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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1988 1
1989 1
1990 1
1991 1
1993 1
1995 5
1996 2
1997 1
1998 2
1999 3
2000 5
2001 5
2002 9
2003 5
2004 5
2005 6
2006 2
2007 7
2008 10
2009 10
2010 15
2011 13
2012 15
2013 11
2014 9
2015 6
2016 10
2017 9
2018 11
2019 13
2020 8
2021 10
2022 11
2023 6
2024 1

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PubMed for id: 5530

216 results

Results by year

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Page 1
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study; Bi W. Panneerselvam S, et al. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1. Clin Genet. 2021. PMID: 33963760
Calcineurin.
Creamer TP. Creamer TP. Cell Commun Signal. 2020 Aug 28;18(1):137. doi: 10.1186/s12964-020-00636-4. Cell Commun Signal. 2020. PMID: 32859215 Free PMC article. Review.
Cis-trans proline isomers in the catalytic domain of calcineurin.
Teixeira JMC, Guasch A, Biçer A, Aranguren-Ibáñez Á, Chashmniam S, Paniagua JC, Pérez-Riba M, Fita I, Pons M. Teixeira JMC, et al. FEBS J. 2019 Mar;286(6):1230-1239. doi: 10.1111/febs.14721. Epub 2018 Dec 31. FEBS J. 2019. PMID: 30536857 Free article.
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 Free PMC article.
Calcineurin in a Crowded World.
Cook EC, Creamer TP. Cook EC, et al. Biochemistry. 2016 Jun 7;55(22):3092-101. doi: 10.1021/acs.biochem.6b00059. Epub 2016 May 19. Biochemistry. 2016. PMID: 27187005 Free PMC article.
216 results