PubMed (cited) for id: 102630

Year	Number of Results
1978	1
1982	1
1983	1
1984	1
1985	3
1988	1
1992	2
1996	1
1999	2
2000	1
2001	1
2002	2
2005	1
2006	2
2007	1
2010	2
2012	1
2013	2
2014	4
2015	1
2017	3
2018	3
2019	2
2020	2
2021	1
2022	3
2024	0

1

Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB.

Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J. Ramspacher J, et al. Acta Derm Venereol. 2022 Oct 31;102:adv00806. doi: 10.2340/actadv.v102.1141. Acta Derm Venereol. 2022. PMID: 35971836 Free PMC article. No abstract available.

2

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.

Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. Greve JN, et al. Eur J Cell Biol. 2022 Apr;101(2):151216. doi: 10.1016/j.ejcb.2022.151216. Epub 2022 Mar 15. Eur J Cell Biol. 2022. PMID: 35313204 Free article.

3

Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.

Zavala L, Ziegler G, Morón DG, Garretto N. Zavala L, et al. Mov Disord Clin Pract. 2021 Nov 14;9(1):122-124. doi: 10.1002/mdc3.13358. eCollection 2022 Jan. Mov Disord Clin Pract. 2021. PMID: 35005077 Free PMC article. No abstract available.

4

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Atzmony L, et al. J Cutan Pathol. 2020 Aug;47(8):681-685. doi: 10.1111/cup.13683. Epub 2020 Apr 6. J Cutan Pathol. 2020. PMID: 32170967 Free PMC article.

5

Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.

Freitas JL, Vale TC, Barsottini OGP, Pedroso JL. Freitas JL, et al. Mov Disord Clin Pract. 2019 Nov 14;7(1):86-87. doi: 10.1002/mdc3.12854. eCollection 2020 Jan. Mov Disord Clin Pract. 2019. PMID: 31970217 Free PMC article. No abstract available.

6

Sandestig A, Green A, Jonasson J, Vogt H, Wahlström J, Pepler A, Ellnebo K, Biskup S, Stefanova M. Sandestig A, et al. Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 9. Mol Syndromol. 2019. PMID: 30733661 Free PMC article.

7

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0. Nat Commun. 2018. PMID: 30315159 Free PMC article.

8

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC. Skogseid IM, et al. J Neurodev Disord. 2018 May 22;10(1):17. doi: 10.1186/s11689-018-9235-z. J Neurodev Disord. 2018. PMID: 29788902 Free PMC article.

9

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.

10

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Conboy E, et al. Case Rep Genet. 2017;2017:9184265. doi: 10.1155/2017/9184265. Epub 2017 Apr 12. Case Rep Genet. 2017. PMID: 28487785 Free PMC article.

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