PMC Articles for MedGen (Select 1824054) - PMC

Select item 3710861.

The Vaccinia Virus K1L Gene Product Inhibits Host NF-κB Activation by Preventing IκBα Degradation

Joanna L. Shisler, Xiao-Lu Jin

J Virol. 2004 Apr; 78(7): 3553–3560. doi: 10.1128/JVI.78.7.3553-3560.2004

PMCID:: PMC371086

Select item 107160272.

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang

HGG Adv. 2024 Jan 11; 5(1): 100256. Published online 2023 Nov 19. doi: 10.1016/j.xhgg.2023.100256

PMCID:: PMC10716027

Abstract Article PDF–6.0M

Select item 96364233.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart

Nat Commun. 2022; 13: 6664. Published online 2022 Nov 4. doi: 10.1038/s41467-022-34349-8

PMCID:: PMC9636423

Abstract Article PDF–3.4M

Select item 70571294.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone

Mol Genet Genomic Med. 2020 Mar; 8(3): e1064. Published online 2020 Jan 14. doi: 10.1002/mgg3.1064

PMCID:: PMC7057129

Abstract Article PDF–592K

Select item 36062815.

Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer

Ursula M. Schick, Andrew McDavid, Paul K. Crane, Noah Weston, Kelly Ehrlich, Katherine M. Newton, Robert Wallace, Ebony Bookman, Tabitha Harrison, Aaron Aragaki, David R. Crosslin, Sophia S. Wang, Alex P. Reiner, Rebecca D. Jackson, Ulrike Peters, Eric B. Larson, Gail P. Jarvik, Christopher S. Carlson

PLoS One. 2013; 8(3): e59823. Published online 2013 Mar 22. doi: 10.1371/journal.pone.0059823

PMCID:: PMC3606281

Abstract Article PDF–959K

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