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Items: 1 to 20 of 124

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.
Next-Generation Sequencing Panel Analysis of Clinically Relevant Mutations in Circulating Cell-Free DNA from Patients with Gestational Trophoblastic Neoplasia: A Pilot Study
Lingxiao Luo, Ling Lin, Xiaoyan Zhang, Qingqing Cai, Hongbo Zhao, Congjian Xu, Qing Cong
Biomed Res Int. 2020; 2020: 1314967. Published online 2020 Jan 2. doi: 10.1155/2020/1314967
PMCID:
PMC6970497
AbstractArticlePDF–539K
7.
Divergent clonal evolution of a common precursor to mantle cell lymphoma and classic Hodgkin lymphoma
Hammad Tashkandi, Kseniya Petrova-Drus, Connie Lee Batlevi, Maria E. Arcila, Mikhail Roshal, Filiz Sen, Jinjuan Yao, Jeeyeon Baik, Ashley Bilger, Jessica Singh, Stephanie de Frank, Anita Kumar, Ruth Aryeequaye, Yanming Zhang, Ahmet Dogan, Wenbin Xiao
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004259. doi: 10.1101/mcs.a004259
PMCID:
PMC6913152
AbstractArticlePDF–4.6M
8.
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
9.
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
10.
The metabolic sensor PASK is a histone 3 kinase that also regulates H3K4 methylation by associating with H3K4 MLL2 methyltransferase complex
Jimsheena V Karakkat, Suneesh Kaimala, Sreejisha P Sreedharan, Princy Jayaprakash, Ernest A Adeghate, Suraiya A Ansari, Ernesto Guccione, Eric P K Mensah-Brown, Bright Starling Emerald
Nucleic Acids Res. 2019 Nov 4; 47(19): 10086–10103. Published online 2019 Sep 16. doi: 10.1093/nar/gkz786
PMCID:
PMC6821284
AbstractArticlePDF–15M
11.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa, Elisa Biamino, Maria Piccione, Stefano Sotgiu, Chiara Perrìa, Giuseppina Vitiello, Marina Frontali, Antonella Boni, Elisabetta Di Fede, Maria Chiara Gandini, Elisa Adele Colombo, Michael J. Bamshad, Deborah A. Nickerson, Joshua D. Smith, Italia Loddo, Palma Finelli, Marco Seri, Tommaso Pippucci, Lidia Larizza, Cristina Gervasini
Hum Genet. Author manuscript; available in PMC 2019 Sep 10.
Published in final edited form as: Hum Genet. 2019 Mar; 138(3): 257–269. Published online 2019 Feb 26. doi: 10.1007/s00439-019-01985-y
PMCID:
PMC6736609
AbstractArticlePDF–491K
12.
Von Hippel-Lindau “Black Forest” mutation inherited in a large Chinese family
Peihua Liu, Feizhou Zhu, Minghao Li, Daud Athanasius Dube, Qianqian Liu, Cikui Wang, Qiao Xiao, Liang Zhang, Shuai Gao, Zhuolin Li, Bo Zhang, Jing Liu, Longfei Liu, Xiang Chen
Gland Surg. 2019 Aug; 8(4): 343–353. doi: 10.21037/gs.2019.08.03
PMCID:
PMC6723002
AbstractArticlePDF–3.4M
13.
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
Kwong Wai Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau, Ye Cao, Olivia Y.M. Chan, Yvonne K. Kwok, Yuanfang Zhu, Min Chen, Tak Yeung Leung, Zirui Dong
Front Genet. 2019; 10: 761. Published online 2019 Aug 16. doi: 10.3389/fgene.2019.00761
PMCID:
PMC6706460
AbstractArticlePDF–2.0M
14.
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
15.
Genetic variants and clinical significance of pediatric acute lymphoblastic leukemia
Hong-Hong Zhang, Hong-Sheng Wang, Xiao-Wen Qian, Cui-Qing Fan, Jun Li, Hui Miao, Xiao-Hua Zhu, Yi Yu, Jian-Hua Meng, Ping Cao, Jun Le, Jun-Ye Jiang, Wen-Jing Jiang, Ping Wang, Xiao-Wen Zhai
Ann Transl Med. 2019 Jul; 7(14): 296. doi: 10.21037/atm.2019.04.80
PMCID:
PMC6694231
AbstractArticlePDF–1.1M
16.
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
17.
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
18.
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
19.
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
20.
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

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