PMC Links for Nucleotide (Select 1519246447) - 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 44412153.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 2316624.

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 857535.

Identification of Domains and Residues within the ɛ Subunit of Eukaryotic Translation Initiation Factor 2B (eIF2Bɛ) Required for Guanine Nucleotide Exchange Reveals a Novel Activation Function Promoted by eIF2B Complex Formation

Edith Gomez, Graham D. Pavitt

Mol Cell Biol. 2000 Jun; 20(11): 3965–3976. doi: 10.1128/mcb.20.11.3965-3976.2000

PMCID:: PMC85753

Abstract Article PDF–2.5M

Select item 61629516.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

Genome Med. 2018; 10: 74. Published online 2018 Sep 28. doi: 10.1186/s13073-018-0582-x

PMCID:: PMC6162951

Abstract Article PDF–844K

Select item 59379057.

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