PMC Links for Nucleotide (Select 1388618327) - PMC

Select item 69856661.

Gamabufotalin induces a negative feedback loop connecting ATP1A3 expression and the AQP4 pathway to promote temozolomide sensitivity in glioblastoma cells by targeting the amino acid Thr794

Yu‐Long Lan, Cheng Chen, Xun Wang, Jia‐Cheng Lou, Jin‐Shan Xing, Shuang Zou, Ji‐Liang Hu, Wen Lyu, Bo Zhang

Cell Prolif. 2020 Jan; 53(1): e12732. Published online 2019 Nov 20. doi: 10.1111/cpr.12732

PMCID:: PMC6985666

Abstract Article PDF–3.4M

Select item 63228752.

Functional consequences of the CAPOS mutation E818K of Na⁺,K⁺-ATPase

Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen

J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591

PMCID:: PMC6322875

Abstract Article PDF–2.6M

Select item 67752073.

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle

Front Cell Neurosci. 2019; 13: 425. Published online 2019 Sep 26. doi: 10.3389/fncel.2019.00425

PMCID:: PMC6775207

Abstract Article PDF–4.5M

Select item 67532184.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988

PMCID:: PMC6753218

Abstract Article PDF–761K

Select item 66607005.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 65365926.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

Select item 61744587.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 49716888.

Flexible selection of diversified Na⁺/K⁺-ATPase α-subunit isoforms for osmoregulation in teleosts

Marty Kwok-Shing Wong, Supriya Pipil, Haruka Ozaki, Yutaka Suzuki, Wataru Iwasaki, Yoshio Takei

Zoological Lett. 2016; 2: 15. Published online 2016 Aug 3. doi: 10.1186/s40851-016-0050-7

PMCID:: PMC4971688

Abstract Article PDF–2.8M

Select item 38273029.

Molecular Cloning and Characterization of Porcine Na⁺/K⁺-ATPase Isoforms α1, α2, α3 and the ATP1A3 Promoter

Carina Henriksen, Kasper Kjaer-Sorensen, Anja Pernille Einholm, Lone Bruhn Madsen, Jamal Momeni, Christian Bendixen, Claus Oxvig, Bente Vilsen, Knud Larsen

PLoS One. 2013; 8(11): e79127. Published online 2013 Nov 13. doi: 10.1371/journal.pone.0079127

PMCID:: PMC3827302

Abstract Article PDF–1.5M

Select item 356803110.

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose

PLoS One. 2013; 8(2): e56120. Published online 2013 Feb 8. doi: 10.1371/journal.pone.0056120

PMCID:: PMC3568031

Abstract Article PDF–836K

Select item 179686611.

Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis

Carsten W Lederer, Antonietta Torrisi, Maria Pantelidou, Niovi Santama, Sebastiano Cavallaro

BMC Genomics. 2007; 8: 26. Published online 2007 Jan 23. doi: 10.1186/1471-2164-8-26

PMCID:: PMC1796866

Abstract Article PDF–4.5M

Select item 166493712.

Intense exercise up-regulates Na⁺,K⁺-ATPase isoform mRNA, but not protein expression in human skeletal muscle

K T Murphy, R J Snow, A C Petersen, R M Murphy, J Mollica, J S Lee, A P Garnham, R J Aughey, J A Leppik, I Medved, D Cameron-Smith, M J McKenna

J Physiol. 2004 Apr 15; 556(Pt 2): 507–519. Published online 2004 Jan 30. doi: 10.1113/jphysiol.2003.054981

PMCID:: PMC1664937

Abstract Article PDF–521K

Select item 113476713.

The expression of the human neuronal α3 Na⁺,K⁺-ATPase subunit gene is regulated by the activity of the Sp1 and NF-Y transcription factors

Roberta Benfante, Ruth Adele Antonini, Monica Vaccari, Adriano Flora, Fabian Chen, Francesco Clementi, Diego Fornasari

Biochem J. 2005 Feb 15; 386(Pt 1): 63–72. Prepublished online 2004 Oct 6. Published online 2005 Feb 8. doi: 10.1042/BJ20041294

PMCID:: PMC1134767

Abstract Article PDF–806K

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