Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
about
Sheldon-Hall syndromeExome sequencing identifies the cause of a mendelian disorderTargeted capture and massively parallel sequencing of 12 human exomesExome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1Arthrogryposis: a review and updateAdvances in genetics: widening our understanding of prostate cancerCryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolutionGenomic sequencing in clinical trialsA MicroRNA93-Interferon Regulatory Factor-9-Immunoresponsive Gene-1-Itaconic Acid Pathway Modulates M2-Like Macrophage Polarization to Revascularize Ischemic Muscle.Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Mutations in ECEL1 cause distal arthrogryposis type 5DFindings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneRecessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.Functional diversity among a family of human skeletal muscle myosin motors.Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Detection of copy number variations and their effects in Chinese bullsEvaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.In vivo orientation of single myosin lever arms in zebrafish skeletal muscleExome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.Identifying Mendelian disease genes with the variant effect scoring toolTwo novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heartThe embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleBilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus.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 yearsNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthAMC: amyoplasia and distal arthrogryposis.A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.Single nucleotide polymorphisms, haplotypes and combined genotypes in MYH₃ gene and their associations with growth and carcass traits in Qinchuan cattleMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutationsUpdate on clubfoot: etiology and treatment.Thick and thin filament gene mutations in striated muscle diseases.Myosinopathies: pathology and mechanisms.
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P2860
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@ast
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en-gb
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@nl
type
label
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@ast
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en-gb
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@nl
prefLabel
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@ast
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en-gb
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@nl
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P2860
P3181
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P1433
P1476
Mutations in embryonic myosin ...... rome and Sheldon-Hall syndrome
@en
P2093
Ann Rutherford
Frank G Whitby
John C Carey
Lynn B Jorde
Michael J Bamshad
P2860
P2888
P3181
P356
10.1038/NG1775
P407
P577
2006-05-01T00:00:00Z
P5875
P6179
1025751715