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Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

https://doi.org/10.1038/ng1775
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/archpedi.1992.02160240102031openalex-snapshot
Principles and Practice of Medical Genetics
inferredcites →https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<277::aid-ajmg6>3.0.co;2-mopenalex-snapshot
A revised and extended classification of the distal arthrogryposes
inferredcites →https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<282::aid-ajmg7>3.0.co;2-ropenalex-snapshot
Distal arthrogryposis type 1: Clinical analysis of a large kindred
inferredcites →https://doi.org/10.1002/ajmg.1320110208openalex-snapshot
The distal arthrogryposes: Delineation of new entities – review and nosologic discussion
inferredcites →https://doi.org/10.1002/ana.10693openalex-snapshot
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
inferredcites →https://doi.org/10.1002/ana.20157openalex-snapshot
Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations
inferredcites →https://doi.org/10.1002/j.1460-2075.1996.tb00822.xopenalex-snapshot
Myosin heavy chain isoforms regulate muscle function but not myofibril assembly.
inferredcites →https://doi.org/10.1006/jmbi.1994.0070openalex-snapshot
An Atomic Model of the Unregulated Thin Filament Obtained by X-ray Fiber Diffraction on Oriented Actin-Tropomyosin Gels
inferredcites →https://doi.org/10.1016/0014-5793(89)81710-7openalex-snapshot
Human embryonic myosin heavy chain cDNA
inferredcites →https://doi.org/10.1016/0022-2836(91)90883-8openalex-snapshot
Database algorithm for generating protein backbone and side-chain co-ordinates from a Cα trace
inferredcites →https://doi.org/10.1016/j.nmd.2004.03.006openalex-snapshot
Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
inferredcites →https://doi.org/10.1016/s0007-1226(63)80095-8openalex-snapshot
The “whistling face” characteristic in a compound cranio-facio-corporal syndrome
inferredcites →https://doi.org/10.1016/s0092-8674(01)00242-2openalex-snapshot
The Genetic Basis for Cardiomyopathy
inferredcites →https://doi.org/10.1038/nsmb908openalex-snapshot
The structural basis of blebbistatin inhibition and specificity for myosin II
inferredcites →https://doi.org/10.1056/nejmoa040584openalex-snapshot
Mutation of Perinatal Myosin Heavy Chain Associated with a Carney Complex Variant
inferredcites →https://doi.org/10.1073/pnas.250289597openalex-snapshot
Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene
inferredcites →https://doi.org/10.1074/jbc.m008379200openalex-snapshot
Alternative Exon-encoded Regions of Drosophila Myosin Heavy Chain Modulate ATPase Rates and Actin Sliding Velocity
inferredcites →https://doi.org/10.1086/368294openalex-snapshot
Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
inferredcites →https://doi.org/10.1086/376418openalex-snapshot
Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B
inferredcites →https://doi.org/10.1086/424760openalex-snapshot
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
inferredcites →https://doi.org/10.1093/nar/17.15.6167openalex-snapshot
Expression and DNA sequence analysis of a human embryonic skeletal muscle mvosin heavy chain gene
inferredcites →https://doi.org/10.1107/s0108767390010224openalex-snapshot
Improved methods for building protein models in electron density maps and the location of errors in these models
inferredcites →https://doi.org/10.1126/science.8316857openalex-snapshot
Three-dimensional structure of myosin subfragment-1: a molecular motor
inferredcites →https://doi.org/10.1126/science.8316858openalex-snapshot
Structure of the actin-myosin complex and its implications for muscle contraction
inferredcites →https://doi.org/10.1136/adc.13.75.277openalex-snapshot
Cranio-carpo-tarsal dystrophy
inferredcites →https://doi.org/10.1136/adc.59.2.192openalex-snapshot
Principles and Practice of Medical Genetics
inferredcites →https://doi.org/10.1161/01.cir.0000066323.15244.54openalex-snapshot
Hypertrophic Cardiomyopathy
inferredcites →https://doi.org/10.1542/peds.2005-1219openalex-snapshot
Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4349476openalex-extracted
inferred← citeshttps://doi.org/10.1001/archneur.65.8.1083openalex-snapshot
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
inferred← citeshttps://doi.org/10.1002/9780470015902.a0025299openalex-snapshot
