Zhu M., Yang T., Wei S., DeWan A.T., Morell R.J., Elfenbein J.L., Fisher R.A., Leal S.M., Smith R.J.H., Friderici K.H.

Am. J. Hum. Genet. 73:1082-1091(2003) GAD 115430 GeneRIF 71 · UniProtKB (1) · Mapped (26)
Associated with AGING: Dominant Progressive Deafness; GAD 115430 the first description of a mutation in cytoskeletal or nonmuscle actin; with an autosomal dominant progressive sensorineural hearing loss phenotype GeneRIF 71

Cheng C., Sharp P.A.

Mol. Cell. Biol. 23:1961-1967(2003) GeneRIF 71 · Mapped (33)
RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes. GeneRIF 71

van Wijk E., Krieger E., Kemperman M.H., De Leenheer E.M.R., Huygen P.L.M., Cremers C.W.R.J., Cremers F.P.M., Kremer H.

J. Med. Genet. 40:879-884(2003) GeneRIF 71 · UniProtKB (1) · Mapped (26)
A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss. GeneRIF 71

Godsel L.M., Hsieh S.N., Amargo E.V., Bass A.E., Pascoe-McGillicuddy L.T., Huen A.C., Thorne M.E., Gaudry C.A., Park J.K., Myung K. et al.

J. Cell Biol. 171:1045-1059(2005) GeneRIF 71 · Mapped (35)
Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions. GeneRIF 71

Loomis P.A., Kelly A.E., Zheng L., Changyaleket B., Sekerkova G., Mugnaini E., Ferreira A., Mullins R.D., Bartles J.R.

J. Cell. Sci. 119:1655-1665(2006) GeneRIF 71 · Mapped (40)
Espins do not activate the Arp2/3 complex in vitro and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells. GeneRIF 71

Bryan K.E., Wen K.K., Zhu M., Rendtorff N.D., Feldkamp M., Tranebjaerg L., Friderici K.H., Rubenstein P.A.

J. Biol. Chem. 281:20129-20139(2006) GeneRIF 71 · Mapped (28)
A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. GeneRIF 71

Rendtorff N.D., Zhu M., Fagerheim T., Antal T.L., Jones M., Teslovich T.M., Gillanders E.M., Barmada M., Teig E., Trent J.M. et al.

Eur. J. Hum. Genet. 14:1097-1105(2006) GeneRIF 71 · UniProtKB (1) · Mapped (26)
the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark. GeneRIF 71

Esue O., Carson A.A., Tseng Y., Wirtz D.

J. Biol. Chem. 281:30393-30399(2006) GeneRIF 71 · Mapped (27)
actin and vimentin filaments can interact directly through the tail domain of vimentin GeneRIF 71

Charras G.T., Hu C.K., Coughlin M., Mitchison T.J.

J. Cell Biol. 175:477-490(2006) GeneRIF 71 · Mapped (27)
During cell membrane blebbing actin recruitment is involved in cortex assembly. GeneRIF 71

Danilewicz M., Wagrowska-Danilewicz M.

Pol J Pathol 57:193-198(2006) GeneRIF 71 · Mapped (36)
In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA. GeneRIF 71

Brown M.D., Bry L., Li Z., Sacks D.B.

J. Biol. Chem. 282:30265-30272(2007) GeneRIF 71 · Mapped (41)
IQGAP1 regulates Salmonella invasion through interactions with actin Rac1 and Cdc42 GeneRIF 71

Smith S.J., McCann R.O.

Biochemistry 46:10886-10898(2007) GeneRIF 71 · Mapped (29)
In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding stabilization and cross-linking of actin filaments and focal adhesion targeting. GeneRIF 71

Ferron F., Rebowski G., Lee S.H., Dominguez R.

EMBO J. 26:4597-4606(2007) GeneRIF 71 · UniProtKB (2) · Mapped (29)
analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP GeneRIF 71

Liu P., Li H., Ren X., Mao H., Zhu Q., Zhu Z., Yang R., Yuan W., Liu J., Wang Q. et al.

J. Genet. Genomics 35:553-558(2008) GeneRIF 71 · UniProtKB (1) · Mapped (26)
In this study a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. GeneRIF 71

Mouilleron S., Guettler S., Langer C.A., Treisman R., McDonald N.Q.

EMBO J. 27:3198-3208(2008) GeneRIF 71 · UniProtKB (1) · Mapped (38)
Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3. GeneRIF 71

Martins-de-Souza D., Gattaz W.F., Schmitt A., Maccarrone G., Hunyadi-Gulyas E., Eberlin M.N., Souza G.H., Marangoni S., Novello J.C., Turck C.W. et al.

J Psychiatr Res 43:978-986(2009) GeneRIF 71 · Mapped (144)
This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. GeneRIF 71

Morin M., Bryan K.E., Mayo-Merino F., Goodyear R., Mencia A., Modamio-Hoybjor S., del Castillo I., Cabalka J.M., Richardson G., Moreno F. et al.

Hum. Mol. Genet. 18:3075-3089(2009) GeneRIF 71 · UniProtKB (1) · Mapped (26)
Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment. GeneRIF 71

de Heer A.M., Huygen P.L., Collin R.W., Oostrik J., Kremer H., Cremers C.W.

Ann. Otol. Rhinol. Laryngol. 118:382-390(2009) GeneRIF 71 · Mapped (27)
audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus. GeneRIF 71

Dugina V., Zwaenepoel I., Gabbiani G., Clement S., Chaponnier C.

J. Cell. Sci. 122:2980-2988(2009) GeneRIF 71 · Mapped (27)
These results reveal new aspects of beta- and gamma-actin organization that support their functional diversity. GeneRIF 71

Martins-de-Souza D., Schmitt A., Roder R., Lebar M., Schneider-Axmann T., Falkai P., Turck C.W.

J Psychiatr Res 44:989-991(2010) GeneRIF 71 · Mapped (235)
This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia GeneRIF 71

Qi T., Tang W., Wang L., Zhai L., Guo L., Zeng X.

J. Biol. Chem. 286:15171-15181(2011) GeneRIF 71 · Mapped (28)
actin participates in transcription elongation by recruiting Cdk9 a catalytic subunit of P-TEFb for phosphorylation of the Pol II C-terminal domain and the actin-Cdk9 interaction promotes chromatin remodeling GeneRIF 71

Kiuchi T., Nagai T., Ohashi K., Mizuno K.

J. Cell Biol. 193:365-380(2011) GeneRIF 71 · Mapped (60)
Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension. GeneRIF 71

Shum M.S., Pasquier E., Po'uha S.T., O'Neill G.M., Chaponnier C., Gunning P.W., Kavallaris M.

FASEB J. 25:4423-4433(2011) GeneRIF 71 · Mapped (28)
knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore which was in part due to a loss of cell polarity GeneRIF 71

Riviere J.B., van Bon B.W., Hoischen A., Kholmanskikh S.S., O'Roak B.J., Gilissen C., Gijsen S., Sullivan C.T., Christian S.L., Abdul-Rahman O.A. et al.

Nat. Genet. 44:440-444(2012) GeneRIF 71 · UniProtKB (2) · Mapped (40)
identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes GeneRIF 71