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36564926,35313204,34486492,33257806,32397190,32170967,31898838,31327802,30315159,29274487,29220674,28194011,27866048,27633570,26713879,26210823,24040060,23535377,23447706,23266771,20201613,19451231,17651734,16685646,16536728,16148048,15940343,15574586,15361876,15101111,11787062,11579089,11257002,10866806,10677499,10601251,9848710,9686908,9487115,8619402,8605189,8319567,7876306,6842590,2994062,1734024,1662743,274701,33334799,32683844,32588558,32506774,32349449,32326615,31567194,30643008,30459475,30259794,30256258,28747635,27625340,26980027,26583190,25712891,25419715,25255767,24826067,23756437,23466368,22961449,22623727,22366783,22285204,21455487,20804785,20383143,19638415,19475567,18562541,18341992,18261463,18234857,17939680,17548472,17342765,16375898,16210567,16146415,15555571,15215896,15140972,15111311,12673016,11955010,11950601,11854414,11696420,11682052,11350761,10945978,10851017,10792467,10787407,10773068,10411937,10403844,9739080,9676236,9563518,9359436,9268132,9252372,9150887,9013719,8913639,8639502,8547189,8050815,7876308,7535922,6686106,6322116,6304075,6202424,3335520,2837653,2155660,435297,35401927,34681026,32416241,31846694,30785395,29158164,28394935,27798963,25773886,25112714,24962707,24789789,24789788,23395798,23221571,23091630,22366308,22272336,21890413,21670154,21577206,21045147,19802004,19328794,19309309,18533937,18478542,16415883,16364312,15746964,15556561,12470643,12456645,12435603,12388067,12080081,11940582,11846445,11415434,10604479,10600384,9848085,9813091,9288906,9209005,8341682,8228254,7929073,3842206,35666067,30367047,29477555,29309307,29150539,25690657,23100250,21969592,21668410,21300803,21221983,19895707,19778628,19008859,19000816,18710935,18680169,17599063,17404223,17192268,16549430,16179592,15371598,15009185,14623863,12704194,12665555,12082080,11937625,11812134,11691822,11583571,11580269,11326315,10547355,10470109,10470015,9295142,9108196,8780737,7103951,6865942,1629950,26465922,25928398,25342804,24415753,23326330,22038833,21555369,21172822,19477923,18364388,17823310,17353003,15897890,11983702,11950878,11673475,11535601,11533442,11029056,11027608,9525888,9245787,7820861,32783943,28734243,27560372,26546435,25423367,24766723,24129186,22915798,20197409,18331289,17502619,17181997,16101678,15834686,15711563,15710247,15502823,15328537,15135048,12679033,12547197,11461920,11373276,8941379,1555776,1505215,35710093,35503771,27607350,24225952,23875777,23811015,22989508,22720799,21917091,19883584,12670476,12009869,11709093,11687588,10074138,10049817,9971772,8761950,8661406,1540415,29141220,22640593,22535526,22465675,21734401,16186248,12591166,11238447,10748209,10683146,10381382,9841925,9679146,32015554,30407695,23260110,23017337,22573825,17868192,17643423,17504171,14694110,34954155,23482560,22855531,21203488,19710135,19538885,18775311,18443296,16762366,15558034,14729568,11839798,10833443,10556093,8892894,25336651,20147394,11889126,9845365,1991513,1907279,31601781,24768539,23575248,23294842,20856200,16687403,15107502,14634002,14597672,11832213,11707406,11563969,11532003,35704671,30725116,23071112,22323606,20081228,19639585,18654668,16021519,14592989,32051585,21923909,17411366,16824795,35390516,19037095,11721045,29924966,12062430,11357136,10966108,34729304,16944923,16049941,15527767,12857853,11964161,8997639,36877072,34467244,24327345,18160415,17360745,31659016,30690837,20308691,19725029,17683050,17373842,12639940,35213938,20111909,16105984,12963728,12202484,25753039,16526095,15673434,30719818,29511337,26506232,24798327,22721673,22004035,18320585,14532270,31462707,25450970,24068947,17676665,21182203,18000879,17340523,16091223,12029088,9463375,31952546,24742657,30510198,28931009,23428871,22234250,15985610,28604741,21575865,11175787,30886144,19041431,17920018,11263494,25678563,22323290,19338310,21951318,17955473,20391533,9128241,23698369,17573780,16932743,25458010,16217013,12110891,25066234,18809673,29715546,20946988,28386764,20381070,23825951,12522145,12368262,35705031,27197753,19279220,16289162,11078522,26362536,20876399,27512140,11487543,36147463,30419336,29969578,19928837,15121898,15009096,17620012,12215535,33947818,20131911,10778858,10078207,29374058,23382103,36896912,15047060,35474131,24591637,12192000,33869196,11790558,32269044,27153538,8804307,30009671,15952740,14966270,15862967,36590901,34431227,32521226,36636478,27371349,29735542,16226712,36095012,17289661,36012204,32238831,21726808,16130169,31527668,14760703,36560452,24657165,22865885,29563501,25670202,25144556,19190083,31267705,22926577,35671810,31280863,20618440,22079093,20348541,27129302,37151849,21942715,21362503,21800051,19167051,30280653,25502805,21163940,20473970,7821789,36307841,34662580,27377895,22944692,26979993,23874603,30809309,30217970,26465331,33080218,28225217,18457437,22898364,22751105,23084401,23580065,36470425,23184937,35031058,31470122,15161933,29777862,14744259,33762435,32176739,29669786,31620119,23686814,24337577,35546148,33005030,25192599,24639526,24244333,34185411,26217791,11790298,23463506,35831895,31353912,3179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The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.

