PMC Articles for MedGen (Select 346852) - PMC

Select item 63092621.

Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot

Li Wang, Denise Yan, Litao Qin, Tao Li, Hongjian Liu, Wan Li, Rahul Mittal, Feng Yong, Prem Chapagain, Shixiu Liao, Xuezhong Liu

Gene Rep. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Gene Rep. 2018 Jun; 11: 264–269. Published online 2018 Apr 28. doi: 10.1016/j.genrep.2018.04.011

PMCID:: PMC6309262

Article PDF–669K

Select item 61431772.

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval

AT DeWan, AR Parrado, SM Leal

Clin Genet. Author manuscript; available in PMC 2018 Sep 18.

Published in final edited form as: Clin Genet. 2003 Jan; 63(1): 39–45. doi: 10.1034/j.1399-0004.2003.630106.x

PMCID:: PMC6143177

Article PDF–593K

Select item 49684193.

Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure

Lauren Jepsen, Karina A. Kruth, Peter A. Rubenstein, David Sept

Biophys J. 2016 Jul 26; 111(2): 323–332. Published online 2016 Jul 26. doi: 10.1016/j.bpj.2016.06.012

PMCID:: PMC4968419

Article PDF–1.4M

Select item 47360964.

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Yongyi Yuan, Xue Gao, Bangqing Huang, Jingqiao Lu, Guojian Wang, Xi Lin, Yan Qu, Pu Dai

BMC Genet. 2016; 17: 33. Published online 2016 Feb 1. doi: 10.1186/s12863-016-0333-1

PMCID:: PMC4736096

Article PDF–1.9M

Select item 34110635.

Two Deafness-causing (DFNA20/26) Actin Mutations Affect Arp2/3-dependent Actin Regulation

Karina A. Kruth, Peter A. Rubenstein

J Biol Chem. 2012 Aug 3; 287(32): 27217–27226. Published online 2012 Jun 20. doi: 10.1074/jbc.M112.377283

PMCID:: PMC3411063

Article PDF–2.8M

Select item 27147296.

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Matías Morín, Keith E. Bryan, Fernando Mayo-Merino, Richard Goodyear, Ángeles Mencía, Silvia Modamio-Høybjør, Ignacio del Castillo, Jessica M. Cabalka, Guy Richardson, Felipe Moreno, Peter A. Rubenstein, Miguel Ángel Moreno-Pelayo

Hum Mol Genet. 2009 Aug 15; 18(16): 3075–3089. Published online 2009 May 28. doi: 10.1093/hmg/ddp249

PMCID:: PMC2714729

Article PDF–639K

Select item 27093627.

Allele-specific Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction

Keith E. Bryan, Peter A. Rubenstein

J Biol Chem. 2009 Jul 3; 284(27): 18260–18269. Published online 2009 May 6. doi: 10.1074/jbc.M109.015818

PMCID:: PMC2709362

Article PDF–3.0M

Select item 17353378.

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

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

J Med Genet. 2003 Dec; 40(12): 879–884. doi: 10.1136/jmg.40.12.879

PMCID:: PMC1735337

Summary PDF–542K

Select item 11804889.

Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)

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

Am J Hum Genet. 2003 Nov; 73(5): 1082–1091. Published online 2003 Sep 16. doi: 10.1086/379286

PMCID:: PMC1180488

Article PDF–875K

Select item 598395710.

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

Cha Gon Lee, Jahyeon Jang, Hyun-Seok Jin

Mol Med Rep. 2018 Jun; 17(6): 7611–7617. Published online 2018 Mar 29. doi: 10.3892/mmr.2018.8837

PMCID:: PMC5983957

Article PDF–1.3M

Select item 360809611.

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Gibeom Park, Jungsoo Gim, Arheum Kim, Kyu-Hee Han, Hyo-Sang Kim, Seung-Ha Oh, Taesung Park, Woong-Yang Park, ByungYoon Choi

BMC Genomics. 2013; 14: 191. Published online 2013 Mar 18. doi: 10.1186/1471-2164-14-191

PMCID:: PMC3608096

Article PDF–1.6M

Select item 877615512.

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski

Int J Mol Sci. 2022 Jan; 23(2): 692. Published online 2022 Jan 8. doi: 10.3390/ijms23020692

PMCID:: PMC8776155

Article PDF–1.1M

Select item 854419713.

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina

Audiol Res. 2021 Dec; 11(4): 582–593. Published online 2021 Oct 18. doi: 10.3390/audiolres11040052

PMCID:: PMC8544197

Article PDF–590K

Select item 892401114.

Kyung Seok Oh, Daniel Walls, Sun Young Joo, Jung Ah Kim, Jee Eun Yoo, Young Ik Koh, Da Hye Kim, John Hoon Rim, Hye Ji Choi, Hye-Youn Kim, Seyoung Yu, Richard J. Smith, Jae Young Choi, Heon Yung Gee, Jinsei Jung

Hum Genet. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 889–901. Published online 2021 Sep 16. doi: 10.1007/s00439-021-02368-y

PMCID:: PMC8924011

Article PDF–1.4M

Select item 853594015.

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Ken Hiramatsu, Shin-ya Nishio, Shin-ichiro Kitajiri, Tomohiro Kitano, Hideaki Moteki, Shin-ichi Usami, on behalf of the Deafness Gene Study Consortium

Genes (Basel) 2021 Oct; 12(10): 1623. Published online 2021 Oct 15. doi: 10.3390/genes12101623

PMCID:: PMC8535940

Article PDF–1.1M

Select item 401623116.

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

Byung Yoon Choi, Jiwoong Kim, Juyong Chung, Ah Reum Kim, Sue Jean Mun, Seong Il Kang, Sang-Heon Lee, Namshin Kim, Seung-Ha Oh

PLoS One. 2014; 9(5): e97040. Published online 2014 May 9. doi: 10.1371/journal.pone.0097040

PMCID:: PMC4016231

Article PDF–830K

Select item 332666517.

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith, Miguel A. Moreno-Pelayo

Hum Mutat. Author manuscript; available in PMC 2012 Apr 16.

Published in final edited form as: Hum Mutat. 2011 Jul; 32(7): 825–834. Published online 2011 Jun 7. doi: 10.1002/humu.21512

PMCID:: PMC3326665

Article PDF–1.8M

Select item 137704618.

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

P M Kelley, D J Harris, B C Comer, J W Askew, T Fowler, S D Smith, W J Kimberling

Am J Hum Genet. 1998 Apr; 62(4): 792–799. doi: 10.1086/301807

PMCID:: PMC1377046

Summary PDF–492K

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