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Items: 1 to 20 of 112

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
ArticlePDF–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
ArticlePDF–3.4M
3.
Hypoxia Produces Pro-arrhythmic Late Sodium Current in Cardiac Myocytes by SUMOylation of NaV1.5 Channels
Leigh D. Plant, Dazhi Xiong, Jesus Romero, Hui Dai, Steve A.N. Goldstein
Cell Rep. Author manuscript; available in PMC 2020 Mar 4.
Published in final edited form as: Cell Rep. 2020 Feb 18; 30(7): 2225–2236.e4. doi: 10.1016/j.celrep.2020.01.025
PMCID:
PMC7054841
ArticlePDF–1.1M
4.
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
ArticlePDF–1.2M
5.
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
ArticlePDF–2.2M
6.
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
ArticlePDF–7.8M
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
ArticlePDF–523K
8.
Single Nucleotide Polymorphisms of Ubiquitin-Related Genes were Associated with Allograft Fibrosis of Renal Transplant Fibrosis
Zeping Gui, Wencheng Li, Shuang Fei, Miao Guo, Hao Chen, Li Sun, Zhijian Han, Jun Tao, Xiaobin Ju, Haiwei Yang, Ji-Fu Wei, Ruoyun Tan, Min Gu
Ann Transplant. 2019; 24: 553–568. Published online 2019 Oct 4. doi: 10.12659/AOT.917767
PMCID:
PMC6792502
ArticlePDF–489K
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
ArticlePDF–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
ArticlePDF–758K
11.
Expression of SUMO1P3 Compared with SUMO1 is an Independent Predictor of Patient Outcome in Lung Adenocarcinoma
Xiaolan Su, Yang Wan, Linshen Xie, Xiufang Lin, Hongwen Zhao, Xiao Ju, Aiping Fang
Med Sci Monit. 2019; 25: 6691–6701. Published online 2019 Sep 6. doi: 10.12659/MSM.916887
PMCID:
PMC6752103
ArticlePDF–2.3M
12.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
ArticlePDF–1.2M
13.
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
ArticlePDF–2.1M
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
ArticlePDF–1.3M
15.
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
ArticlePDF–315K
16.
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
ArticlePDF–888K
17.
Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
Iris M. de Lange, Wout Weuring, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien de Kovel, Lisette J. J. M. van Gemert, Flip Mulder, Marjan J. A. van Kempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Mol Genet Genomic Med. 2019 Jul; 7(7): e00727. Published online 2019 May 29. doi: 10.1002/mgg3.727
PMCID:
PMC6625088
ArticlePDF–899K
18.
TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells
Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim
Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5
PMCID:
PMC6625030
ArticlePDF–2.1M
19.
SUMOylation of Csk Negatively Modulates its Tumor Suppressor Function
Nan Cui, Tianqi Liu, Yanmin Guo, Jinzhuo Dou, Qianqian Yang, Hailong Zhang, Ran Chen, Yanli Wang, Xian Zhao, Jianxiu Yu, Jian Huang
Neoplasia. 2019 Jul; 21(7): 676–688. Published online 2019 May 21. doi: 10.1016/j.neo.2019.04.010
PMCID:
PMC6531875
ArticlePDF–2.8M
20.
IRS1‐ rs10498210 G/A and CCR5‐59029 A/G polymorphisms in patients with type 2 diabetes in Kurdistan
Fatemeh Keshavarzi, Shadi Golsheh
Mol Genet Genomic Med. 2019 May; 7(5): e631. Published online 2019 Mar 18. doi: 10.1002/mgg3.631
PMCID:
PMC6503169
ArticlePDF–490K

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