Associated Papers
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B et al.
Clinical Genetics, 2024
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Biorxiv : the Preprint Server for Biology, 2023
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S et al.
Npj Genomic Medicine, 2022
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
Whittle J et al.
Genes, 2021
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.
Bell KM et al.
Biophysical Journal, 2021
MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.
Whittle J et al.
Embo Molecular Medicine, 2020
Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.
Guo Y et al.
Skeletal Muscle, 2020
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB et al.
Molecular Medicine Reports, 2020
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Ferretti L et al.
European Journal of Medical Genetics, 2019
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S et al.
Developmental Biology, 2019
Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome.
Rao DS et al.
Molecular Biology of the Cell, 2019
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR et al.
American Journal of Human Genetics, 2018
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J et al.
Scientific Reports, 2017
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.
Ali AM et al.
Case Reports in Genetics, 2017
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
Walklate J et al.
The Journal of Biological Chemistry, 2016
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Drury S et al.
Prenatal Diagnosis, 2015
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Racca AW et al.
Human Molecular Genetics, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX et al.
American Journal of Human Genetics, 2015
Developmental myosins: expression patterns and functional significance.
Schiaffino S et al.
Skeletal Muscle, 2015
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2014
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM et al.
The Journal of Bone and Joint Surgery. American Volume, 2011
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
Al-Haggar M et al.
Indian Journal of Pediatrics, 2011
Targeted capture and massively parallel sequencing of 12 human exomes.
Ng SB et al.
Nature, 2009
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM et al.
Nature Genetics, 2006
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N et al.
European Journal of Medical Genetics, 0