(Q35784455)

English

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle

scientific article published on 3 March 2015

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle (English)

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2 March 2020

Freeman-Sheldon syndrome

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inferred from title

1

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2 March 2020

author name string

Anita E Beck

2

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2 March 2020

Margaret J McMillin

3

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2 March 2020

F Steven Korte

4

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2 March 2020

Michael J Bamshad

5

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2 March 2020

Michael Regnier

6

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2 March 2020

publication date

3 March 2015

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2 March 2020

Human Molecular Genetics

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2 March 2020

24

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2 March 2020

12

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2 March 2020

3348-3358

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2 March 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4481580/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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1 reference

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1 reference

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Functional diversity among a family of human skeletal muscle myosin motors

1 reference

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Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

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Cell therapy enhances function of remote non-infarcted myocardium

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Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

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Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

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12 July 2018

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

1 reference

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12 July 2018

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

1 reference

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12 July 2018

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

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A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

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

1 reference

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12 July 2018

Clinical characteristics and natural history of Freeman-Sheldon syndrome

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12 July 2018

Sarcomeric determinants of striated muscle relaxation kinetics

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Mutation of perinatal myosin heavy chain associated with a Carney complex variant

1 reference

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Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

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Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

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12 July 2018

Force kinetics and individual sarcomere dynamics in cardiac myofibrils after rapid ca(2+) changes

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Relaxation kinetics following sudden Ca(2+) reduction in single myofibrils from skeletal muscle

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The genetics of idiopathic clubfoot

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Family history, maternal smoking, and clubfoot: an indication of a gene-environment interaction

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Genetics of club foot in Maori and Pacific people

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The effect of inorganic phosphate on force generation in single myofibrils from rabbit skeletal muscle

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1 reference

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1 reference

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A genetic analysis of clubfoot in Hawaii

1 reference

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12 December 2020

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inferred from PubMed ID database lookup

Length and myofilament spacing-dependent changes in calcium sensitivity of skeletal fibres: effects of pH and ionic strength

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of the cross-bridge transition from a weakly to strongly bound state in skinned rabbit muscle fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology study of idiopathic talipes equinovarus

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

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inferred from PubMed ID database lookup

Sarcomere popping requires stretch over a range where total tension decreases with length

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thin filament Ca2+ binding properties and regulatory unit interactions alter kinetics of tension development and relaxation in rabbit skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype relationships in Freeman-Sheldon syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV084

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

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