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Unsafe Care and Fake News in Freeman-Burian Syndrome.
Clin Case Rep
January 2025
Craig R Dufresne Fairfax Virginia USA.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
View Article and Find Full Text PDFUNC-45 assisted myosin folding depends on a conserved FXHY motif implicated in Freeman Sheldon Syndrome.
Nat Commun
July 2024
Research Institute of Molecular Pathology, Vienna BioCenter, Vienna, Austria.
Myosin motors are critical for diverse motility functions, ranging from cytokinesis and endocytosis to muscle contraction. The UNC-45 chaperone controls myosin function mediating the folding, assembly, and degradation of the muscle protein. Here, we analyze the molecular mechanism of UNC-45 as a hub in myosin quality control.
View Article and Find Full Text PDFBi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Clin Genet
October 2024
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.
Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and multiple pterygium syndrome.
View Article and Find Full Text PDFPrenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report.
Rev Colomb Obstet Ginecol
December 2023
Centro Hospitalario Serena del Mar, Cartagena de Indias (Colombia)..
Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing.
Materials And Methods: A 33-year-old patient currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis.
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Proc Natl Acad Sci U S A
February 2024
BioFrontiers Institute, University of Colorado Boulder, Boulder, CO 80309.
Mutations at a highly conserved homologous residue in three closely related muscle myosins cause three distinct diseases involving muscle defects: R671C in β-cardiac myosin causes hypertrophic cardiomyopathy, R672C and R672H in embryonic skeletal myosin cause Freeman-Sheldon syndrome, and R674Q in perinatal skeletal myosin causes trismus-pseudocamptodactyly syndrome. It is not known whether their effects at the molecular level are similar to one another or correlate with disease phenotype and severity. To this end, we investigated the effects of the homologous mutations on key factors of molecular power production using recombinantly expressed human β, embryonic, and perinatal myosin subfragment-1.
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