PMC Links for Nucleotide (Select 1653960939) - PMC

Select item 67426461.

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

Abstract Article PDF–1.2M

Select item 57141652.

Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation

Andrew M. Bogorad, Kai Ying Lin, Assen Marintchev

Nucleic Acids Res. 2017 Nov 16; 45(20): 11962–11979. Published online 2017 Sep 25. doi: 10.1093/nar/gkx845

PMCID:: PMC5714165

Abstract Article PDF–6.9M

Select item 47337113.

Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes

Na Chen, Yu-Wu Jiang, Hong-Jun Hao, Ting-Ting Ban, Kai Gao, Zhong-Bin Zhang, Jing-Min Wang, Ye Wu

Chin Med J (Engl) 2015 Jul 5; 128(13): 1772–1777. doi: 10.4103/0366-6999.159353

PMCID:: PMC4733711

Abstract Article PDF–986K

Select item 42633714.

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu

PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819

PMCID:: PMC4263371

Abstract Article PDF–7.6M

Select item 2316625.

Identification of a regulatory subcomplex in the guanine nucleotide exchange factor eIF2B that mediates inhibition by phosphorylated eIF2.

W Yang, A G Hinnebusch

Mol Cell Biol. 1996 Nov; 16(11): 6603–6616. doi: 10.1128/mcb.16.11.6603

PMCID:: PMC231662

Summary PDF–2.0M

Select item 59379056.

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3

Celeste Sassi, Michael A. Nalls, Perry G. Ridge, Jesse R. Gibbs, Michelle K. Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S. Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, ARUK Consortium, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F. Powell, John S. Kauwe, Carlos Cruchaga, Alison M. Goate, Andrew B. Singleton, Rita Guerreiro, Angela Hodges, John Hardy

Neurobiol Aging. 2018 Jun; 66: 179.e17–179.e29. doi: 10.1016/j.neurobiolaging.2018.01.015

PMCID:: PMC5937905

Abstract Article PDF–2.3M

Select item 54344757.

Human Adipose-Derived Stem Cells Exhibit Enhanced Proliferative Capacity and Retain Multipotency Longer than Donor-Matched Bone Marrow Mesenchymal Stem Cells during Expansion In Vitro

Kimberley L. Burrow, Judith A. Hoyland, Stephen M. Richardson

Stem Cells Int. 2017; 2017: 2541275. Published online 2017 May 3. doi: 10.1155/2017/2541275

PMCID:: PMC5434475

Abstract Article PDF–3.1M

Select item 50787868.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng

Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936

PMCID:: PMC5078786

Abstract Article PDF–661K

Select item 49744129.

Diabetic ketoacidosis in vanishing white matter

Hannadi Alamri, Fuad Al Mutairi, Johara Alothman, Ali Alothaim, Majid Alfadhel, Ahmed Alfares

Clin Case Rep. 2016 Aug; 4(8): 717–720. Published online 2016 Jun 17. doi: 10.1002/ccr3.597

PMCID:: PMC4974412

Abstract Article PDF–790K

Select item 435654510.

Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Haihua Zhang, Lifang Dai, Na Chen, Lili Zang, Xuerong Leng, Li Du, Jingmin Wang, Yuwu Jiang, Feng Zhang, Xiru Wu, Ye Wu

PLoS One. 2015; 10(3): e0118001. Published online 2015 Mar 11. doi: 10.1371/journal.pone.0118001

PMCID:: PMC4356545

Abstract Article PDF–2.9M

Select item 349075411.

Non structural protein of avian influenza A (H11N1) virus is a weaker suppressor of immune responses but capable of inducing apoptosis in host cells

Sanjay Mukherjee, Shamik Majumdar, Veena C Vipat, Akhilesh C Mishra, Alok K Chakrabarti

Virol J. 2012; 9: 149. Published online 2012 Aug 6. doi: 10.1186/1743-422X-9-149

PMCID:: PMC3490754

Abstract Article PDF–1.3M

Select item 283140712.

Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses

John R. Hawse, James F. Hejtmancik, Quingling Huang, Nancy L. Sheets, Douglas A. Hosack, Richard A. Lempicki, Joseph Horwitz, Marc Kantorow

Mol Vis. Author manuscript; available in PMC 2010 Mar 3.

Published in final edited form as: Mol Vis. 2003 Oct 7; 9: 515–537. Published online 2003 Oct 7.

PMCID:: PMC2831407

Abstract Article PDF–1.2M

Select item 269987513.

Modulation of Skeletal Muscle Insulin Signaling With Chronic Caloric Restriction in Cynomolgus Monkeys

Zhong Q. Wang, Z. Elizabeth Floyd, Jianhua Qin, Xiaotuan Liu, Yongmei Yu, Xian H. Zhang, Janice D. Wagner, William T. Cefalu

Diabetes. 2009 Jul; 58(7): 1488–1498. Published online 2009 Mar 31. doi: 10.2337/db08-0977

PMCID:: PMC2699875

Abstract Article PDF–367K

Select item 244180214.

Comprehensive detection of human terminal oligo-pyrimidine (TOP) genes and analysis of their characteristics

Riu Yamashita, Yutaka Suzuki, Nono Takeuchi, Hiroyuki Wakaguri, Takuya Ueda, Sumio Sugano, Kenta Nakai

Nucleic Acids Res. 2008 Jun; 36(11): 3707–3715. Published online 2008 May 14. doi: 10.1093/nar/gkn248

PMCID:: PMC2441802

Abstract Article PDF–407K

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