The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading to overcontraction of the hands, feet, and orofacial muscles and other joints of the body. Availability of human embryonic muscle tissue has been a limiting factor in investigating the properties of this isoform and its mutations. Using a recombinant expression system, we have studied homogeneous samples of human motors for the WT and three of the most common FSS mutants: R672H, R672C, and T178I. Our data suggest that the WT embryonic myosin motor is similar in c...
More than 30 missense mutations in the beta-cardiac myosin heavy chain gene have been shown to be re...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
Myosin is vital for body movement and heart contractility. Mutations in MYH7, encoding slow/β-cardia...
The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after ...
Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. club...
Includes bibliographical references (pages 38-42).Myosin, the molecular motor, interacts with actin ...
Biophysical and biochemical imbalance of mechanisms relevant to muscle function, can result in morph...
The myosin heavy chain composition of human heart and skeletal muscles is dynamic in health and dise...
Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into m...
The discovery that mutations in myosin and actin genes, together with mutations in the other compone...
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle, and important fo...
Over 1000 disease-causing missense mutations have been found in human β-cardiac, α-cardiac, embryoni...
Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into m...
By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy...
The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contra...
More than 30 missense mutations in the beta-cardiac myosin heavy chain gene have been shown to be re...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
Myosin is vital for body movement and heart contractility. Mutations in MYH7, encoding slow/β-cardia...
The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after ...
Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. club...
Includes bibliographical references (pages 38-42).Myosin, the molecular motor, interacts with actin ...
Biophysical and biochemical imbalance of mechanisms relevant to muscle function, can result in morph...
The myosin heavy chain composition of human heart and skeletal muscles is dynamic in health and dise...
Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into m...
The discovery that mutations in myosin and actin genes, together with mutations in the other compone...
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle, and important fo...
Over 1000 disease-causing missense mutations have been found in human β-cardiac, α-cardiac, embryoni...
Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into m...
By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy...
The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contra...
More than 30 missense mutations in the beta-cardiac myosin heavy chain gene have been shown to be re...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
Myosin is vital for body movement and heart contractility. Mutations in MYH7, encoding slow/β-cardia...