(Q37100077)

18 August 2017

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome (English)

1 reference

Baraitser-Winter syndrome

18 August 2017

1 reference

1 reference

11

Leslie G Biesecker

1 reference

18 August 2017

Kim M Keppler-Noreuil

3

object named as

Kim Keppler-Noreuil

1 reference

18 August 2017

Jennifer J Johnston

1

1 reference

18 August 2017

Kuo-Kuang Wen

2

1 reference

18 August 2017

Melissa McKane

4

1 reference

18 August 2017

Jessica L Maiers

5

1 reference

18 August 2017

Alexander Greiner

6

1 reference

18 August 2017

Julie C Sapp

7

1 reference

18 August 2017

NIH Intramural Sequencing Center

8

1 reference

18 August 2017

Kris A Demali

9

1 reference

18 August 2017

Peter A Rubenstein

10

1 reference

18 August 2017

language of work or name

1 reference

28 May 2013

1 reference

18 August 2017

1 reference

18 August 2017

34

1 reference

18 August 2017

9

1 reference

18 August 2017

1242-1249

1 reference

describes a project that uses

18 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3745514/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Clinical application of exome sequencing in undiagnosed genetic conditions

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Unlocking Mendelian disease using exome sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Vinculin regulates cell-surface E-cadherin expression by binding to beta-catenin

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

The nature of the globular- to fibrous-actin transition

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Intrastrand cross-linked actin between Gln-41 and Cys-374. II. Properties of cross-linked oligomers

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Intrastrand cross-linked actin between Gln-41 and Cys-374. I. Mapping of sites cross-linked in F-actin by N-(4-azido-2-nitrophenyl) putrescine

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Structural connectivity in actin: effect of C-terminal modifications on the properties of actin

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Site-directed mutagenesis of the yeast actin gene: a test for actin function in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Effect of complexes of ADP and phosphate analogs on the conformation of the Cys707-Cys697 region of myosin subfragment 1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

A mammalian actin substitution in yeast actin (H372R) causes a suppressible mitochondria/vacuole phenotype

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Differential distribution of beta- and gamma-actin in guinea-pig cochlear sensory and supporting cells

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Sorting of actin isoforms in chicken auditory hair cells.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Structural dynamics of F-actin: I. Changes in the C terminus.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745514

Familial visceral myopathies: from symptom-based syndromes to actin-related diseases

3 September 2018

1 reference

12 December 2020

Actin typing on total cellular extracts: a highly sensitive protein-chemical procedure able to distinguish different actins

1 reference

12 December 2020

Fibronectin: purification, immunochemical properties, and biological activities

1 reference

12 December 2020

The Dubowitz syndrome

1 reference

12 December 2020

Identification and quantification of actin isoforms in vertebrate cells and tissues

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22350

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23649928

1 reference