Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: ACTB: 1090G>A; Glu364Lys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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TK216 targets microtubules in Ewing sarcoma cells.

Cell Chemical Biology

Povedano, Juan Manuel JM; Li, Vicky V; Lake, Katherine E KE; Bai, Xin X; Rallabandi, Rameshu R; Kim, Jiwoong J; Xie, Yang Y; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2022-08-18

Variant appearance in text: ACTB: 1090G>A; Glu364Lys

PubMed Link: 35803262

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

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Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting-Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases.

Frontiers In Immunology

Sprenkeler, Evelien G G EGG; Guenther, Carla C; Faisal, Imrul I; Kuijpers, Taco W TW; Fagerholm, Susanna C SC

Publication Date: 2021

Variant appearance in text: ACTB: E364K

PubMed Link: 33692789

Variant Present in the following documents:

• fimmu-12-615477.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ACTB: E364K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Cellular Membranes, a Versatile Adaptive Composite Material.

Frontiers In Cell And Developmental Biology

Lamparter, Lucas L; Galic, Milos M

Publication Date: 2020

Variant appearance in text: ACTB: E364k

PubMed Link: 32850810

Variant Present in the following documents:

• fcell-08-00684.pdf

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Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.

International Journal Of Molecular Sciences

Witjes, Laura L; Van Troys, Marleen M; Verhasselt, Bruno B; Ampe, Christophe C

Publication Date: 2020-04-27

Variant appearance in text: ACTB: E364K

PubMed Link: 32349449

Variant Present in the following documents:

• ijms-21-03093.pdf

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

Movement Disorders Clinical Practice

Freitas, Julian Letícia JL; Vale, Thiago Cardoso TC; Barsottini, Orlando G P OGP; Pedroso, José Luiz JL

Publication Date: 2020-01

Variant appearance in text: ACTB: E364K

PubMed Link: 31970217

Variant Present in the following documents:

• Main text

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

Human Mutation

Baumann, Matthias M; Beaver, Erin M EM; Palomares-Bralo, María M; Santos-Simarro, Fernando F; Holzer, Peter P; Povysil, Gundula G; Müller, Thomas T; Valovka, Taras T; Janecke, Andreas R AR

Publication Date: 2020-04

Variant appearance in text: ACTB: Glu364Lys

PubMed Link: 31898838

Variant Present in the following documents:

• Main text
• HUMU-41-753.pdf

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Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Yang, Chenxi C; Pan, Jianyan J; Linpeng, Siyuan S; Li, Zhuo Z; Tan, Hu H; Wu, Lingqian L

Publication Date: 2019-10-11

Variant appearance in text: ACTB: 1090G>A

PubMed Link: 31603145

Variant Present in the following documents:

• Main text

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs368352689

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Molecular Syndromology

Sandestig, Anna A; Green, Anna A; Jonasson, Jon J; Vogt, Hartmut H; Wahlström, Johan J; Pepler, Alexander A; Ellnebo, Katarina K; Biskup, Saskia S; Stefanova, Margarita M

Publication Date: 2019-01

Variant appearance in text: ACTB: Glu364Lys

PubMed Link: 30733661

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Nature Communications

Latham, Sharissa L SL; Ehmke, Nadja N; Reinke, Patrick Y A PYA; Taft, Manuel H MH; Eicke, Dorothee D; Reindl, Theresia T; Stenzel, Werner W; Lyons, Michael J MJ; Friez, Michael J MJ; Lee, Jennifer A JA; Hecker, Ramona R; Frühwald, Michael C MC; Becker, Kerstin K; Neuhann, Teresa M TM; Horn, Denise D; Schrock, Evelin E; Niehaus, Indra I; Sarnow, Katharina K; Grützmann, Konrad K; Gawehn, Luzie L; Klink, Barbara B; Rump, Andreas A; Chaponnier, Christine C; Figueiredo, Constanca C; Knöfler, Ralf R; Manstein, Dietmar J DJ; Di Donato, Nataliya N

Publication Date: 2018-10-12

Variant appearance in text: ACTB: 1090G>A; Glu364Lys

PubMed Link: 30315159

Variant Present in the following documents:

• Main text
• 41467_2018_6713_MOESM1_ESM.pdf
• 41467_2018_6713_MOESM2_ESM.pdf
• 41467_2018_6713_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_Article_6713.pdf

View BVdb publication page

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

Journal Of Neurodevelopmental Disorders

Skogseid, Inger Marie IM; Røsby, Oddveig O; Konglund, Ane A; Connelly, James P JP; Nedregaard, Bård B; Jablonski, Greg Eigner GE; Kvernmo, Nadja N; Stray-Pedersen, Asbjørg A; Glover, Joel C JC

