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Items: 1 to 20 of 127

1.
Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang
Mol Genet Genomic Med. 2020 Mar; 8(3): e1146. Published online 2020 Jan 20. doi: 10.1002/mgg3.1146
PMCID:
PMC7057090
AbstractArticlePDF–890K
2.
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
Mol Genet Genomic Med. 2020 Mar; 8(3): e1137. Published online 2020 Jan 20. doi: 10.1002/mgg3.1137
PMCID:
PMC7057087
AbstractArticlePDF–3.4M
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.
HIF1α/TET1 Pathway Mediates Hypoxia-Induced Adipocytokine Promoter Hypomethylation in Human Adipocytes
Mohamed M. Ali, Shane A. Phillips, Abeer M. Mahmoud
Cells. 2020 Jan; 9(1): 134. Published online 2020 Jan 6. doi: 10.3390/cells9010134
PMCID:
PMC7016890
AbstractArticlePDF–2.2M
5.
Epigenetic induction of tumor stemness via the lipopolysaccharide-TET3-HOXB2 signaling axis in esophageal squamous cell carcinoma
Fengkai Xu, Zhonghe Liu, Ronghua Liu, Chunlai Lu, Lin Wang, Wei Mao, Qiaoliang Zhu, Huankai Shou, Kunpeng Zhang, Yin Li, Yiwei Chu, Jie Gu, Di Ge
Cell Commun Signal. 2020; 18: 17. Published online 2020 Feb 3. doi: 10.1186/s12964-020-0510-8
PMCID:
PMC6998358
AbstractArticlePDF–7.8M
6.
Improved simultaneous co-fermentation of glucose and xylose by Saccharomyces cerevisiae for efficient lignocellulosic biorefinery
Phuong Hoang Nguyen Tran, Ja Kyong Ko, Gyeongtaek Gong, Youngsoon Um, Sun-Mi Lee
Biotechnol Biofuels. 2020; 13: 12. Published online 2020 Jan 22. doi: 10.1186/s13068-019-1641-2
PMCID:
PMC6975041
AbstractArticlePDF–1.3M
7.
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy
Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu
J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375
PMCID:
PMC6816849
AbstractArticlePDF–523K
8.
Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations
Emily R. Mason, Fenfen Wu, Reesha R. Patel, Yucheng Xiao, Stephen C. Cannon, Theodore R. Cummins
eNeuro. 2019 Sep-Oct; 6(5): ENEURO.0141-19.2019. Prepublished online 2019 Sep 26. Published online 2019 Oct 15. doi: 10.1523/ENEURO.0141-19.2019
PMCID:
PMC6795554
AbstractArticlePDF–2.3M
9.
FUNCTIONAL POLYMORPHISMS IN NRF2: IMPLICATIONS FOR HUMAN DISEASE
Hye-Youn Cho, Jacqui Marzec, Steven R. Kleeberger
Free Radic Biol Med. Author manuscript; available in PMC 2019 Oct 7.
Published in final edited form as: Free Radic Biol Med. 2015 Nov; 88(Pt B): 362–372. Published online 2015 Jun 25. doi: 10.1016/j.freeradbiomed.2015.06.012
PMCID:
PMC6779133
AbstractArticlePDF–1.0M
10.
Myocyte enhancer factor‐2 and p300 interact to regulate the expression of homeostatic regulator Pumilio in Drosophila
Wei‐Hsiang Lin, Richard A. Baines
Eur J Neurosci. 2019 Jul; 50(1): 1727–1740. Published online 2019 Feb 21. doi: 10.1111/ejn.14357
PMCID:
PMC6767705
AbstractArticlePDF–758K
11.
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life
Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim
Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988
PMCID:
PMC6753218
AbstractArticlePDF–761K
12.
Early Expression of Sodium Channel Transcripts and Sodium Current by Cajal-Retzius Cells in the Preplate of the Embryonic Mouse Neocortex
Mireille Albrieux, Jean-Claude Platel, Alain Dupuis, Michel Villaz, William J. Moody
J Neurosci. 2004 Feb 18; 24(7): 1719–1725. doi: 10.1523/JNEUROSCI.3548-02.2004
PMCID:
PMC6730446
AbstractArticlePDF–306K
13.
A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline
Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara, Emi Mazaki, Nami Okamura, Mauricio Montal, Naomasa Makita, Masaki Tanaka, Katsuyuki Fukushima, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakawa
J Neurosci. 2004 Mar 17; 24(11): 2690–2698. doi: 10.1523/JNEUROSCI.3089-03.2004
PMCID:
PMC6729532
AbstractArticlePDF–416K
14.
Bta-miR-10b Secreted by Bovine Embryos Negatively Impacts Preimplantation Embryo Quality
Xiaoyuan Lin, Krishna Chaitanya Pavani, Katrien Smits, Dieter Deforce, Björn Heindryckx, Ann Van Soom, Luc Peelman
Front Genet. 2019; 10: 757. Published online 2019 Aug 22. doi: 10.3389/fgene.2019.00757
PMCID:
PMC6713719
AbstractArticlePDF–2.1M
15.
Comparison of oxcarbazepine efficacy and MHD concentrations relative to age and BMI: Associations among ABCB1, ABCC2, UGT2B7, and SCN2A polymorphisms
Xue Yang, Yuanliang Yan, Shu Fang, Shuangshuang Zeng, Hongying Ma, Long Qian, Xi Chen, Jie Wei, Zhicheng Gong, Zhijie Xu
Medicine (Baltimore) 2019 Mar; 98(12): e14908. Published online 2019 Mar 22. doi: 10.1097/MD.0000000000014908
PMCID:
PMC6708905
AbstractArticlePDF–641K
16.
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani
J Med Case Rep. 2019; 13: 266. Published online 2019 Aug 23. doi: 10.1186/s13256-019-2203-8
PMCID:
PMC6706917
AbstractArticlePDF–521K
17.
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
18.
The association between interleukin‐1 polymorphisms and their protein expression in Chinese Han patients with breast cancer
Juan Wang, Yonggang Shi, Gaochao Wang, Shiliang Dong, Daoke Yang, Xiaoxiao Zuo
Mol Genet Genomic Med. 2019 Aug; 7(8): e804. Published online 2019 Jul 11. doi: 10.1002/mgg3.804
PMCID:
PMC6687616
AbstractArticlePDF–315K
19.
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
20.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
Aaron R. Jeffries, Reza Maroofian, Claire G. Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah J.G. Mackay, Faisal I. Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple
Genome Res. 2019 Jul; 29(7): 1057–1066. doi: 10.1101/gr.243584.118
PMCID:
PMC6633263
AbstractArticlePDF–888K

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