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Select item 70380921.

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

Abstract Article PDF–2.5M

Select item 70271952.

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

Abstract Article PDF–1.2M

Select item 70191353.

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

Abstract Article PDF–1.6M

Select item 70068644.

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

Abstract Article PDF–127K

Select item 69957335.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Abstract Article PDF–1.1M

Select item 69782296.

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

Abstract Article PDF–761K

Select item 68569497.

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

Abstract Article PDF–1.7M

Select item 68528008.

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

Abstract Article PDF–780K

Select item 67026879.

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

Abstract Article PDF–1.3M

Select item 665926410.

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

Abstract Article PDF–1.3M

Select item 663550911.

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

Abstract Article PDF–2.1M

Select item 656384712.

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

Abstract Article PDF–1.4M

Select item 654846013.

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

Abstract Article PDF–1.8M

Select item 650301314.

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 648906515.

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

Abstract Article PDF–611K

Select item 647649816.

Arsenite malignantly transforms human prostate epithelial cells in vitro by gene amplification of mutated KRAS

B. Alex Merrick, Dhiral P. Phadke, Meredith A. Bostrom, Ruchir R. Shah, Garron M. Wright, Xinguo Wang, Oksana Gordon, Katherine E. Pelch, Scott S. Auerbach, Richard S. Paules, Michael J. DeVito, Michael P. Waalkes, Erik J. Tokar

PLoS One. 2019; 14(4): e0215504. Published online 2019 Apr 22. doi: 10.1371/journal.pone.0215504

PMCID:: PMC6476498

Abstract Article PDF–2.5M

Select item 646572717.

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

Abstract Article PDF–831K

Select item 644512918.

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

Abstract Article PDF–3.6M

Select item 641844319.

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

Abstract Article PDF–1.3M

Select item 640760520.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O. Hashem, Fajr A. Aleisa, Heba M. Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P. Drew, Mark J. Cowley, Marcel Dinger, Jill A. Rosenfeld, Rui Xiao, Megan T. Cho, Suliat F. Yakubu, Lindsay B. Henderson, Maria J. Guillen Sacoto, Amber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V. Andrews, Marilyn C. Jones, Kristin Lindstrom, Ruth E. Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P. Kirk, Ann Bye, Jasmeen Merzaban, Łukas Jaremko, Mariusz Jaremko, Rani K. Sachdev, Fowzan S. Alkuraya, Stefan T. Arold

Am J Hum Genet. 2019 Mar 7; 104(3): 542–552. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.013

Correction in:: Am J Hum Genet. 2019 Apr 4; 104(4): 778.

PMCID:: PMC6407605

Abstract Article PDF–1.4M

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