PMC Links for Nucleotide (Select 1677498646) - 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 65947542.

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons

Disi An, Ryosuke Fujiki, Dylan E Iannitelli, John W Smerdon, Shuvadeep Maity, Matthew F Rose, Alon Gelber, Elizabeth K Wanaselja, Ilona Yagudayeva, Joun Y Lee, Christine Vogel, Hynek Wichterle, Elizabeth C Engle, Esteban Orlando Mazzoni

eLife. 2019; 8: e44423. Published online 2019 Jun 3. doi: 10.7554/eLife.44423

PMCID:: PMC6594754

Abstract Article PDF–3.5M

Select item 63078183.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H. Kehlenbach, Ralf Ficner, Nigel G. Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog

PLoS Genet. 2018 Dec; 14(12): e1007845. Published online 2018 Dec 13. doi: 10.1371/journal.pgen.1007845

PMCID:: PMC6307818

Abstract Article PDF–3.9M

Select item 57572184.

ROCK‐dependent phosphorylation of NUP62 regulates p63 nuclear transport and squamous cell carcinoma proliferation

Masaharu Hazawa, De‐Chen Lin, Akiko Kobayashi, Yan‐Yi Jiang, Liang Xu, Firli Rahmah Primula Dewi, Mahmoud Shaaban Mohamed, Hartono, Mitsutoshi Nakada, Makiko Meguro‐Horike, Shin‐ichi Horike, H Phillip Koeffler, Richard W Wong

EMBO Rep. 2018 Jan; 19(1): 73–88. Published online 2017 Dec 7. doi: 10.15252/embr.201744523