Published online 2018 Nov 23. doi: 10.1080/15384101.2018.1542901
PMCID:
PMC6342077
AbstractArticlePDF–1.9M
19.
Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome
Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang
Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068
PMCID:
PMC6327641
AbstractArticlePDF–3.7M
20.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau
Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007
PMCID:
PMC6323608
AbstractArticlePDF–1.8M

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