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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 69805716.

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design

Almudena Aguilera-Diaz, Iria Vazquez, Beñat Ariceta, Amagoia Mañú, Zuriñe Blasco-Iturri, Sara Palomino-Echeverría, María José Larrayoz, Ramón García-Sanz, María Isabel Prieto-Conde, María del Carmen Chillón, Ana Alfonso-Pierola, Felipe Prosper, Marta Fernandez-Mercado, María José Calasanz

PLoS One. 2020; 15(1): e0227986. Published online 2020 Jan 24. doi: 10.1371/journal.pone.0227986

PMCID:: PMC6980571

Abstract Article PDF–2.0M

Select item 69488847.

Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand

Phuttirak Yimpak, Adisak Tantiworawit, Thanawat Rattanathammethee, Sirinda Angsuchawan, Sikrai Laowatthanapong, Witoon Tasuya, Kanokkan Bumroongkit

Asian Pac J Cancer Prev. 2019; 20(4): 1215–1221. doi: 10.31557/APJCP.2019.20.4.1215

PMCID:: PMC6948884

Abstract Article PDF–965K

Select item 68802408.

Structures of SF3b1 Reveal a Dynamic Achilles Heel of Spliceosome Assembly: Implications for cancer-associated abnormalities and drug discovery

Debanjana Maji, Alan M. Grossfield, Clara L. Kielkopf

Biochim Biophys Acta Gene Regul Mech. Author manuscript; available in PMC 2019 Nov 27.

Published in final edited form as: Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec; 1862(11-12): 194440. Published online 2019 Nov 9. doi: 10.1016/j.bbagrm.2019.194440

PMCID:: PMC6880240

Abstract Article PDF–2.3M

Select item 68168499.

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 677913310.

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 676770511.

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 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 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

Abstract Article PDF–315K

Select item 663326315.

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 662508816.

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 662503017.

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 659408118.

Integrative Analysis Defines Distinct Prognostic Subgroups of Intrahepatic Cholangiocarcinoma

Benjamin Goeppert, Reka Toth, Stephan Singer, Thomas Albrecht, Daniel B. Lipka, Pavlo Lutsik, David Brocks, Marion Baehr, Oliver Muecke, Yassen Assenov, Lei Gu, Volker Endris, Albrecht Stenzinger, Arianeb Mehrabi, Peter Schirmacher, Christoph Plass, Dieter Weichenhan, Stephanie Roessler

Hepatology. 2019 May; 69(5): 2091–2106. Published online 2019 Feb 28. doi: 10.1002/hep.30493

PMCID:: PMC6594081

Abstract Article PDF–1.0M

Select item 652625419.

SF3B1 mutation predicts unfavorable treatment-free survival in Chinese chronic lymphocytic leukemia patients

Yi Miao, Yi-Xin Zou, Dan-Ling Gu, Hong-Cheng Zhu, Hua-Yuan Zhu, Li Wang, Jin-Hua Liang, Yi Xia, Jia-Zhu Wu, Chun-Lin Shao, Lei Fan, Zhen Zhang, Wei Xu, Jian-Yong Li

Ann Transl Med. 2019 Apr; 7(8): 176. doi: 10.21037/atm.2019.03.63