Molecular Genetics of Myopathies Caused by β‐Tropomyosin Mutations
inferred← citeshttps://doi.org/10.1002/9781118635469.ch16openalex-snapshot
Myosins
inferred← citeshttps://doi.org/10.1002/ajmg.a.31495openalex-snapshot
Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
inferred← citeshttps://doi.org/10.1002/ajmg.a.31528openalex-snapshot
A new distal arthrogryposis syndrome characterized by plantar flexion contractures
inferred← citeshttps://doi.org/10.1002/ajmg.a.31648openalex-snapshot
Pulmonary disease is a component of distal arthrogryposis type 5
inferred← citeshttps://doi.org/10.1002/ajmg.a.32668openalex-snapshot
Juvenile macular dystrophy and forearm pronation‐supination restriction presenting with features of distal arthrogryposis type 5
inferred← citeshttps://doi.org/10.1002/ajmg.a.35809openalex-snapshot
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B
inferred← citeshttps://doi.org/10.1002/ajmg.a.36250openalex-snapshot
Biallelic SEMA3A defects cause a novel type of syndromic short stature
inferred← citeshttps://doi.org/10.1002/ajmg.a.36342openalex-snapshot
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1
inferred← citeshttps://doi.org/10.1002/ajmg.a.36762openalex-snapshot
Genotype‐phenotype relationships in Freeman–Sheldon syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.36881openalex-snapshot
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation
inferred← citeshttps://doi.org/10.1002/ajmg.a.37391openalex-snapshot
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1
inferred← citeshttps://doi.org/10.1002/ajmg.a.37631openalex-snapshot
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation
inferred← citeshttps://doi.org/10.1002/ajmg.a.38593openalex-snapshot
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions
inferred← citeshttps://doi.org/10.1002/ajmg.a.61836openalex-snapshot
Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B ” mimicking Escobar variant multiple pterygium syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31890openalex-snapshot
Northwest Indigenous Art and the Inspiring Spirits
inferred← citeshttps://doi.org/10.1002/ajum.70015openalex-snapshot
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3‐Related
inferred← citeshttps://doi.org/10.1002/ccr3.70078openalex-snapshot
Unsafe Care and Fake News in Freeman–Burian Syndrome
inferred← citeshttps://doi.org/10.1002/cphy.c160033openalex-snapshot
Overview of the Muscle Cytoskeleton
inferred← citeshttps://doi.org/10.1002/cphy.c170023openalex-snapshot
Thick Filament Protein Network, Functions, and Disease Association
inferred← citeshttps://doi.org/10.1002/j.2040-4603.2017.tb00766.xopenalex-snapshot
Overview of the Muscle Cytoskeleton
inferred← citeshttps://doi.org/10.1002/j.2040-4603.2018.tb00019.xopenalex-snapshot
Thick Filament Protein Network, Functions, and Disease Association
inferred← citeshttps://doi.org/10.1002/mgg3.1440openalex-snapshot
Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
inferred← citeshttps://doi.org/10.1002/mgg3.2401openalex-snapshot
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B)
inferred← citeshttps://doi.org/10.1002/pd.1705openalex-snapshot
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B
inferred← citeshttps://doi.org/10.1002/pd.4011openalex-snapshot
Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis
inferred← citeshttps://doi.org/10.1002/pd.5505openalex-snapshot
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and management
inferred← citeshttps://doi.org/10.1002/pd.6440openalex-snapshot
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
inferred← citeshttps://doi.org/10.1007/978-0-387-84847-1_4openalex-snapshot
Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin
inferred← citeshttps://doi.org/10.1007/978-0-387-84847-1_7openalex-snapshot
Thick Filament Diseases
inferred← citeshttps://doi.org/10.1007/978-1-4419-1795-9_135openalex-snapshot
Growth in Distal Arthrogryposes
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_16openalex-snapshot
Arthrogryposis Multiplex Congenita
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_233openalex-snapshot
Trismus-Pseudocamptodactyly Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_46openalex-snapshot
Clubfoot
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_98openalex-snapshot
Freeman–Sheldon Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_16-2openalex-snapshot
