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Select item 70570901.

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

Abstract Article PDF–890K

Select item 70570872.

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

Abstract Article PDF–3.4M

Select item 70271953.

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

Abstract Article PDF–1.2M

Select item 70168904.

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

Abstract Article PDF–2.2M

Select item 69983585.

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

Abstract Article PDF–7.8M

Select item 69294046.

BIN1 rs744373 variant shows different association with Alzheimer’s disease in Caucasian and Asian populations

Zhifa Han, Tao Wang, Rui Tian, Wenyang Zhou, Pingping Wang, Peng Ren, Jian Zong, Yang Hu, Shuilin Jin, Qinghua Jiang

BMC Bioinformatics. 2019; 20(Suppl 25): 691. Published online 2019 Dec 24. doi: 10.1186/s12859-019-3264-9

PMCID:: PMC6929404

Abstract Article PDF–1.6M

Select item 68168497.

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

Abstract Article PDF–523K

Select item 67791338.

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

Abstract Article PDF–1.0M

Select item 67780659.

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr³⁴⁸ phosphorylation

Maxime Sartori, Tiago Mendes, Shruti Desai, Alessia Lasorsa, Adrien Herledan, Nicolas Malmanche, Petra Mäkinen, Mikael Marttinen, Idir Malki, Julien Chapuis, Amandine Flaig, Anaïs-Camille Vreulx, Marion Ciancia, Philippe Amouyel, Florence Leroux, Benoit Déprez, François-Xavier Cantrelle, Damien Maréchal, Laurent Pradier, Mikko Hiltunen, Isabelle Landrieu, Devrim Kilinc, Yann Herault, Jocelyn Laporte, Jean-Charles Lambert

Acta Neuropathol. 2019; 138(4): 631–652. Published online 2019 May 7. doi: 10.1007/s00401-019-02017-9

PMCID:: PMC6778065

Abstract Article PDF–14M

Select item 676770510.

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

Abstract Article PDF–758K

Select item 672041911.

CDK5 neutralizes the tumor suppressing effect of BIN1 via mediating phosphorylation of c-MYC at Ser-62 site in NSCLC

Xiangyu Zhang, Jiali Wang, Yunlong Jia, Tianxu Liu, Mengjie Wang, Wei Lv, Rong Zhang, Juan Shi, Lihua Liu

Cancer Cell Int. 2019; 19: 226. Published online 2019 Sep 2. doi: 10.1186/s12935-019-0952-5

PMCID:: PMC6720419

Abstract Article PDF–2.7M

Select item 671371912.

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

Abstract Article PDF–2.1M

Select item 670268713.

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

Abstract Article PDF–1.3M

Select item 669413214.

HENA, heterogeneous network-based data set for Alzheimer’s disease

Elena Sügis, Jerome Dauvillier, Anna Leontjeva, Priit Adler, Valerie Hindie, Thomas Moncion, Vincent Collura, Rachel Daudin, Yann Loe-Mie, Yann Herault, Jean-Charles Lambert, Henning Hermjakob, Tal Pupko, Jean-Christophe Rain, Ioannis Xenarios, Jaak Vilo, Michel Simonneau, Hedi Peterson

Sci Data. 2019; 6: 151. Published online 2019 Aug 14. doi: 10.1038/s41597-019-0152-0

PMCID:: PMC6694132

Abstract Article PDF–2.8M

Select item 668761615.

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

Abstract Article PDF–315K

Select item 663326316.

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

Abstract Article PDF–888K

Select item 662508817.

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

Abstract Article PDF–899K

Select item 662503018.

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

Abstract Article PDF–2.1M

Select item 658560519.

microRNA‐211 promotes proliferation, migration, and invasion ability of oral squamous cell carcinoma cells via targeting the bridging integrator 1 protein

Jiabao Zheng, Jiali Wang, Yunlong Jia, Tianxu Liu, Yuqing Duan, Xing Liang, Lihua Liu

J Cell Biochem. 2019 Mar; 120(3): 4644–4653. Published online 2018 Sep 27. doi: 10.1002/jcb.27753

PMCID:: PMC6585605

Abstract Article PDF–863K

Select item 650316920.

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

Abstract Article PDF–490K

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