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1993 1
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2010 4
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2014 4
2015 3
2016 5
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2020 9
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59 results

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Page 1
Nucleotide- and Protein-Dependent Functions of Actg1.
Sundby LJ, Southern WM, Hawbaker KM, Trujillo JM, Perrin BJ, Ervasti JM. Sundby LJ, et al. Mol Biol Cell. 2022 Aug 1;33(9):ar77. doi: 10.1091/mbc.E22-02-0054. Epub 2022 May 20. Mol Biol Cell. 2022. PMID: 35594181 Free PMC article.
Actb(-/-) mice are embryonic lethal and Actb(-/-) cells fail to proliferate, but editing the Actb gene to express gamma-actin (Actb(c-g)) resulted in none of the overt phenotypes of the knockout revealing protein-independent functions for Actb. …
Actb(-/-) mice are embryonic lethal and Actb(-/-) cells fail to proliferate, but editing the Actb gene to express gamma …
Baraitser-Winter Cerebrofrontofacial Syndrome.
Verloes A, Drunat S, Pilz D, Di Donato N. Verloes A, et al. 2015 Nov 19 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Nov 19 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26583190 Free Books & Documents. Review.
Most individuals with BWCFF syndrome reported to date have the disorder as the result of a de novo ACTB or ACTG1 pathogenic variant. If a parent of the proband has the pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic va …
Most individuals with BWCFF syndrome reported to date have the disorder as the result of a de novo ACTB or ACTG1 pathogenic va …
Knockout of ACTB and ACTG1 with CRISPR/Cas9(D10A) Technique Shows that Non-Muscle beta and gamma Actin Are Not Equal in Relation to Human Melanoma Cells' Motility and Focal Adhesion Formation.
Malek N, Mrówczyńska E, Michrowska A, Mazurkiewicz E, Pavlyk I, Mazur AJ. Malek N, et al. Int J Mol Sci. 2020 Apr 15;21(8):2746. doi: 10.3390/ijms21082746. Int J Mol Sci. 2020. PMID: 32326615 Free PMC article.
Here we show, for the first time, a successful inactivation of the ACTB (CRISPR clones with inactivated ACTB, CR-ACTB) and ACTG1 (CRISPR clones with inactivated ACTG1, CR-ACTG1) genes in human melanoma cells (A375) via the RNA-guided D10A …
Here we show, for the first time, a successful inactivation of the ACTB (CRISPR clones with inactivated ACTB, CR-ACTB) …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
BWCFF is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum …
BWCFF is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of …
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240540
Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1-four novel and two previously reported. Only one of seven patients was clinically diagnosed wit …
Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated …
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. Di Donato N, et al. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.
However, several patients with Fryns-Aftimos were considered not to fit into the ACTB and ACTG1 spectrum because of their severe impairment and additional malformations. ...We suggest that mutations in ACTB cause a distinctly more severe phenotype than ACT …
However, several patients with Fryns-Aftimos were considered not to fit into the ACTB and ACTG1 spectrum because of their seve …
Essential nucleotide- and protein-dependent functions of Actb/beta-actin.
Patrinostro X, Roy P, Lindsay A, Chamberlain CM, Sundby LJ, Starker CG, Voytas DF, Ervasti JM, Perrin BJ. Patrinostro X, et al. Proc Natl Acad Sci U S A. 2018 Jul 31;115(31):7973-7978. doi: 10.1073/pnas.1807895115. Epub 2018 Jul 16. Proc Natl Acad Sci U S A. 2018. PMID: 30012594 Free PMC article.
The highly similar cytoplasmic beta- and gamma-actins differ by only four functionally similar amino acids, yet previous in vitro and in vivo data suggest that they support unique functions due to striking phenotypic differences between Actb and Actg1 null mouse and …
The highly similar cytoplasmic beta- and gamma-actins differ by only four functionally similar amino acids, yet previous in vitro and in viv …
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Graziani L, Cinnirella G, Ferradini V, Conte C, Bascio FL, Bengala M, Sangiuolo F, Novelli G. Graziani L, et al. Am J Med Genet A. 2023 Jun;191(6):1565-1569. doi: 10.1002/ajmg.a.63157. Epub 2023 Feb 21. Am J Med Genet A. 2023. PMID: 36810952
Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease (AD) caused by heterozygous variants in ACTB (BRWS1) or ACTG1 (BRWS2) genes. BRWS features developmental delay/intellectual disability of variable degree and craniofacial dysmorphisms. ...Our find …
Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease (AD) caused by heterozygous variants in ACTB (BRWS1) or ACTG …
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M, Kutkowska-Kazmierczak A, Bukowska-Olech E, Jurek M, Kalka E, Guilbride DL, Furmanek MI, Bekiesinska-Figatowska M, Bal J, Gawlinski P. Dawidziuk M, et al. Int J Mol Sci. 2022 Jan 8;23(2):692. doi: 10.3390/ijms23020692. Int J Mol Sci. 2022. PMID: 35054877 Free PMC article.
Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (beta-actin) or ACTG1 (gamma-actin). The resulting actinopathies cause characteristic cerebr …
Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasm …
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. Rivière JB, et al. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Nat Genet. 2012. PMID: 22366783 Free PMC article.
Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified …
Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes …
59 results