Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome (Q24321590)

GOA release 2020-03-11

face morphogenesis

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GOA release 2020-03-11

Freeman-Sheldon syndrome

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inferred from title

Sheldon-Hall syndrome

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Reha M Toydemir

1

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Lynn Jorde

4

object named as

Lynn B Jorde

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author name string

Ann Rutherford

2

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Frank G Whitby

3

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John C Carey

5

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Michael J Bamshad

A revised and extended classification of the distal arthrogryposes

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publication date

May 2006

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language of work or name

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38

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issue

5

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page(s)

561-5

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cites work

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The distal arthrogryposes: delineation of new entities--review and nosologic discussion

20 April 2017

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Clinical characteristics and natural history of Freeman-Sheldon syndrome

20 April 2017

1 reference

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

20 April 2017

1 reference

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

20 April 2017

1 reference

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

20 April 2017

2 references

20 April 2017

7 January 2021

inferred from DOI database lookup

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

1 reference

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

20 April 2017

1 reference

Improved methods for building protein models in electron density maps and the location of errors in these models

20 April 2017

1 reference

Distal arthrogryposis type 1: clinical analysis of a large kindred

20 April 2017

1 reference

Cranio-carpo-tarsal dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

21 January 2018

1 reference

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

21 January 2018

1 reference

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

21 January 2018

1 reference

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

21 January 2018

1 reference

Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene

21 January 2018

1 reference

Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene

21 January 2018

1 reference

Alternative exon-encoded regions of Drosophila myosin heavy chain modulate ATPase rates and actin sliding velocity.

21 January 2018

1 reference

Structure of the actin-myosin complex and its implications for muscle contraction

21 January 2018

1 reference

Three-dimensional structure of myosin subfragment-1: a molecular motor

21 January 2018

1 reference

Database algorithm for generating protein backbone and side-chain co-ordinates from a C alpha trace application to model building and detection of co-ordinate errors.

21 January 2018

1 reference

An atomic model of the unregulated thin filament obtained by X-ray fiber diffraction on oriented actin-tropomyosin gels

21 January 2018

1 reference

The “whistling face” characteristic in a compound cranio-facio-corporal syndrome

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

The structural basis of blebbistatin inhibition and specificity for myosin II

1 reference

7 January 2021