| Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B). | Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
He QB, Wu CH, Sun DL, Yuan JY, Hu HY, Yang K, Chen WQ, Yan YS, Yin GY, Zhang J, Li YZ., Free PMC Article | 03/7/2024 |
| METTL3 achieves lipopolysaccharide-induced myocardial injury via m[6]A-dependent stabilization of Myh3 mRNA. | METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA.
Gong C, Wu J, Li H, Luo C, Ji G, Guan X, Liu J, Wang M. | 08/19/2023 |
| Recessive MYH3 variants cause ""Contractures, pterygia, and variable skeletal fusions syndrome 1B"" mimicking Escobar variant multiple pterygium syndrome. | Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. | 06/19/2021 |
| Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). | Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
Zhang J, Chen WQ, Wang SW, Wang SX, Yu M, Guo Q, Yu YD., Free PMC Article | 06/5/2021 |
| Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. | Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB, Kong LC, Zuo RT, Kang QL. | 10/31/2020 |
| Report a case-control study investigating the role of MYH3 among non-syndromic atrial septal defect patients in contributing to septal development. The non-synonymous c. 3574G>A (p.Ala1192Thr) [p = 0.001, OR = 2.30 (1.36-3.87)] located within the tail domain indicated a highly conserved protein region. | Mutations in the tail domain of MYH3 contributes to atrial septal defect.
Maran S, Ee R, Faten SA, Sy Bing C, Khaw KY, Erin Lim SH, Lai KS, Wan Ibrahim WP, Mohd Zain MR, Chan KG, Gan SH, Tan HL., Free PMC Article | 07/11/2020 |
| two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees | [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].
Xu X, Ding L, Li H, Zheng Z, Tang S. | 08/17/2019 |
| Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders. | 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. | 03/2/2019 |
| Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. | Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP., Free PMC Article | 12/22/2018 |
| A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. | A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. | 12/22/2018 |
| Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. | A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D., Free PMC Article | 10/27/2018 |
| our patient is the first reported case of a child with classical FSS, caused by a common MYH3 mutation, who has an unaffected mother with molecularly proven somatic mosaicism, who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing, when a clinically apparent de novo diagnosis is suspected in a child. | Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Hague J, Delon I, Brugger K, Martin H, Abbs S, Park SM. | 10/28/2017 |
| Protein-altering variants of MYH3 were identified in two families with symptoms related to autosomal dominant spondylocarpotarsal synostosis syndrome. | Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.
Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, Ory B, Isidor B, Bahram S., Free PMC Article | 07/15/2017 |
| MYH3 mutations are associated with Freeman-Sheldon Syndrome. | The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
Walklate J, Vera C, Bloemink MJ, Geeves MA, Leinwand L., Free PMC Article | 11/12/2016 |
| developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein | 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., Free PMC Article | 06/28/2016 |
| The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle | The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Racca AW, Beck AE, McMillin MJ, Korte FS, Bamshad MJ, Regnier M., Free PMC Article | 02/6/2016 |
| The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3. | Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ., Free PMC Article | 08/1/2015 |
| Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. | Distal arthrogryposis: clinical and genetic findings.
Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. | 11/17/2012 |
| eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy. | Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.
Rutland CS, Polo-Parada L, Ehler E, Alibhai A, Thorpe A, Suren S, Emes RD, Patel B, Loughna S., Free PMC Article | 11/5/2011 |
| Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). | Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB., Free PMC Article | 10/15/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. | Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB, Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB., Free PMC Articles: PMC2664426, PMC2664426 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesEvaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
Shyy W, Wang K, Sheffield VC, Morcuende JA. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB, Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
Ng D, Hu N, Hu Y, Wang C, Giffen C, Tang ZZ, Han XY, Yang HH, Lee MP, Goldstein AM, Taylor PR. | 09/24/2008 |
| This article reports novel MYH3 mutations associated with distal arthrogryposis and demonstrates myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations. | Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. | 01/21/2010 |
| show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis | Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. | 01/21/2010 |