ArticleScientific reports2017
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Non-Syndromic or Anomaly-Associated Genes (MYH3, GREM1, IRF6) and Their Proteins in Unilateral Right Cleft Tissue.International journal of molecular sciences · 2026Article
- Preoperative halo traction for rigid spinal deformity in contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B: a case report and literature review.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Review
- Mechanism of Myh3 gene regulation of intramuscular fat content in Beijing black pigs via the MAPK signaling pathway.BMC genomics · 2025Article
- The Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Year-Old Affected by Klippel-Feil Syndrome Related to anJournal of personalized medicine · 2024Article
- NovelJournal of pediatric genetics · 2024Article
- Unraveling the Link of Altered TGFβ Signaling with Scoliotic Vertebral Malformations in Osteogenesis Imperfecta: A Comprehensive Review.Journal of clinical medicine · 2024Review
- Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).Molecular genetics & genomic medicine · 2024Article
- Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.Nature communications · 2024Article
- A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Genes · 2024Article
- Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.EMBO molecular medicine · 2023Article
- Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle.Genetics, selection, evolution : GSE · 2022Article
- The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis.Cell regeneration (London, England) · 2022Article
- Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.NPJ genomic medicine · 2022Article
- Article
- Review
- Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.Children (Basel, Switzerland) · 2021Article
- Distinctive gene expression patterns and imprinting signatures revealed in reciprocal crosses between cattle sub-species.BMC genomics · 2021Article
- MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.EMBO molecular medicine · 2020Article
- X-ray Crystallographic and Molecular Dynamic Analyses of Drosophila melanogaster Embryonic Muscle Myosin Define Domains Responsible for Isoform-Specific Properties.Journal of molecular biology · 2020Article
- Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.Frontiers in physiology · 2020Review
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15 authors.
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Abstract
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin. Cells transfected with the MYH3 missense mutations had reduced TGFβ signaling, revealing a regulatory role for embryonic myosin in the TGFβ signaling pathway. In wild-type mice, there was persistent postnatal expression of embryonic myosin in the small muscles joining the neural arches of the spine suggesting that loss of myosin function in these muscles contribute to the disease. 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.
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