Associated Papers
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S et al.
Npj Genomic Medicine, 2022
35169139 (PubMed )
Supplement: 41525_2021_273_MOESM2_ESM.pdf
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
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Imafidon ME et al.
Frontiers in Pediatrics, 2021
MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.
Whittle J et al.
Embo Molecular Medicine, 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
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
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
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
Developmental myosins: expression patterns and functional significance.
Schiaffino S et al.
Skeletal Muscle, 2015
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.
Pokrzywa M et al.
Plos One, 2015
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2014
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M et al.
Prenatal Diagnosis, 2007
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
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