www.fgks.org   »   [go: up one dir, main page]
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1992 3
1993 3
1995 1
1996 2
1997 2
1998 5
1999 5
2000 8
2001 6
2002 9
2003 10
2004 8
2005 6
2006 6
2007 4
2008 4
2009 6
2010 12
2011 7
2012 5
2013 5
2014 8
2015 4
2016 5
2017 4
2018 2
2019 9
2020 7
2021 6
2022 5
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

PubMed for id: 88

154 results

Results by year

Filters applied: . Clear all
Page 1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2.
Rodriguez Garcia M, Schmeckpeper J, Landim-Vieira M, Coscarella IL, Fang X, Ma W, Spran PA, Yuan S, Qi L, Kahmini AR, Shoemaker MB, Atkinson JB, Kekenes-Huskey PM, Irving TC, Chase PB, Knollmann BC, Pinto JR. Rodriguez Garcia M, et al. Int J Mol Sci. 2023 Sep 26;24(19):14572. doi: 10.3390/ijms241914572. Int J Mol Sci. 2023. PMID: 37834023 Free PMC article.
A comprehensive SARS-CoV-2-human protein-protein interactome reveals COVID-19 pathobiology and potential host therapeutic targets.
Zhou Y, Liu Y, Gupta S, Paramo MI, Hou Y, Mao C, Luo Y, Judd J, Wierbowski S, Bertolotti M, Nerkar M, Jehi L, Drayman N, Nicolaescu V, Gula H, Tay S, Randall G, Wang P, Lis JT, Feschotte C, Erzurum SC, Cheng F, Yu H. Zhou Y, et al. Nat Biotechnol. 2023 Jan;41(1):128-139. doi: 10.1038/s41587-022-01474-0. Epub 2022 Oct 10. Nat Biotechnol. 2023. PMID: 36217030 Free PMC article.
Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Ranta-Aho J, et al. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. Hum Mutat. 2022. PMID: 36116040 Free PMC article. Review.
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.
Zech ATL, Prondzynski M, Singh SR, Pietsch N, Orthey E, Alizoti E, Busch J, Madsen A, Behrens CS, Meyer-Jens M, Mearini G, Lemoine MD, Krämer E, Mosqueira D, Virdi S, Indenbirken D, Depke M, Salazar MG, Völker U, Braren I, Pu WT, Eschenhagen T, Hammer E, Schlossarek S, Carrier L. Zech ATL, et al. Cells. 2022 Sep 2;11(17):2745. doi: 10.3390/cells11172745. Cells. 2022. PMID: 36078153 Free PMC article.
OpenCell: Endogenous tagging for the cartography of human cellular organization.
Cho NH, Cheveralls KC, Brunner AD, Kim K, Michaelis AC, Raghavan P, Kobayashi H, Savy L, Li JY, Canaj H, Kim JYS, Stewart EM, Gnann C, McCarthy F, Cabrera JP, Brunetti RM, Chhun BB, Dingle G, Hein MY, Huang B, Mehta SB, Weissman JS, Gómez-Sjöberg R, Itzhak DN, Royer LA, Mann M, Leonetti MD. Cho NH, et al. Science. 2022 Mar 11;375(6585):eabi6983. doi: 10.1126/science.abi6983. Epub 2022 Mar 11. Science. 2022. PMID: 35271311 Free PMC article.
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT. Lindholm ME, et al. Circ Genom Precis Med. 2021 Dec;14(6):e003419. doi: 10.1161/CIRCGEN.121.003419. Epub 2021 Nov 22. Circ Genom Precis Med. 2021. PMID: 34802252 Free PMC article.
154 results