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Items: 1 to 20 of 42

1.
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
2.
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining
Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow
Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006
PMCID:
PMC6928627
AbstractArticlePDF–1.9M
3.
Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction
Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan
Hum Genomics. 2019; 13: 56. Published online 2019 Nov 19. doi: 10.1186/s40246-019-0243-1
PMCID:
PMC6862733
AbstractArticlePDF–1.8M
4.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson
Genome Med. 2019; 11: 68. Published online 2019 Nov 7. doi: 10.1186/s13073-019-0675-1
PMCID:
PMC6836550
AbstractArticlePDF–2.5M
5.
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair
Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore
Cancers (Basel) 2019 Oct; 11(10): 1454. Published online 2019 Sep 28. doi: 10.3390/cancers11101454
PMCID:
PMC6826418
AbstractArticlePDF–7.8M
6.
The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population
Yazun Bashir Jarrar, Maria Ghishan
Asian Pac J Cancer Prev. 2019; 20(3): 801–808. doi: 10.31557/APJCP.2019.20.3.801
PMCID:
PMC6825778
AbstractArticlePDF–467K
7.
Bioinformatic Identification of miR-622 Key Target Genes and Experimental Validation of the miR-622-RNF8 Axis in Breast Cancer
Chuanyang Liu, Lu Min, Jingyu Kuang, Chushu Zhu, Xin-Yuan Qiu, Lingyun Zhu
Front Oncol. 2019; 9: 1114. Published online 2019 Oct 23. doi: 10.3389/fonc.2019.01114
PMCID:
PMC6819436
AbstractArticlePDF–2.6M
8.
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
Xiao-Tun Ren, Xiao-Hui Wang, Chang-Hong Ding, Xiang Shen, Hao Zhang, Wei-Hua Zhang, Jiu-Wei Li, Chang-Hong Ren, Fang Fang
Front Genet. 2019; 10: 370. Published online 2019 Apr 25. doi: 10.3389/fgene.2019.00370
PMCID:
PMC6494930
AbstractArticlePDF–4.0M
9.
MicroRNA-92a promotes cell proliferation, migration and survival by directly targeting the tumor suppressor gene NF2 in colorectal and lung cancer cells
Krizelle Mae M. Alcantara, Reynaldo L. Garcia
Oncol Rep. 2019 Apr; 41(4): 2103–2116. Published online 2019 Feb 19. doi: 10.3892/or.2019.7020
PMCID:
PMC6412542
AbstractArticlePDF–2.4M
10.
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
11.
Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss
Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami
Clin Case Rep. 2018 Nov; 6(11): 2111–2116. Published online 2018 Sep 21. doi: 10.1002/ccr3.1800
PMCID:
PMC6230644
AbstractArticlePDF–443K
12.
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
AbstractArticlePDF–2.0M
13.
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease
Nadia L. Mitchell, Katharina N. Russell, Martin P. Wellby, Hollie E. Wicky, Lucia Schoderboeck, Graham K. Barrell, Tracy R. Melzer, Steven J. Gray, Stephanie M. Hughes, David N. Palmer
Mol Ther. 2018 Oct 3; 26(10): 2366–2378. Published online 2018 Jul 17. doi: 10.1016/j.ymthe.2018.07.015
PMCID:
PMC6171082
AbstractArticlePDF–2.6M
14.
An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect
Yasir H. Qureshi, Vivek M. Patel, Diego E. Berman, Milankumar J. Kothiya, Jessica L. Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne J. Jiménez-Velázquez, Scott A. Small, Christiane Reitz
Mol Cell Biol. 2018 Oct 15; 38(20): e00011-18. Prepublished online 2018 Jul 23. Published online 2018 Sep 28. doi: 10.1128/MCB.00011-18
PMCID:
PMC6168984
AbstractArticlePDF–2.6M
15.
CDX2 in colorectal cancer is an independent prognostic factor and regulated by promoter methylation and histone deacetylation in tumors of the serrated pathway
Janina Graule, Kristin Uth, Elia Fischer, Irene Centeno, José A. Galván, Micha Eichmann, Tilman T. Rau, Rupert Langer, Heather Dawson, Ulrich Nitsche, Peter Traeger, Martin D. Berger, Beat Schnüriger, Marion Hädrich, Peter Studer, Daniel Inderbitzin, Alessandro Lugli, Mario P. Tschan, Inti Zlobec
Clin Epigenetics. 2018; 10: 120. Published online 2018 Sep 26. doi: 10.1186/s13148-018-0548-2
PMCID:
PMC6158822
AbstractArticlePDF–2.2M
16.
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
AbstractArticlePDF–531K
17.
High Percentage of Isomeric Human MicroRNA and Their Analytical Challenges
Joseph N. Mwangi, Norman H. L. Chiu
Noncoding RNA. 2016 Dec; 2(4): 13. Published online 2016 Dec 2. doi: 10.3390/ncrna2040013
PMCID:
PMC5831925
AbstractArticlePDF–13M
18.
The non-canonical poly(A) polymerase FAM46C acts as an onco-suppressor in multiple myeloma
Seweryn Mroczek, Justyna Chlebowska, Tomasz M. Kuliński, Olga Gewartowska, Jakub Gruchota, Dominik Cysewski, Vladyslava Liudkovska, Ewa Borsuk, Dominika Nowis, Andrzej Dziembowski
Nat Commun. 2017; 8: 619. Published online 2017 Sep 20. doi: 10.1038/s41467-017-00578-5
PMCID:
PMC5606997
AbstractArticlePDF–2.3M
19.
Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells
Xiaolu Zhang, Erin L. Crawford, Thomas M. Blomquist, Sadik A. Khuder, Jiyoun Yeo, Albert M. Levin, James C. Willey
Physiol Genomics. 2016 Jul 1; 48(7): 537–543. Published online 2016 May 27. doi: 10.1152/physiolgenomics.00021.2016
PMCID:
PMC4967224
AbstractArticle
20.
The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah E. Hunt, Harpreet Singh Riat, Graham R. S. Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham
Genome Biol. 2016; 17: 122. Published online 2016 Jun 6. doi: 10.1186/s13059-016-0974-4
PMCID:
PMC4893825
AbstractArticlePDF–1.2M

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