Citations for
1ACTG1, ASAP3
Loss of ASAP3 destabilizes cytoskeletal protein ACTG1 to suppress cancer cell migration.
Luo Y, Kong F, Wang Z, Chen D, Liu Q, Wang T, Xu R, Wang X, Yang JY.
Mol Med Rep 9(2):387-94. doi: 10.3892/mmr.2013.1831. Epub 2013 Nov 27. 2014
2ACTB, ACTG1, BRWS1, BRWS2
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome.
Eker HK, Derinkuyu BE, Unal S, Masliah-Planchon J, Drunat S, Verloes A.
Eur J Med Genet 57(1):32-6. doi: 10.1016/j.ejmg.2013.10.005. Epub 2013 Nov 7. 2014
3ACTB, ACTG1
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A.
Eur J Hum Genet 22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. 2014
4ACTG1, DFNA20
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
Park G, Gim J, Kim AR, Han KH, Kim HS, Oh SH, Park T, Park WY, Choi B.
BMC Genomics 14:191. doi: 10.1186/1471-2164-14-191. 2013
5ACTG1
A novel actin mRNA splice variant regulates ACTG1 expression.
Drummond MC, Friderici KH.
PLoS Genet 9(10):e1003743. doi: 10.1371/journal.pgen.1003743. Epub 2013 Oct 3. 2013
6ACTB, ACTG1, BRWS1, BRWS2
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB.
Nat Genet 44(4):440-4, S1-2. doi: 10.1038/ng.1091. 2012
7ACTB, ACTG1
Nonredundant roles of cytoplasmic β- and γ-actin isoforms in regulation of epithelial apical junctions.
Baranwal S, Naydenov NG, Harris G, Dugina V, Morgan KG, Chaponnier C, Ivanov AI.
Mol Biol Cell 23(18):3542-53. doi: 10.1091/mbc.E12-02-0162. Epub 2012 Aug 1. 2012
8ACTB, ACTG1
β-Actin specifically controls cell growth, migration, and the G-actin pool.
Bunnell TM, Burbach BJ, Shimizu Y, Ervasti JM.
Mol Biol Cell 22(21):4047-58. Epub 2011 Sep 7. 2011
9ACTG1, ROCK1
γ-Actin regulates cell migration and modulates the ROCK signaling pathway.
Shum MS, Pasquier E, Po'uha ST, O'Neill GM, Chaponnier C, Gunning PW, Kavallaris M.
FASEB J 25(12):4423-33. Epub 2011 Sep 9. 2011
10ACTB, ACTG1
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance.
Perrin BJ, Sonnemann KJ, Ervasti JM.
PLoS Genet 6(10):e1001158. doi: 10.1371/journal.pgen.1001158. 2010
11ACTG1, DFNA20
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
de Heer AM, Huygen PL, Collin RW, Oostrik J, Kremer H, Cremers CW.
Ann Otol Rhinol Laryngol 118(5):382-90. 2009
12ACTG1, DFNA20
Allele-specific Effects of Human Deafness {gamma}-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction.
Bryan KE, Rubenstein PA.
J Biol Chem 284(27):18260-9. Epub 2009 May 6. 2009
13ACTG1, DFNA20
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA.
Hum Mol Genet 18(16):3075-89. Epub 2009 May 28. 2009
14ACTG1, DFNA20
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu J, Wang Q, Liu M.
J Genet Genomics 35(9):553-8. 2008
15ACTG1, DFNA20
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA.
J Biol Chem 281(29):20129-39. Epub 2006 May 10. 2006
16ACTG1
Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.
Loomis PA, Kelly AE, Zheng L, Changyaleket B, Sekerkova G, Mugnaini E, Ferreira A, Mullins RD, Bartles JR.
J Cell Sci 119(Pt 8):1655-65. Epub 2006 Mar 28. 2006
17ACTG1, DFNA20
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L.
Eur J Hum Genet 14(10):1097-105. Epub 2006 Jun 14. 2006
18ACTG1, DFNA20
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H.
J Med Genet 40(12):879-84. 2003
19ACTG1, COL1A1, COL1A2, COL2A1, COL9A1, DIO2, HSPA8, IBSP, IGF1, KAT6B, OGN, POU3F4, RBMS3, VIM, ZIC2
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP.
Genomics 82(4):480-90. 2003
20ACTG1, DFNA20
Mutations in the gamma-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH.
Am J Hum Genet 73(6):1082-91. Epub 2003 Sep 16. 2003
21ACTBP7, ACTBP8, ACTBP9, ACTG1, ACTGP1, ACTGP3, ACTGP9
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
Ueyama H, et al.
Cytogenet Cell Genet 74 : 221-224. 1996
22ACTG1
An STS in the human cytoskeletal gamma-actin gene.
Freeman BC, et al.
Nucleic Acids Res 19 : 5085. 1991
23ACTG1
Construction of a gamma actin specific cDNA probe detecting very common RFLPs.
Singh S, et al.
(HGM10) Cytogenet Cell Genet 51 : 1080-1081. 1989
24ACTG1
Structure, chromosome location, and expression of the human gamma-actin gene : differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.
Erba HP, et al.
Mol Cell Biol 8 : 1775-1789. 1988