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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

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

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

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

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

Article PDF–7.8M

Select item 68168496.

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

Article PDF–523K

Select item 67791337.

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

Article PDF–1.0M

Select item 67728498.

C-Terminal Alternative Splicing Changes the Gating Properties of a Human Spinal Cord Calcium Channel α1A Subunit

Howard S. Krovetz, Thomas D. Helton, Anne L. Crews, William A. Horne

J Neurosci. 2000 Oct 15; 20(20): 7564–7570. doi: 10.1523/JNEUROSCI.20-20-07564.2000

PMCID:: PMC6772849

Article PDF–181K

Select item 67677059.

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

Article PDF–758K

Select item 675887510.

Alternative Splicing of the β₄ Subunit Has α₁ Subunit Subtype-Specific Effects on Ca²⁺ Channel Gating

Thomas D. Helton, William A. Horne

J Neurosci. 2002 Mar 1; 22(5): 1573–1582. doi: 10.1523/JNEUROSCI.22-05-01573.2002

PMCID:: PMC6758875

Article PDF–297K

Select item 675806611.

Alternative Splicing of a β₄ Subunit Proline-Rich Motif Regulates Voltage-Dependent Gating and Toxin Block of Ca_v2.1 Ca²⁺ Channels

Thomas D. Helton, Douglas J. Kojetin, John Cavanagh, William A. Horne

J Neurosci. 2002 Nov 1; 22(21): 9331–9339. doi: 10.1523/JNEUROSCI.22-21-09331.2002

PMCID:: PMC6758066

Article PDF–629K

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

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

Article PDF–1.3M

Select item 668761614.

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

Article PDF–315K

Select item 667516115.

Alternative Splicing of the Voltage-Gated Ca²⁺ Channel β₄ Subunit Creates a Uniquely Folded N-Terminal Protein Binding Domain with Cell-Specific Expression in the Cerebellar Cortex

Andrew C. Vendel, Mark D. Terry, Amelia R. Striegel, Nicole M. Iverson, Valerie Leuranguer, Christopher D. Rithner, Barbara A. Lyons, Gary E. Pickard, Stuart A. Tobet, William A. Horne

J Neurosci. 2006 Mar 8; 26(10): 2635–2644. doi: 10.1523/JNEUROSCI.0067-06.2006

PMCID:: PMC6675161

Article PDF–584K

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

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

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

Article PDF–2.1M

Select item 659684219.

Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca_v2.1 (P/Q-Type) Calcium Channels

Ssu-Ju Fu, Chung-Jiuan Jeng, Chia-Hao Ma, Yi-Jheng Peng, Chi-Ming Lee, Ya-Ching Fang, Yi-Ching Lee, Sung-Chun Tang, Meng-Chun Hu, Chih-Yung Tang

J Neurosci. 2017 Mar 1; 37(9): 2485–2503. doi: 10.1523/JNEUROSCI.3070-16.2017

PMCID:: PMC6596842

Article PDF–6.8M

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

Article PDF–490K

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