(Q24643534)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

main subject

scapuloperoneal myopathy

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

David Otaegui

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

12

Kirk C Wilhelmsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Catarina M Quinzii

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Tuan H Vu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

K Christopher Min

3

1 reference

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31 December 2019

Kurenai Tanji

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Sandra Barral

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Raji P Grewal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Andrea Kattah

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Teruhito Kunimatsu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

David M Blake

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Lewis P Rowland

13

1 reference

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31 December 2019

Arthur P Hays

14

1 reference

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31 December 2019

Eduardo Bonilla

15

1 reference

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31 December 2019

Michio Hirano

16

1 reference

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31 December 2019

language of work or name

English

0 references

publication date

1 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

31 December 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253963

0 references

published in

American Journal of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

1

1 reference

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31 December 2019

page(s)

208-213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle

31 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

The LIM domain: from the cytoskeleton to the nucleus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Skeletal muscle LIM protein 1 (SLIM1/FHL1) induces alpha 5 beta 1-integrin-dependent myocyte elongation

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and [...]

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Genomic structure, tissue expression and chromosomal location of the LIM-only gene, SLIM1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Slim defines a novel family of LIM-proteins expressed in skeletal muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Disruption of the mouse RBP-J kappa gene results in early embryonic death

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Protein degradation and protection against misfolded or damaged proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

The multifunctional roles of the four-and-a-half-LIM only protein FHL2.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

LIM protein KyoT2 negatively regulates transcription by association with the RBP-J DNA-binding protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Skeletal muscle LIM protein 1 regulates integrin-mediated myoblast adhesion, spreading, and migration.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

Scapuloperoneal muscular atrophy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253963

[On the nosological role of the scapulo-peroneal syndrome]

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18179901

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The dystrophic type of scapuloperoneal syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18179901

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2007.09.013

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

release_gdvegucg6nchdivysrbos5bf7i

31 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gdvegucg6nchdivysrbos5bf7i

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18179901%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

18179901

2 references