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Items: 1 to 20 of 76

1.
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5
PMCID:
PMC7058001
AbstractArticlePDF–1.5M
2.
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi
Mol Genet Genomic Med. 2020 Mar; 8(3): e1128. Published online 2020 Jan 20. doi: 10.1002/mgg3.1128
PMCID:
PMC7057110
AbstractArticlePDF–1.0M
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Comprehensive analysis of syndromic hearing loss patients in Japan
Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami
Sci Rep. 2019; 9: 11976. Published online 2019 Aug 19. doi: 10.1038/s41598-019-47141-4
PMCID:
PMC6700179
AbstractArticlePDF–1017K
9.
Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China
Xiangyin Liu, Qi Xi, Leilei Li, Qiyuan Wang, Yuting Jiang, Hongguo Zhang, Ruizhi Liu, Ruixue Wang
Med Sci Monit. 2019; 25: 5801–5812. Published online 2019 Aug 4. doi: 10.12659/MSM.915375
PMCID:
PMC6691750
AbstractArticlePDF–1.2M
10.
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
11.
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
12.
The SOXE transcription factors—SOX8, SOX9 and SOX10—share a bi-partite transactivation mechanism
Abdul Haseeb, Véronique Lefebvre
Nucleic Acids Res. 2019 Jul 26; 47(13): 6917–6931. Published online 2019 Jun 13. doi: 10.1093/nar/gkz523
PMCID:
PMC6649842
AbstractArticlePDF–5.5M
13.
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
Samuel Andrew Malone, Georgios E Papadakis, Andrea Messina, Nour El Houda Mimouni, Sara Trova, Monica Imbernon, Cecile Allet, Irene Cimino, James Acierno, Daniele Cassatella, Cheng Xu, Richard Quinton, Gabor Szinnai, Pascal Pigny, Lur Alonso-Cotchico, Laura Masgrau, Jean-Didier Maréchal, Vincent Prevot, Nelly Pitteloud, Paolo Giacobini
eLife. 2019; 8: e47198. Published online 2019 Jul 10. doi: 10.7554/eLife.47198
PMCID:
PMC6620045
AbstractArticlePDF–11M
14.
Gene expression alterations of human liver cancer cells following borax exposure
Lun Wu, Ying Wei, Wen-Bo Zhou, You-Shun Zhang, Qin-Hua Chen, Ming-Xing Liu, Zheng-Peng Zhu, Jiao Zhou, Li-Hua Yang, Hong-Mei Wang, Guang-Min Wei, Sheng Wang, Zhi-Gang Tang
Oncol Rep. 2019 Jul; 42(1): 115–130. Published online 2019 May 23. doi: 10.3892/or.2019.7169
PMCID:
PMC6549072
AbstractArticlePDF–852K
15.
TGF-β-induced long non-coding RNA MIR155HG promotes the progression and EMT of laryngeal squamous cell carcinoma by regulating the miR-155-5p/SOX10 axis
Weina Cui, Wenxia Meng, Lei Zhao, Huan Cao, Weiwei Chi, Baoshan Wang
Int J Oncol. 2019 Jun; 54(6): 2005–2018. Published online 2019 Apr 12. doi: 10.3892/ijo.2019.4784
PMCID:
PMC6521927
AbstractArticlePDF–3.9M
16.
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
17.
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
18.
Clinical whole‐exome sequencing results impact medical management
Nancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, Zöe Powis, Julie S. Cohen, Kelly D. Farwell Hagman
Mol Genet Genomic Med. 2018 Nov; 6(6): 1068–1078. Published online 2018 Oct 14. doi: 10.1002/mgg3.484
PMCID:
PMC6305629
AbstractArticlePDF–873K
19.
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
20.
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

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