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Research progress of myosin heavy chain genes in human genetic diseases.
He YM, Gu MM. He YM, et al. Yi Chuan. 2017 Oct 20;39(10):877-887. doi: 10.16288/j.yczz.17-090. Yi Chuan. 2017. PMID: 29070483 Review.
Mutations in MYH2 are associated with skeletal myopathies, characterized by ophthalmoplegia. Mutations in MYH3 and MYH8 are associated with distal arthrogryposis syndromes. Mutations in MYH7 are associated with not only skeletal muscle diseases, such as Laing distal myopat …
Mutations in MYH2 are associated with skeletal myopathies, characterized by ophthalmoplegia. Mutations in MYH3 and MYH8 are associate …
Genetic Factors Involved in Mandibular Prognathism.
Doraczynska-Kowalik A, Nelke KH, Pawlak W, Sasiadek MM, Gerber H. Doraczynska-Kowalik A, et al. J Craniofac Surg. 2017 Jul;28(5):e422-e431. doi: 10.1097/SCS.0000000000003627. J Craniofac Surg. 2017. PMID: 28570402 Review.
The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, FGFR2, TBX5, ALPL, HSPG2, EVC, EVC2, the HoxC gene cluster, insulin-like growth factor 1, PLXNA2, SSX2IP, TGFB3, LTBP2, MMP13/CLG3, KRT7, and …
The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, F …
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.
Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and …
Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal r …
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.
Pokrzywa M, Norum M, Lengqvist J, Ghobadpour M, Abdul-Hussein S, Moslemi AR, Tajsharghi H. Pokrzywa M, et al. PLoS One. 2015 Nov 6;10(11):e0142094. doi: 10.1371/journal.pone.0142094. eCollection 2015. PLoS One. 2015. PMID: 26544689 Free PMC article.
Lack of embryonic muscle biopsy material and suitable animal models has hindered study of the pathomechanisms linking mutations in MYH3 to prenatal myopathy. METHODS AND RESULTS: We determined the pathomechanisms of developmental myopathy caused by recurrent p.Thr178Ile …
Lack of embryonic muscle biopsy material and suitable animal models has hindered study of the pathomechanisms linking mutations in MYH3 …
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in MYH3 …
This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional f …
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
Kamien B, Clayton JS, Lee HS, Abeysuriya D, McNamara E, Martinovic J, Gonzales M, Melki J, Ravenscroft G. Kamien B, et al. Neuromuscul Disord. 2022 May;32(5):445-449. doi: 10.1016/j.nmd.2022.03.007. Epub 2022 Mar 27. Neuromuscul Disord. 2022. PMID: 35484034
Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A an …
Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-alleli …
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S, Kumar P, Verma A, Maiti TK, Mathew SJ. Das S, et al. Dev Biol. 2019 May 15;449(2):90-98. doi: 10.1016/j.ydbio.2019.02.017. Epub 2019 Feb 28. Dev Biol. 2019. PMID: 30826400 Free PMC article.
Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). ...
Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal m …
Expression and identification of 10 sarcomeric MyHC isoforms in human skeletal muscles of different embryological origin. Diversity and similarity in mammalian species.
Mascarello F, Toniolo L, Cancellara P, Reggiani C, Maccatrozzo L. Mascarello F, et al. Ann Anat. 2016 Sep;207:9-20. doi: 10.1016/j.aanat.2016.02.007. Epub 2016 Mar 9. Ann Anat. 2016. PMID: 26970499
Specific patterns of expression of the following genes MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH13, MYH14/7b and MYH15 were demonstrated in various muscle samples. ...
Specific patterns of expression of the following genes MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH13, MYH14/7b and MYH15 were demon …
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Yang Y, Zhang W, Wang H. Yang Y, et al. Prenat Diagn. 2023 Oct;43(11):1467-1471. doi: 10.1002/pd.6440. Epub 2023 Sep 13. Prenat Diagn. 2023. PMID: 37705160
The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. ...This study expands the spectrum of MYH3 variants and supports the domain-specific genotype-phenotype correlation of MYH3....
The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. ...This study exp …
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y, Kang QL, Zhang ZL. Xu Y, et al. Neuromuscul Disord. 2018 May;28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. Neuromuscul Disord. 2018. PMID: 29625835
A novel missense mutation in exon 13 of the MYH3 gene, c.1160A > G (p.Tyr387Cys), was identified in the proband and his father through whole-exome sequencing. ...This study increases the mutational spectrum in MYH3 and aids genetic counseling and prenatal diagnos …
A novel missense mutation in exon 13 of the MYH3 gene, c.1160A > G (p.Tyr387Cys), was identified in the proband and his father thr …
41 results