Publication Date: 2018-05-22

Variant appearance in text: ACTB: E364K

PubMed Link: 29788902

Variant Present in the following documents:

• 11689_2018_Article_9235.pdf

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

Case Reports In Genetics

Conboy, Erin E; Vairo, Filippo F; Waggoner, Darrel D; Ober, Carole C; Das, Soma S; Dhamija, Radhika R; Klee, Eric W EW; Pichurin, Pavel P

Publication Date: 2017

Variant appearance in text: ACTB: E364K

PubMed Link: 28487785

Variant Present in the following documents:

• CRIG2017-9184265.pdf

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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

European Journal Of Human Genetics : Ejhg

Verloes, Alain A; Di Donato, Nataliya N; Masliah-Planchon, Julien J; Jongmans, Marjolijn M; Abdul-Raman, Omar A OA; Albrecht, Beate B; Allanson, Judith J; Brunner, Han H; Bertola, Debora D; Chassaing, Nicolas N; David, Albert A; Devriendt, Koen K; Eftekhari, Pirayeh P; Drouin-Garraud, Valérie V; Faravelli, Francesca F; Faivre, Laurence L; Giuliano, Fabienne F; Guion Almeida, Leina L; Juncos, Jorge J; Kempers, Marlies M; Eker, Hatice Koçak HK; Lacombe, Didier D; Lin, Angela A; Mancini, Grazia G; Melis, Daniela D; Lourenço, Charles Marques CM; Siu, Victoria Mok VM; Morin, Gilles G; Nezarati, Marjan M; Nowaczyk, Malgorzata J M MJ; Ramer, Jeanette C JC; Osimani, Sara S; Philip, Nicole N; Pierpont, Mary Ella ME; Procaccio, Vincent V; Roseli, Zeichi-Seide ZS; Rossi, Massimiliano M; Rusu, Cristina C; Sznajer, Yves Y; Templin, Ludivine L; Uliana, Vera V; Klaus, Mirjam M; Van Bon, Bregje B; Van Ravenswaaij, Conny C; Wainer, Bruce B; Fry, Andrew E AE; Rump, Andreas A; Hoischen, Alexander A; Drunat, Séverine S; Rivière, Jean-Baptiste JB; Dobyns, William B WB; Pilz, Daniela T DT

Publication Date: 2015-03

Variant appearance in text: ACTB: Glu364Lys

PubMed Link: 25052316

Variant Present in the following documents:

• Main text

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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Human Mutation

Johnston, Jennifer J JJ; Wen, Kuo-Kuang KK; Keppler-Noreuil, Kim K; McKane, Melissa M; Maiers, Jessica L JL; Greiner, Alexander A; Sapp, Julie C JC; , ; Demali, Kris A KA; Rubenstein, Peter A PA; Biesecker, Leslie G LG

Publication Date: 2013-09

Variant appearance in text: ACTB: E364K

PubMed Link: 23649928

Variant Present in the following documents:

• Main text

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Nature Genetics

Rivière, Jean-Baptiste JB; van Bon, Bregje W M BW; Hoischen, Alexander A; Kholmanskikh, Stanislav S SS; O'Roak, Brian J BJ; Gilissen, Christian C; Gijsen, Sabine S; Sullivan, Christopher T CT; Christian, Susan L SL; Abdul-Rahman, Omar A OA; Atkin, Joan F JF; Chassaing, Nicolas N; Drouin-Garraud, Valerie V; Fry, Andrew E AE; Fryns, Jean-Pierre JP; Gripp, Karen W KW; Kempers, Marlies M; Kleefstra, Tjitske T; Mancini, Grazia M S GM; Nowaczyk, Małgorzata J M MJ; van Ravenswaaij-Arts, Conny M A CM; Roscioli, Tony T; Marble, Michael M; Rosenfeld, Jill A JA; Siu, Victoria M VM; de Vries, Bert B A BB; Shendure, Jay J; Verloes, Alain A; Veltman, Joris A JA; Brunner, Han G HG; Ross, M Elizabeth ME; Pilz, Daniela T DT; Dobyns, William B WB

Publication Date: 2012-02-26

Variant appearance in text: ACTB: 1090G>A; Glu364Lys

PubMed Link: 22366783

Variant Present in the following documents:

• NIHMS474071-supplement-1.pdf

View BVdb publication page

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Actin in hair cells and hearing loss.

Hearing Research

Drummond, Meghan C MC; Belyantseva, Inna A IA; Friderici, Karen H KH; Friedman, Thomas B TB

Publication Date: 2012-06

Variant appearance in text: ACTB: E364K

PubMed Link: 22200607

Variant Present in the following documents:

• Main text

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