Fouassier M, Isidor B, Cogne B, Béné MC, Eveillard M. Fouassier M, et al. Int J Lab Hematol. 2023 Jun;45(3):e68-e70. doi: 10.1111/ijlh.14011. Epub 2022 Dec 23. Int J Lab Hematol. 2023. PMID: 36564926 No abstract available.

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.

A pan-cancer analysis of the prognostic and immunological role of β-actin (ACTB) in human cancers.

Gu Y, Tang S, Wang Z, Cai L, Lian H, Shen Y, Zhou Y. Gu Y, et al. Bioengineered. 2021 Dec;12(1):6166-6185. doi: 10.1080/21655979.2021.1973220. Bioengineered. 2021. PMID: 34486492 Free PMC article.

Nuclear F-actin counteracts nuclear deformation and promotes fork repair during replication stress.

Lamm N, Read MN, Nobis M, Van Ly D, Page SG, Masamsetti VP, Timpson P, Biro M, Cesare AJ. Lamm N, et al. Nat Cell Biol. 2020 Dec;22(12):1460-1470. doi: 10.1038/s41556-020-00605-6. Epub 2020 Nov 30. Nat Cell Biol. 2020. PMID: 33257806

D-Loop Mutation G42A/G46A Decreases Actin Dynamics.

Matsuzaki M, Fujiwara I, Kashima S, Matsumoto T, Oda T, Hayashi M, Maeda K, Takiguchi K, Maéda Y, Narita A. Matsuzaki M, et al. Biomolecules. 2020 May 8;10(5):736. doi: 10.3390/biom10050736. Biomolecules. 2020. PMID: 32397190 Free PMC article.

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.

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Baumann M, Beaver EM, Palomares-Bralo M, Santos-Simarro F, Holzer P, Povysil G, Müller T, Valovka T, Janecke AR. Baumann M, et al. Hum Mutat. 2020 Apr;41(4):753-758. doi: 10.1002/humu.23970. Epub 2020 Jan 16. Hum Mutat. 2020. PMID: 31898838 Free PMC article.

The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population.

Yang S, Zhao Y, Chen X, Lu X, Chen Y, Zhao X, Zhu L, Fang Z, Zhao H, Yao Y, Liu C, Shen C. Yang S, et al. J Atheroscler Thromb. 2020 Mar 1;27(3):226-244. doi: 10.5551/jat.49536. Epub 2019 Jul 19. J Atheroscler Thromb. 2020. PMID: 31327802 Free PMC article.

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.

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M. Palumbo O, et al. Eur J Med Genet. 2018 May;61(5):248-252. doi: 10.1016/j.ejmg.2017.12.008. Epub 2017 Dec 20. Eur J Med Genet. 2018. PMID: 29274487

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