The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.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 yearsThe Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.Effects of Cardiac Troponin I Mutation P83S on Contractile Properties and the Modulation by PKA-Mediated Phosphorylation.A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.Finally, We Can Relax: A New Generation of Muscle Models that Incorporate Sarcomere Compliance.Comparison of skeletal muscle miRNA and mRNA profiles among three pig breeds.Developmental myosins: expression patterns and functional significance.Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaFreeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.Contractile properties of developing human fetal cardiac muscle.Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery.
P2860
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P2860
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@ast
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@en
type
label
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@ast
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@en
prefLabel
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@ast
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@en
P2093
P2860
P356
P1476
The embryonic myosin R672C mut ...... cling in adult skeletal muscle
@en
P2093
Anita E Beck
F Steven Korte
Margaret J McMillin
Michael J Bamshad
Michael Regnier
P2860
P304
P356
10.1093/HMG/DDV084
P577
2015-03-03T00:00:00Z