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Actin Mutations and Their Role in Disease.
Int J Mol Sci. 2020 May 10;21(9):3371. doi: 10.3390/ijms21093371.
2
Structure of the rigor actin-tropomyosin-myosin complex.
Cell. 2012 Jul 20;150(2):327-38. doi: 10.1016/j.cell.2012.05.037.
3
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
Hum Mol Genet. 2013 Oct 1;22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4.
6
The properties of the actin-myosin interaction in the heart muscle depend on the isoforms of myosin but not of α-actin.
Biochem Biophys Res Commun. 2016 Aug 5;476(4):648-653. doi: 10.1016/j.bbrc.2016.06.013. Epub 2016 Jun 3.
7
Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
Hum Mol Genet. 2013 Nov 1;22(21):4398-404. doi: 10.1093/hmg/ddt289. Epub 2013 Jun 19.
10
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Hum Mol Genet. 2013 Dec 15;22(24):4978-87. doi: 10.1093/hmg/ddt345. Epub 2013 Jul 25.

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A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.
Hum Genome Var. 2025 Sep 3;12(1):16. doi: 10.1038/s41439-025-00319-x.
2
Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.
FEBS Lett. 2025 Sep;599(17):2449-2462. doi: 10.1002/1873-3468.70088. Epub 2025 Jun 9.
3
An Update on Reported Variants in the Skeletal Muscle -Actin () Gene.
Hum Mutat. 2024 Oct 28;2024:6496088. doi: 10.1155/2024/6496088. eCollection 2024.
4
The complete absence of cytoplasmic γ-actin results in no discernible phenotype in mice or primary fibroblasts.
FEBS J. 2025 Jul;292(13):3565-3576. doi: 10.1111/febs.70075. Epub 2025 Mar 20.
5
The Actin-Binding Prolyl-Isomerase Par17 Sustains Its Substrate Selectivity by Interdomain Allostery.
Proteins. 2025 Sep;93(9):1481-1497. doi: 10.1002/prot.26807. Epub 2025 Mar 12.
6
Mutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.
Case Rep Genet. 2024 Dec 28;2024:9517735. doi: 10.1155/crig/9517735. eCollection 2024.
8
Actin filament dynamics at barbed ends: New structures, new insights.
Curr Opin Cell Biol. 2024 Oct;90:102419. doi: 10.1016/j.ceb.2024.102419. Epub 2024 Aug 22.
9
Actin cytoskeletal regulation of ciliogenesis in development and disease.
Dev Dyn. 2024 Dec;253(12):1076-1093. doi: 10.1002/dvdy.724. Epub 2024 Jul 3.

本文引用的文献

1
Structures of cofilin-induced structural changes reveal local and asymmetric perturbations of actin filaments.
Proc Natl Acad Sci U S A. 2020 Jan 21;117(3):1478-1484. doi: 10.1073/pnas.1915987117. Epub 2020 Jan 3.
2
Troponin structure and function: a view of recent progress.
J Muscle Res Cell Motil. 2020 Mar;41(1):71-89. doi: 10.1007/s10974-019-09513-1. Epub 2019 Apr 27.
5
Actin Post-translational Modifications: The Cinderella of Cytoskeletal Control.
Trends Biochem Sci. 2019 Jun;44(6):502-516. doi: 10.1016/j.tibs.2018.11.010. Epub 2019 Jan 2.
6
Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function.
Front Physiol. 2018 Dec 4;9:1756. doi: 10.3389/fphys.2018.01756. eCollection 2018.
8
ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.
Circ Genom Precis Med. 2018 Oct;11(10):e002243. doi: 10.1161/CIRCGEN.118.002243.
9
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0.
10
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cerebrovasc Dis. 2018;46(3-4):161-171. doi: 10.1159/000493863. Epub 2018 Oct 9.

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