| Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. | Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
Duman D, Ramzan M, Subasioglu A, Mutlu A, Peart L, Seyhan S, Guo S, Ila K, Balta B, Kalcioglu MT, Bademci G, Tekin M., | 05/2/2024 |
| Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. | Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium., Free PMC Article | 02/12/2022 |
| Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics. | Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.
Weißenbruch K, Grewe J, Hippler M, Fladung M, Tremmel M, Stricker K, Schwarz US, Bastmeyer M., Free PMC Article | 10/16/2021 |
| Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner. | Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.
Singh RR, McNamara JW, Sadayappan S., Free PMC Article | 08/28/2021 |
| A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss. | A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Wang M, Zhou Y, Zhang F, Fan Z, Bai X, Wang H., Free PMC Article | 10/31/2020 |
| We describe the third family carrying the R941L mutation in MYH14, and demonstrate that the R941L mutation impairs non-muscle myosin protein function. To better understand the molecular basis of the peripheral neuropathy phenotype associated with the R941L mutation, which has been hindered by the fact that NMIIC is largely uncharacterized, we have established a previously unrecognized biological role for NMIIC in mediatin | The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS, Care4Rare Canada Consortium, Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE., Free PMC Article | 12/21/2019 |
| confirm faster ADP release from R694N actomyosin mutant, but is not as dramatic as the difference of kinetics of ADP release in the alpha and beta isoforms. | Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin.
Gargey A, Ge J, Tkachev YV, Nesmelov YE., Free PMC Article | 11/9/2019 |
| a truncation mutation in the cMLCK gene p.Pro639Valfs*15 can be associated with significant impairment of MLC2v phosphorylation and possibly with development of DCM, although a larger study of DCM patients is required to determine the prevalence of this mutation and further strengthen its association with disease development. | Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
Hodatsu A, Fujino N, Uyama Y, Tsukamoto O, Imai-Okazaki A, Yamazaki S, Seguchi O, Konno T, Hayashi K, Kawashiri MA, Asano Y, Kitakaze M, Takashima S, Yamagishi M., Free PMC Article | 05/18/2019 |
| This is the first identification of mutations in MYH14 as a cause of Anorectal malformations. | Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.
Zhu Z, Peng L, Chen G, Jiang W, Shen Z, Du C, Zang R, Su Y, Xie H, Li H, Xia Y, Tang W. | 06/2/2018 |
| By reporting two novel variants of MYH14, we suggest that the present study extends the phenotypic spectrum of autosomal dominant MYH14 variants to include nonsyndromic, severe-to-profound hearing loss with prelingual onset. | Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
Kim BJ, Kim AR, Han JH, Lee C, Oh DY, Choi BY. | 12/23/2017 |
| phosphorylation of human cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice | Constitutive phosphorylation of cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice.
Yuan CC, Muthu P, Kazmierczak K, Liang J, Huang W, Irving TC, Kanashiro-Takeuchi RM, Hare JM, Szczesna-Cordary D., Free PMC Article | 10/31/2015 |
| The data show that although NM IIA and IIB form filaments with similar properties, NM IIC forms filaments that are less well suited to roles such as tension maintenance within the cell. | Characterization of three full-length human nonmuscle myosin II paralogs.
Billington N, Wang A, Mao J, Adelstein RS, Sellers JR., Free PMC Article | 01/25/2014 |
| Results support the hypothesis that there is another DFNA gene upstream of the MYH14 gene and it may be linked to the DFNA4 locus. | Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4.
Zong L, Lu C, Zhao Y, Li Q, Han D, Yang W, Shen Y, Zheng Q, Wang Q., Free PMC Article | 12/14/2013 |
| the alterations of the MYH14 gene may contribute to Myotonic dystrophy type 1 molecular pathogenesis. | Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.
Rinaldi F, Terracciano C, Pisani V, Massa R, Loro E, Vergani L, Di Girolamo S, Angelini C, Gourdon G, Novelli G, Botta A. | 07/28/2012 |
| A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 | A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW., Free PMC Article | 09/24/2011 |
| kinetic and functional characterization of the motor domains of human nonmuscle myosin-2C isoforms | Comparative kinetic and functional characterization of the motor domains of human nonmuscle myosin-2C isoforms.
Heissler SM, Manstein DJ., Free PMC Article | 09/3/2011 |
| data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus | Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ, Richardson GP, Cheatham MA, Smith RJ, Dallos P., Free PMC Article | 05/28/2011 |
| Mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment. | [c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].
Yang R, Li H, Zhan CX, Mao HY, Zhan TL, Zhu ZF, Liu P, Yuan WL, Ke T, Wang Q, Liu MG, Tang ZH. | 09/20/2010 |
| the alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation | An alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation.
Jana SS, Kim KY, Mao J, Kawamoto S, Sellers JR, Adelstein RS., Free PMC Article | 01/21/2010 |
| One SNP in PCDH15 (rs7095441) and two SNPs in MYH14 (rs667907 and rs588035), resulted in significant associations in the Polish sample set and significant interactions with noise exposure level in the Swedish sample set. | Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.
Konings A, Van Laer L, Wiktorek-Smagur A, Rajkowska E, Pawelczyk M, Carlsson PI, Bondeson ML, Dudarewicz A, Vandevelde A, Fransen E, Huyghe J, Borg E, Sliwinska-Kowalska M, Van Camp G. | 01/21/2010 |
| data do not support the involvement of MYH14 in cleft lip and palate among the Italian population | Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.
Martinelli M, Arlotti M, Palmieri A, Scapoli L, Savoia A, Di Stazio M, Pezzetti F, Masiero E, Carinci F, Martinelli M, Arlotti M, Palmieri A, Scapoli L, Savoia A, Di Stazio M, Pezzetti F, Masiero E, Carinci F. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.
Martinelli M, Arlotti M, Palmieri A, Scapoli L, Savoia A, Di Stazio M, Pezzetti F, Masiero E, Carinci F, Martinelli M, Arlotti M, Palmieri A, Scapoli L, Savoia A, Di Stazio M, Pezzetti F, Masiero E, Carinci F. | 05/21/2008 |
| mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4 | Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A., Free PMC Article | 01/21/2010 |
| mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C | Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C.
Kim KY, Kovács M, Kawamoto S, Sellers JR, Adelstein RS. | 01/21/2010 |