(Q30391417)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

main subject

scapuloperoneal myopathy

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Dong-Hui Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Wendy H Raskind

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

William W Parson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Tiffany Vu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Yunlin Zheng

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mark Matsushita

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

John Wolff

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Hillary Lipe

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Thomas D Bird

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

14 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

296

1 reference

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7 February 2020

issue

1-2

1 reference

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7 February 2020

page(s)

22-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Design of therapeutic proteins with enhanced stability.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Amyloid formation by globular proteins under native conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Computational models for the prediction of polypeptide aggregation propensity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Studies of protein-protein interfaces: a statistical analysis of the hydrophobic effect

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

VMD: visual molecular dynamics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Principles of protein-protein interactions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

A role for surface hydrophobicity in protein-protein recognition

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Consequences of mutations within the C terminus of the FHL1 gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016010

The LIM-domain protein FHL1 (SLIM 1) exhibits functional regulation in skeletal muscle

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20633900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2010.06.017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20633900%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

20633900

1 reference