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: ACTG1: 833C>T; Thr278Ile
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
International Journal Of Molecular Sciences
Dawidziuk, Mateusz M; Kutkowska-Kazmierczak, Anna A; Bukowska-Olech, Ewelina E; Jurek, Marta M; Kalka, Ewa E; Guilbride, Dorothy Lys DL; Furmanek, Mariusz Ireneusz MI; Bekiesinska-Figatowska, Monika M; Bal, Jerzy J; Gawlinski, Pawel P
Publication Date: 2022-01-08
Variant appearance in text: ACTG1: 833C>T; Thr278Ile
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
International Journal Of Molecular Sciences
Dawidziuk, Mateusz M; Kutkowska-Kazmierczak, Anna A; Bukowska-Olech, Ewelina E; Jurek, Marta M; Kalka, Ewa E; Guilbride, Dorothy Lys DL; Furmanek, Mariusz Ireneusz MI; Bekiesinska-Figatowska, Monika M; Bal, Jerzy J; Gawlinski, Pawel P
Publication Date: 2022-01-08
Variant appearance in text: ACTG1: 833C>T; Thr278Ile
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
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Plos One
Müller, Mirco M; Diensthuber, Ralph P RP; Chizhov, Igor I; Claus, Peter P; Heissler, Sarah M SM; Preller, Matthias M; Taft, Manuel H MH; Manstein, Dietmar J DJ
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: ACTG1: 833C>T; Thr278Ile
Edgetic perturbation models of human inherited disorders.
Molecular Systems Biology
Zhong, Quan Q; Simonis, Nicolas N; Li, Qian-Ru QR; Charloteaux, Benoit B; Heuze, Fabien F; Klitgord, Niels N; Tam, Stanley S; Yu, Haiyuan H; Venkatesan, Kavitha K; Mou, Danny D; Swearingen, Venus V; Yildirim, Muhammed A MA; Yan, Han H; Dricot, Amélie A; Szeto, David D; Lin, Chenwei C; Hao, Tong T; Fan, Changyu C; Milstein, Stuart S; Dupuy, Denis D; Brasseur, Robert R; Hill, David E DE; Cusick, Michael E ME; Vidal, Marc M
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
Human Molecular Genetics
Morín, Matías M; Bryan, Keith E KE; Mayo-Merino, Fernando F; Goodyear, Richard R; Mencía, Angeles A; Modamio-Høybjør, Silvia S; del Castillo, Ignacio I; Cabalka, Jessica M JM; Richardson, Guy G; Moreno, Felipe F; Rubenstein, Peter A PA; Moreno-Pelayo, Miguel Angel MA