Arthrogryposis Multiplex Congenita
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_233-2openalex-snapshot
Trismus-Pseudocamptodactyly Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_46-2openalex-snapshot
Clubfoot
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_98-2openalex-snapshot
Freeman-Sheldon Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-4899-7504-1_18openalex-snapshot
Congenital Clasped Thumb
inferred← citeshttps://doi.org/10.1007/978-1-4899-7504-1_23openalex-snapshot
Arthrogryposis
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_16openalex-snapshot
Arthrogryposis Multiplex Congenita
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_233openalex-snapshot
Trismus-Pseudocamptodactyly Syndrome
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_46openalex-snapshot
Clubfoot
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_98openalex-snapshot
Freeman-Sheldon Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-030-38062-5_12openalex-snapshot
Myosins and Disease
inferred← citeshttps://doi.org/10.1007/978-3-030-64159-7_19openalex-snapshot
Congenital Clasped Thumb
inferred← citeshttps://doi.org/10.1007/978-3-030-64159-7_24openalex-snapshot
Arthrogryposis
inferred← citeshttps://doi.org/10.1007/978-3-030-77779-1_7openalex-snapshot
Motor Proteins and Spermatogenesis
inferred← citeshttps://doi.org/10.1007/978-3-319-66816-1_1689-1openalex-snapshot
Adducted Thumb Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-540-95928-1_59openalex-snapshot
Freeman–Sheldon Syndrome
inferred← citeshttps://doi.org/10.1007/s00018-012-1131-1openalex-snapshot
Heavy and light roles: myosin in the morphogenesis of the heart
inferred← citeshttps://doi.org/10.1007/s00335-015-9558-yopenalex-snapshot
Genome-wide association analysis reveals genetic loci and candidate genes for meat quality traits in Chinese Laiwu pigs
inferred← citeshttps://doi.org/10.1007/s00401-012-1024-2openalex-snapshot
Myosinopathies: pathology and mechanisms
inferred← citeshttps://doi.org/10.1007/s00401-016-1554-0openalex-snapshot
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis
inferred← citeshttps://doi.org/10.1007/s00432-024-05754-xopenalex-snapshot
Risk assessment model based on nucleotide metabolism-related genes highlights SLC27A2 as a potential therapeutic target in breast cancer
inferred← citeshttps://doi.org/10.1007/s00439-021-02406-9openalex-snapshot
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
inferred← citeshttps://doi.org/10.1007/s00439-021-02412-xopenalex-snapshot
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
inferred← citeshttps://doi.org/10.1007/s00467-017-3755-8openalex-snapshot
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases
inferred← citeshttps://doi.org/10.1007/s11033-012-2076-zopenalex-snapshot
Single nucleotide polymorphisms, haplotypes and combined genotypes in MYH3 gene and their associations with growth and carcass traits in Qinchuan cattle
inferred← citeshttps://doi.org/10.1007/s11033-013-2665-5openalex-snapshot
Genetic diversity of MYH 3 gene associated with growth and carcass traits in Chinese Qinchuan cattle
inferred← citeshttps://doi.org/10.1007/s11832-015-0689-1openalex-snapshot
AMC: Amyoplasia and distal arthrogryposis
inferred← citeshttps://doi.org/10.1007/s11999-008-0694-5openalex-snapshot
Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot
inferred← citeshttps://doi.org/10.1007/s11999-009-0734-9openalex-snapshot
Update on Clubfoot: Etiology and Treatment
inferred← citeshttps://doi.org/10.1007/s12098-009-0227-6openalex-snapshot
Freeman-Sheldon syndrome-prenatal and postnatal diagnosis
inferred← citeshttps://doi.org/10.1007/s12098-010-0230-yopenalex-snapshot
p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome
inferred← citeshttps://doi.org/10.1007/s12306-008-0053-4openalex-snapshot
Freeman-Sheldon Syndrome A case report and review of the literature
inferred← citeshttps://doi.org/10.1007/s12551-020-00721-5openalex-snapshot
Disease mutations in striated muscle myosins
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00168-3openalex-snapshot
Arthrogryposes (Multiple Congenital Contractures)
inferred← citeshttps://doi.org/10.1016/b978-0-12-394287-6.00002-1openalex-snapshot
Next Generation Sequencing in the Clinical Domain: Clinical Advantages, Practical, and Ethical Challenges
