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Items: 1 to 20 of 69

1.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller
Eur J Hum Genet. 2020 Mar; 28(3): 373–377. Published online 2019 Sep 16. doi: 10.1038/s41431-019-0506-2
PMCID:
PMC7029005
AbstractArticlePDF–487K
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.
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
4.
Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe
Jelena Petrović, Vesna Pešić, Volker M. Lauschke
Eur J Hum Genet. 2020 Jan; 28(1): 88–94. Published online 2019 Jul 29. doi: 10.1038/s41431-019-0480-8
PMCID:
PMC6906321
AbstractArticlePDF–3.6M
5.
Parvalbumin Promoter Methylation Altered in Major Depressive Disorder
Benjamard Thaweethee-Sukjai, Sirijit Suttajit, Samur Thanoi, Caroline F. Dalton, Gavin P. Reynolds, Sutisa Nudmamud-Thanoi
Int J Med Sci. 2019; 16(9): 1207–1214. Published online 2019 Aug 14. doi: 10.7150/ijms.36131
PMCID:
PMC6775273
AbstractArticlePDF–918K
6.
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
7.
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact
Nutan V. Badgujar, Bhoomi V. Tarapara, Franky D. Shah
PLoS One. 2019; 14(8): e0220711. Published online 2019 Aug 9. doi: 10.1371/journal.pone.0220711
PMCID:
PMC6688789
AbstractArticlePDF–1.0M
8.
Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients
Mahmood S. Khazaal, Farqad B. Hamdan, Qasim S. Al‐Mayah
Mol Genet Genomic Med. 2019 Aug; 7(8): e809. Published online 2019 Jun 17. doi: 10.1002/mgg3.809
PMCID:
PMC6687619
AbstractArticlePDF–541K
9.
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
10.
PES1 promotes the occurrence and development of papillary thyroid cancer by upregulating the ERα/ERβ protein ratio
Yi-Bo Qiu, Ling-Yao Liao, Rong Jiang, Man Xu, Lin-Wan Xu, George G. Chen, Zhi-Min Liu
Sci Rep. 2019; 9: 1032. Published online 2019 Jan 31. doi: 10.1038/s41598-018-37648-7
PMCID:
PMC6355968
AbstractArticlePDF–2.0M
11.
V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis
Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang
Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391
PMCID:
PMC6276090
AbstractArticlePDF–1.2M
12.
SWIFOLD: Smith-Waterman implementation on FPGA with OpenCL for long DNA sequences
Enzo Rucci, Carlos Garcia, Guillermo Botella, Armando De Giusti, Marcelo Naiouf, Manuel Prieto-Matias
BMC Syst Biol. 2018; 12(Suppl 5): 96. Published online 2018 Nov 20. doi: 10.1186/s12918-018-0614-6
PMCID:
PMC6245597
AbstractArticlePDF–746K
13.
DNA sequences alignment in multi-GPUs: acceleration and energy payoff
Jesús Pérez-Serrano, Edans Sandes, Alba Cristina Magalhaes Alves de Melo, Manuel Ujaldón
BMC Bioinformatics. 2018; 19(Suppl 14): 421. Published online 2018 Nov 20. doi: 10.1186/s12859-018-2389-6
PMCID:
PMC6245493
AbstractArticlePDF–2.9M
14.
Genetic Polymorphisms and In Silico Mutagenesis Analyses of CYP2C9, CYP2D6, and CYPOR Genes in the Pakistani Population
Shabbir Ahmed, Jie Zhou, Zhan Zhou, Shu-Qing Chen
Genes (Basel) 2018 Oct; 9(10): 514. Published online 2018 Oct 22. doi: 10.3390/genes9100514
PMCID:
PMC6211126
AbstractArticlePDF–3.4M
15.
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
16.
MiRNA-BD: an evidence-based bioinformatics model and software tool for microRNA biomarker discovery
Yuxin Lin, Wentao Wu, Zhandong Sun, Li Shen, Bairong Shen
RNA Biol. 2018; 15(8): 1093–1105. Published online 2018 Sep 17. doi: 10.1080/15476286.2018.1502590
PMCID:
PMC6161673
AbstractArticlePDF–2.4M
17.
Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures
Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Yumiko Hayashi, Katsuhiro Kobayashi, Hirokazu Tsukahara
Clin Pediatr Endocrinol. 2018; 27(3): 159–164. Published online 2018 Jul 31. doi: 10.1297/cpe.27.159
PMCID:
PMC6073064
AbstractArticlePDF–1.7M
18.
New Insights into Behçet's Syndrome Metabolic Reprogramming: Citrate Pathway Dysregulation
Anna Santarsiero, Pietro Leccese, Paolo Convertini, Angela Padula, Paolo Abriola, Salvatore D'Angelo, Faustino Bisaccia, Vittoria Infantino
Mediators Inflamm. 2018; 2018: 1419352. Published online 2018 Jun 28. doi: 10.1155/2018/1419352
PMCID:
PMC6046129
AbstractArticlePDF–1.4M
19.
The mitochondrial citrate carrier, SLC25A1, drives stemness and therapy resistance in non-small cell lung cancer
Harvey R. Fernandez, Shreyas M. Gadre, Mingjun Tan, Garrett T. Graham, Rami Mosaoa, Martin S. Ongkeko, Kyu Ah Kim, Rebecca B. Riggins, Erika Parasido, Iacopo Petrini, Simone Pacini, Amrita Cheema, Rency Varghese, Habtom W Ressom, Yuwen Zhang, Christopher Albanese, Aykut Üren, Mikell Paige, Giuseppe Giaccone, Maria Laura Avantaggiati
Cell Death Differ. 2018 Jul; 25(7): 1239–1258. Published online 2018 Apr 12. doi: 10.1038/s41418-018-0101-z
PMCID:
PMC6030199
AbstractArticlePDF–5.7M
20.
Differentiation-Dependent Regulation of Human Endogenous Retrovirus K Sequences and Neighboring Genes in Germ Cell Tumor Cells
Thomas Mueller, Claudia Hantsch, Ines Volkmer, Martin S. Staege
Front Microbiol. 2018; 9: 1253. Published online 2018 Jun 15. doi: 10.3389/fmicb.2018.01253
PMCID:
PMC6013571
AbstractArticlePDF–2.0M

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