(Q24531960)

4 July 2017

title

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

1 reference

4 July 2017

main subject

distal arthrogryposis

1 reference

7

Lynn B Jorde

1 reference

4 July 2017

Sandy S Sung

1

1 reference

4 July 2017

Anna-Marie E Brassington

2

1 reference

4 July 2017

Kathryn Grannatt

3

1 reference

4 July 2017

Ann Rutherford

4

1 reference

4 July 2017

Frank G Whitby

5

1 reference

4 July 2017

Patrycja A Krakowiak

6

1 reference

4 July 2017

John C Carey

8

1 reference

4 July 2017

Mike Bamshad

9

1 reference

4 July 2017

language of work or name

English

0 references

publication date

1 March 2003

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

72

1 reference

4 July 2017

issue

3

1 reference

4 July 2017

page(s)

681-690

1 reference

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Troponin I is present in human cartilage and inhibits angiogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Crystal structure of tropomyosin at 7 Angstroms resolution

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Striated muscle cytoarchitecture: an intricate web of form and function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Transgenic mouse model of stunned myocardium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Troponin I degradation and covalent complex formation accompanies myocardial ischemia/reperfusion injury

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

A revised and extended classification of the distal arthrogryposes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Cranio-carpo-tarsal dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Genetics of the Drosophila flight muscle myofibril: a window into the biology of complex systems

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

The Genetic Basis for Cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Distal arthrogryposis type 1: clinical analysis of a large kindred

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Muscle abnormalities in Drosophila melanogaster heldup mutants are caused by missing or aberrant troponin-I isoforms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Segregation analysis of idiopathic talipes equinovarus in a Texan population

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

A new look at thin filament regulation in vertebrate skeletal muscle.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Developmental regulation of troponin I isoform genes in striated muscles of transgenic mice.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Abnormal muscle development in the heldup3 mutant of Drosophila melanogaster is caused by a splicing defect affecting selected troponin I isoforms

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Troponin I inhibits capillary endothelial cell proliferation by interaction with the cell's bFGF receptor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Calcium- and magnesium-dependent interactions between the C-terminus of troponin I and the N-terminal, regulatory domain of troponin C.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Tropomyosin 3 increases striated muscle isoform diversity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Dominant distal arthrogryposis in a Maori family with marked variability of expression

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Mutations affecting the indirect flight muscles of Drosophila melanogaster.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180243

Mapping of Behaviour in Drosophila Mosaics

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12592607

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic aspects of arthrogryposis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12592607

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/368294

1 reference

OpenCitations bibliographic resource ID

4 July 2017

2987163

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2987163

1 reference