inferred← citeshttps://doi.org/10.1016/b978-0-12-404599-6.00002-0openalex-snapshot
Methodologies in the Era of Cardiovascular “Omics”
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.05632-4openalex-snapshot
Arthrogryposes (Multiple Congenital Contractures)
inferred← citeshttps://doi.org/10.1016/b978-0-12-820140-4.00001-6openalex-snapshot
Genomic sequencing of rare diseases
inferred← citeshttps://doi.org/10.1016/b978-0-12-824010-6.00039-3openalex-snapshot
Genomic approaches to rare disorder diagnosis
inferred← citeshttps://doi.org/10.1016/b978-0-323-06612-9.00026-2openalex-snapshot
Anesthesia for Orthopedic Surgery
inferred← citeshttps://doi.org/10.1016/b978-0-323-95702-1.00261-xopenalex-snapshot
Arthrogryposis
inferred← citeshttps://doi.org/10.1016/b978-0-7020-4340-6.00006-9openalex-snapshot
Immunohistochemistry and Immunoblotting
inferred← citeshttps://doi.org/10.1016/b978-0-7020-4340-6.00015-xopenalex-snapshot
Congenital Myopathies and Related Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-7020-7471-4.00006-9openalex-snapshot
Immunohistochemistry and Immunoblotting
inferred← citeshttps://doi.org/10.1016/b978-0-7020-7471-4.00015-xopenalex-snapshot
Congenital Myopathies and Related Disorders
inferred← citeshttps://doi.org/10.1016/b978-1-4557-3811-3.00034-8openalex-snapshot
10.1016/b978-1-4557-3811-3.00034-8
inferred← citeshttps://doi.org/10.1016/b978-3-437-15042-5.00068-0openalex-snapshot
Distal Arthrogryposis Type 2B
inferred← citeshttps://doi.org/10.1016/b978-3-437-15042-5.00093-xopenalex-snapshot
Freeman–Burian Syndrome (FBS)
inferred← citeshttps://doi.org/10.1016/j.abb.2018.10.007openalex-snapshot
Skeletal myosin binding protein-C: An increasingly important regulator of striated muscle physiology
inferred← citeshttps://doi.org/10.1016/j.abb.2019.108228openalex-snapshot
The mesa trail and the interacting heads motif of myosin II
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.11.014openalex-snapshot
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.01.003openalex-snapshot
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.04.004openalex-snapshot
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.04.008openalex-snapshot
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.06.014openalex-snapshot
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
inferred← citeshttps://doi.org/10.1016/j.bpj.2014.07.055openalex-snapshot
In Vivo Orientation of Single Myosin Lever Arms in Zebrafish Skeletal Muscle
inferred← citeshttps://doi.org/10.1016/j.bpj.2020.12.033openalex-snapshot
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome
inferred← citeshttps://doi.org/10.1016/j.canlet.2012.11.008openalex-snapshot
Genome-wide sequencing to identify the cause of hereditary cancer syndromes: With examples from familial pancreatic cancer
inferred← citeshttps://doi.org/10.1016/j.cophys.2021.01.004openalex-snapshot
More than movement: the proprioceptive system as a new regulator of musculoskeletal biology
inferred← citeshttps://doi.org/10.1016/j.ejmg.2011.06.002openalex-snapshot
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.11.004openalex-snapshot
Adducted thumbs: A clinical clue to genetic diagnosis
inferred← citeshttps://doi.org/10.1016/j.ejmg.2013.02.004openalex-snapshot
A further heterogeneous locus contained in 8q21 for Freeman–Sheldon syndrome may be suggested by Kristin Hofmann
inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.09.006openalex-snapshot
Genetics of clubfoot; recent progress and future perspectives
inferred← citeshttps://doi.org/10.1016/j.gene.2013.06.082openalex-snapshot
A novel TNNI2 mutation causes Freeman–Sheldon syndrome in a Chinese family with an affected adult with only facial contractures
inferred← citeshttps://doi.org/10.1016/j.gene.2013.11.057openalex-snapshot
Associations of MYH3 gene copy number variations with transcriptional expression and growth traits in Chinese cattle
inferred← citeshttps://doi.org/10.1016/j.jdcr.2026.07.052openalex-snapshot
Comment on “Basosquamous carcinoma in a patient with Freeman-Sheldon syndrome”
inferred← citeshttps://doi.org/10.1016/j.main.2008.07.011openalex-snapshot
Malformations congénitales de la main et génétique
inferred← citeshttps://doi.org/10.1016/j.nmd.2007.02.008openalex-snapshot
Hereditary myosin myopathies
inferred← citeshttps://doi.org/10.1016/j.nmd.2012.05.018openalex-snapshot
Myopathies associated with β-tropomyosin mutations
