PMC Links for OMIM (Select 607204) - PMC

Select item 89785591.

A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

Yuanzhen Ye, Zhanqi Hu, Jiahui Mai, Li Chen, Dezhi Cao, Jianxiang Liao, Jing Duan

Front Pediatr. 2022; 10: 759889. Published online 2022 Mar 21. doi: 10.3389/fped.2022.759889

PMCID:: PMC8978559

Select item 58320582.

A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P. Schaaf, Jill A. Rosenfeld, Jessica A. Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P. Kirk, Pawel Stankiewicz, Amy M. Breman, Arran McBride, Tejaswi Kandula, Holly A. Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith-Rae Dias, Megan T. Cho, Lindsay B. Henderson, Berivan Baskin, Paula Morris, Jiang Tao, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani K. Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M. Boycott, J. Lloyd Holder, Jr., Huda Y. Zoghbi

Cell. Author manuscript; available in PMC 2019 Feb 22.

Published in final edited form as: Cell. 2018 Feb 22; 172(5): 924–936.e11. doi: 10.1016/j.cell.2018.02.006

PMCID:: PMC5832058

Abstract Article PDF–1.9M

Select item 47156823.

Noncoding RNA NORAD regulates genomic stability by sequestering PUMILIO proteins

Sungyul Lee, Florian Kopp, Tsung-Cheng Chang, Anupama Sataluri, Beibei Chen, Sushama Sivakumar, Hongtao Yu, Yang Xie, Joshua T. Mendell

Cell. Author manuscript; available in PMC 2017 Jan 14.

Published in final edited form as: Cell. 2016 Jan 14; 164(0): 69–80. Published online 2015 Dec 24. doi: 10.1016/j.cell.2015.12.017

PMCID:: PMC4715682

Abstract Article PDF–2.1M

Select item 43830464.

Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

Vincenzo A. Gennarino, Ravi K. Singh, Joshua J. White, Antonia De Maio, Kihoon Han, Ji-Yoen Kim, Paymaan Jafar-Nejad, Alberto di Ronza, Hyojin Kang, Layal S. Sayegh, Thomas A. Cooper, Harry T. Orr, Roy V. Sillitoe, Huda Y. Zoghbi

Cell. Author manuscript; available in PMC 2016 Mar 12.

Published in final edited form as: Cell. 2015 Mar 12; 160(6): 1087–1098. doi: 10.1016/j.cell.2015.02.012

PMCID:: PMC4383046

Abstract Article PDF–1.5M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity