PMC Links for GEO Profiles (Select 119192791) - PMC

Select item 103197771.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, Seema Lalani, David R Murdock, Lindsay C Burrage, Undiagnosed Diseases Network, Ping Yee Billie Au, Shelley Towner, William G Wilson, Lawrence Wong, Theresa Brunet, Gertrud Strobl-Wildemann, Jennifer E Burton, George Hoganson, Kirsty McWalter, Amber Begtrup, Yuri A Zarate, Elyse L Christensen, Karla J Opperman, Andrew C Giles, Rana Helaby, Artur Kania, Ning Zheng, Brock Grill, Fowzan S Alkuraya

Brain. 2023 Apr; 146(4): 1373–1387. Published online 2022 Oct 6. doi: 10.1093/brain/awac364

PMCID:: PMC10319777

Abstract Article PDF–1.1M

Select item 97926622.

MYCBP2 expression correlated with inflammatory cell infiltration and prognosis immunotherapy in thyroid cancer patients

Guilin Wang, Chen Miao, Lijun Mo, Ulf D. Kahlert, Jinfeng Wu, Minglin Ou, Renxiang Huang, Ruifa Feng, Weiyi Pang, Wenjie Shi

Front Immunol. 2022; 13: 1048503. Published online 2022 Dec 13. doi: 10.3389/fimmu.2022.1048503

PMCID:: PMC9792662

Abstract Article PDF–11M

Select item 62510293.

Epigenetically regulated miR-1247 functions as a novel tumour suppressor via MYCBP2 in methylator colon cancers

Jennifer Liang, Wenchao Zhou, Nneha Sakre, Jennifer DeVecchio, Sylvain Ferrandon, Angela H. Ting, Shideng Bao, Ian Bissett, James Church, Matthew F. Kalady

Br J Cancer. 2018 Nov 13; 119(10): 1267–1277. Published online 2018 Oct 15. doi: 10.1038/s41416-018-0249-9

PMCID:: PMC6251029

Abstract Article PDF–3.2M

Select item 49062314.

The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway

Carla F. Bento, Avraham Ashkenazi, Maria Jimenez-Sanchez, David C. Rubinsztein

Nat Commun. 2016; 7: 11803. Published online 2016 Jun 9. doi: 10.1038/ncomms11803

PMCID:: PMC4906231

Abstract Article PDF–3.5M

Select item 46462065.

MYCBP2 Is a Guanosine Exchange Factor for Ran Protein and Determines Its Localization in Neurons of Dorsal Root Ganglia

Angela Dörr, Sandra Pierre, Dong D. Zhang, Marina Henke, Sabrina Holland, Klaus Scholich

J Biol Chem. 2015 Oct 16; 290(42): 25620–25635. Published online 2015 Aug 24. doi: 10.1074/jbc.M115.646901

PMCID:: PMC4646206

Abstract Article PDF–3.4M

Select item 43574516.

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

Lily Paemka, Vinit B. Mahajan, Salleh N. Ehaideb, Jessica M. Skeie, Men Chee Tan, Shu Wu, Allison J. Cox, Levi P. Sowers, Jozef Gecz, Lachlan Jolly, Polly J. Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Hatem El-Shanti, Stephen A. Wood, J. Robert Manak, Alexander G. Bassuk

PLoS Genet. 2015 Mar; 11(3): e1005022. Published online 2015 Mar 12. doi: 10.1371/journal.pgen.1005022