inferred← citeshttps://doi.org/10.1016/j.nmd.2015.03.004openalex-snapshot
Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity
inferred← citeshttps://doi.org/10.1016/j.nmd.2018.03.002openalex-snapshot
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B)
inferred← citeshttps://doi.org/10.1016/j.nmd.2022.03.007openalex-snapshot
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
inferred← citeshttps://doi.org/10.1016/j.ppedcard.2007.11.013openalex-snapshot
Genetics of familial dilated cardiomyopathy
inferred← citeshttps://doi.org/10.1016/j.rccot.2021.01.001openalex-snapshot
Etiología y anatomía patológica del pie equino varo congénito idiopático. Revisión de conceptos actuales
inferred← citeshttps://doi.org/10.1016/j.rmedc.2008.07.016openalex-snapshot
Freeman–Sheldon syndrome with respiratory failure: A case report
inferred← citeshttps://doi.org/10.1016/j.smallrumres.2024.107328openalex-snapshot
Expression of ovine MYH3 gene and its polymorphisms and association analysis with growth traits in Hu sheep
inferred← citeshttps://doi.org/10.1016/j.xhgg.2023.100213openalex-snapshot
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
inferred← citeshttps://doi.org/10.1016/j.ydbio.2019.02.017openalex-snapshot
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila
inferred← citeshttps://doi.org/10.1016/j.ydbio.2023.04.002openalex-snapshot
Slow myosin heavy chain 1 is required for slow myofibril and muscle fibre growth but not for myofibril initiation
inferred← citeshttps://doi.org/10.1016/j.yjmcc.2014.03.022openalex-snapshot
Ventricular myosin modifies in vitro step-size when phosphorylated
inferred← citeshttps://doi.org/10.1016/s0072-9752(07)86001-5openalex-snapshot
Congenital myopathies
inferred← citeshttps://doi.org/10.1017/cbo9780511674747.014openalex-snapshot
Description of muscle disease – specific diseases
inferred← citeshttps://doi.org/10.1017/cbo9780511674747.017openalex-snapshot
The congenital myopathies
inferred← citeshttps://doi.org/10.1038/ejhg.2013.250openalex-snapshot
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
inferred← citeshttps://doi.org/10.1038/ejhg.2016.84openalex-snapshot
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
inferred← citeshttps://doi.org/10.1038/nature08250openalex-snapshot
Targeted capture and massively parallel sequencing of 12 human exomes
inferred← citeshttps://doi.org/10.1038/nature18295openalex-snapshot
Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution
inferred← citeshttps://doi.org/10.1038/ng.499openalex-snapshot
Exome sequencing identifies the cause of a mendelian disorder
inferred← citeshttps://doi.org/10.1038/s10038-018-0513-0openalex-snapshot
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
inferred← citeshttps://doi.org/10.1038/s41420-021-00463-7openalex-snapshot
LncRNA-FKBP1C regulates muscle fiber type switching by affecting the stability of MYH1B
inferred← citeshttps://doi.org/10.1038/s41467-024-50442-6openalex-snapshot
UNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome
inferred← citeshttps://doi.org/10.1038/s41525-021-00273-xopenalex-snapshot
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
inferred← citeshttps://doi.org/10.1038/s41580-021-00389-zopenalex-snapshot
Molecular and cellular basis of genetically inherited skeletal muscle disorders
inferred← citeshttps://doi.org/10.1038/s44318-024-00285-0openalex-snapshot
FNDC1 is a myokine that promotes myogenesis and muscle regeneration
inferred← citeshttps://doi.org/10.1051/medsci/2010265452openalex-snapshot
Le séquençage de l’exome au secours des maladies génétiques
inferred← citeshttps://doi.org/10.1055/s-0040-1710339openalex-snapshot
Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment
inferred← citeshttps://doi.org/10.1071/an18205openalex-snapshot
Uncovering the mechanism whereby dietary nicotinic acid increases the intramuscular fat content in finishing steers by RNA sequencing analysis
inferred← citeshttps://doi.org/10.1073/pnas.0913527107openalex-snapshot
Functional diversity among a family of human skeletal muscle myosin motors
inferred← citeshttps://doi.org/10.1073/pnas.2315472121openalex-snapshot
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
inferred← citeshttps://doi.org/10.1074/jbc.m115.681874openalex-snapshot
A Failure to Communicate
inferred← citeshttps://doi.org/10.1074/jbc.m115.707489openalex-snapshot
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects
inferred← citeshttps://doi.org/10.1080/10495398.2022.2149549openalex-snapshot
Effect of bovine myosin heavy chain 3 on proliferation and differentiation of myoblast
inferred← citeshttps://doi.org/10.1080/13816810.2021.1989603openalex-snapshot
A case of blepharophimosis: Freeman Sheldon syndrome
inferred← citeshttps://doi.org/10.1089/dna.2006.0543openalex-snapshot
Gene Expression Profile of Bioreactor-Cultured Cardiac Cells: Activation of Morphogenetic Pathways for Tissue Engineering
inferred← citeshttps://doi.org/10.1091/mbc.e18-08-0526openalex-snapshot
Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction inDrosophilamodels of myosin-based Freeman–Sheldon syndrome
inferred← citeshttps://doi.org/10.1093/gbe/evae015openalex-snapshot
Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias
inferred← citeshttps://doi.org/10.1093/hmg/ddm279openalex-snapshot
An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character
inferred← citeshttps://doi.org/10.1093/hmg/ddp587openalex-snapshot
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
inferred← citeshttps://doi.org/10.1093/hmg/dds514openalex-snapshot
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
inferred← citeshttps://doi.org/10.1093/hmg/ddt344openalex-snapshot
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis
inferred← citeshttps://doi.org/10.1093/hmg/ddv084openalex-snapshot
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
inferred← citeshttps://doi.org/10.1096/fj.201900935rropenalex-snapshot
Defective sarcomere organization and reduced larval locomotion and fish survival in slow muscle heavy chain 1 ( smyhc1 ) mutants
inferred← citeshttps://doi.org/10.1096/fj.202200581ropenalex-snapshot
Simultaneous loss of skeletal muscle myosin heavy chain IIx and IIb causes severe skeletal muscle hypoplasia in postnatal mice
inferred← citeshttps://doi.org/10.1097/bpo.0000000000000997openalex-snapshot
Genetics and Classifications
inferred← citeshttps://doi.org/10.1097/bpo.0b013e3181d35e3fopenalex-snapshot
Evaluation of Embryonic and Perinatal Myosin Gene Mutations and the Etiology of Congenital Idiopathic Clubfoot
inferred← citeshttps://doi.org/10.1097/mcd.0b013e3282efdad8openalex-snapshot
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation
inferred← citeshttps://doi.org/10.1097/scs.0000000000002014openalex-snapshot
Bilateral Coronoidectomy by Craniofacial Approach for Hecht Syndrome-Related Trismus
inferred← citeshttps://doi.org/10.1097/scs.0000000000002781openalex-snapshot
Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman–Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction
inferred← citeshttps://doi.org/10.1097/scs.0000000000004802openalex-snapshot
Revisiting the Many Names of Freeman–Sheldon Syndrome
inferred← citeshttps://doi.org/10.1097/scs.0000000000005968openalex-snapshot
Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment
inferred← citeshttps://doi.org/10.1097/scs.0000000000006155openalex-snapshot
Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment
inferred← citeshttps://doi.org/10.1097/scs.0000000000006299openalex-snapshot
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome
inferred← citeshttps://doi.org/10.1097/wco.0b013e32830f93c7openalex-snapshot
Congenital myopathies
inferred← citeshttps://doi.org/10.1101/2023.07.02.547385openalex-snapshot
Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
inferred← citeshttps://doi.org/10.1101/2025.02.10.636595openalex-snapshot
A fluorescent folding reporter uncovers myosin misfolding as a driver of Hypertrophic Cardiomyopathy
inferred← citeshttps://doi.org/10.1111/age.13400openalex-snapshot
H3K27ac modification and transcription characteristics of adipose and muscle tissues in Chuxiang Black pig
inferred← citeshttps://doi.org/10.1111/ahg.70024openalex-snapshot
Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family
inferred← citeshttps://doi.org/10.1111/cge.12226openalex-snapshot
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
inferred← citeshttps://doi.org/10.1111/cge.14570openalex-snapshot
Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2006.00713.xopenalex-snapshot
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
inferred← citeshttps://doi.org/10.1111/j.1469-8749.2008.03016.xopenalex-snapshot
Impact of congenital talipes equinovarus etiology on treatment outcomes
inferred← citeshttps://doi.org/10.1111/j.1651-2227.2012.02708.xopenalex-snapshot
Distal arthrogryposis: clinical and genetic findings
inferred← citeshttps://doi.org/10.1113/jphysiol.2013.252650openalex-snapshot
Contractility and kinetics of human fetal and human adult skeletal muscle
inferred← citeshttps://doi.org/10.1136/bcr-2015-210935openalex-snapshot
Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years
inferred← citeshttps://doi.org/10.1136/bcr-2015-211338openalex-snapshot
Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus
inferred← citeshttps://doi.org/10.1136/bcr-2015-212607openalex-snapshot
Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features
inferred← citeshttps://doi.org/10.1136/jmedgenet-2011-100211openalex-snapshot
Fetal akinesia: review of the genetics of the neuromuscular causes: Table 1
inferred← citeshttps://doi.org/10.1146/annurev-pathol-020712-164026openalex-snapshot
Diagnostic Applications of High-Throughput DNA Sequencing
inferred← citeshttps://doi.org/10.1155/2015/714197openalex-snapshot
The Sarcomeric M-Region: A Molecular Command Center for Diverse Cellular Processes
inferred← citeshttps://doi.org/10.1155/2017/9327169openalex-snapshot
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
inferred← citeshttps://doi.org/10.1155/crid/2707697openalex-snapshot
Microstomia Correction in an 11‐Year‐Old Girl With Freeman–Burian Syndrome
inferred← citeshttps://doi.org/10.1159/000346478openalex-snapshot
Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations
inferred← citeshttps://doi.org/10.1159/000365057openalex-snapshot
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
inferred← citeshttps://doi.org/10.1159/000494451openalex-snapshot
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature
inferred← citeshttps://doi.org/10.1161/circulationaha.116.025490openalex-snapshot
A MicroRNA93–Interferon Regulatory Factor-9–Immunoresponsive Gene-1–Itaconic Acid Pathway Modulates M2-Like Macrophage Polarization to Revascularize Ischemic Muscle
inferred← citeshttps://doi.org/10.1172/jci84457openalex-snapshot
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
inferred← citeshttps://doi.org/10.1177/1055665617753482openalex-snapshot
Head First, Not Feet First
inferred← citeshttps://doi.org/10.1177/1055665619833855openalex-snapshot
Nonoperative Orthodontic Therapy for Retrognathia and Finding of Sella Turcica Bridging in a 16-Year-Old Girl With Freeman-Burian Syndrome
inferred← citeshttps://doi.org/10.1186/1471-2164-14-s3-s3openalex-snapshot
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
inferred← citeshttps://doi.org/10.1186/1471-2164-15-480openalex-snapshot
Detection of copy number variations and their effects in Chinese bulls
inferred← citeshttps://doi.org/10.1186/1471-2474-13-262openalex-snapshot
Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
inferred← citeshttps://doi.org/10.1186/1479-5876-9-222openalex-snapshot
Genomic sequencing in clinical trials
inferred← citeshttps://doi.org/10.1186/1750-1172-4-11openalex-snapshot
Sheldon-Hall syndrome
inferred← citeshttps://doi.org/10.1186/1757-1626-2-9403openalex-snapshot
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report
inferred← citeshttps://doi.org/10.1186/s12711-022-00762-2openalex-snapshot
Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle
inferred← citeshttps://doi.org/10.1186/s12881-019-0770-6openalex-snapshot
Novel potential causative genes in carotid paragangliomas
inferred← citeshttps://doi.org/10.1186/s12885-023-11349-5openalex-snapshot
Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC
inferred← citeshttps://doi.org/10.1186/s13023-015-0364-0openalex-snapshot
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
inferred← citeshttps://doi.org/10.1186/s13023-018-0984-2openalex-snapshot
Freeman-Burian syndrome
inferred← citeshttps://doi.org/10.1186/s13023-021-01937-8openalex-snapshot
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
inferred← citeshttps://doi.org/10.1186/s13023-022-02293-xopenalex-snapshot
Delineation of dual molecular diagnosis in patients with skeletal deformity
inferred← citeshttps://doi.org/10.1186/s13395-015-0046-6openalex-snapshot
Developmental myosins: expression patterns and functional significance
inferred← citeshttps://doi.org/10.1186/s13395-020-00241-6openalex-snapshot
Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism
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