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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.
Unique Aberrations in Intimal Sarcoma Identified by Next-Generation Sequencing as Potential Therapy Targets
Jason Roszik, Abir Khan, Anthony P. Conley, J. Andrew Livingston, Roman Groisberg, Vinod Ravi, Roberto Carmagnani Pestana, Shiraj Sen, Vivek Subbiah
Cancers (Basel) 2019 Sep; 11(9): 1283. Published online 2019 Aug 31. doi: 10.3390/cancers11091283
PMCID:
PMC6770224
AbstractArticlePDF–630K
9.
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
10.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2
PMCID:
PMC6660700
AbstractArticlePDF–980K
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer
Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa‐Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe, Tatiana Cajuso, Ulrika A Hänninen, Kimmo Palin, Heikki Ristolainen, Riku Katainen, Eevi Kaasinen, Tomas Tanskanen, Mervi Aavikko, Minna Taipale, Jussi Taipale, Laura Renkonen‐Sinisalo, Anna Lepistö, Selja Koskensalo, Jan Böhm, Jukka‐Pekka Mecklin, Halit Ongen, Emmanouil T Dermitzakis, Outi Kilpivaara, Pia Vahteristo, Mikko Turunen, Sampsa Hautaniemi, Sari Tuupanen, Auli Karhu, Niko Välimäki, Markku Varjosalo, Esa Pitkänen, Lauri A Aaltonen
EMBO Mol Med. 2018 Sep; 10(9): e8552. Published online 2018 Aug 14. doi: 10.15252/emmm.201708552
PMCID:
PMC6402450
AbstractArticlePDF–1.5M

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