Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders (Q27657524)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Gregory M Sawyer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Stephen Robertson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

Andrew J Sutherland-Smith

8 February 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Alice R Clark

1

0 references

Gregory M Sawyer

2

0 references

Stephen P Robertson

3

0 references

Andrew J Sutherland-Smith

4

0 references

publication date

22 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

4791-4800

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773341%20AND%20SRC:MED&resulttype=core&format=json

Actin-binding protein promotes the bipolar and perpendicular branching of actin filaments

8 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Filamins as integrators of cell mechanics and signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Structural comparison of several actin-binding macromolecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

The limits of promiscuity: isoform-specific dimerization of filamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

The role of actin-binding protein 280 in integrin-dependent mechanoprotection

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Cell death and mechanoprotection by filamin a in connective tissues after challenge by applied tensile forces

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Actin-binding protein requirement for cortical stability and efficient locomotion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

The molecular basis of filamin binding to integrins and competition with talin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Evidence for functional homology in the F-actin binding domains of gelsolin and alpha-actinin: implications for the requirements of severing and capping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Rapid and simple protein-stability screens: application to membrane proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Crystal structure of the actin-binding domain of alpha-actinin 1: evaluating two competing actin-binding models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Crystal Structure of the Actin-Binding Domain of α-Actinin-4 Lys255Glu Mutant Implicated in Focal Segmental Glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

21 January 2018

Ion-pairs in proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

A relationship between protein stability and protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Scaling and assessment of data quality

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Phasercrystallographic software

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Coot: model-building tools for molecular graphics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

PHENIX: building new software for automated crystallographic structure determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Refinement of macromolecular structures by the maximum-likelihood method

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

MolProbity: all-atom contacts and structure validation for proteins and nucleic acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

In vitro scratch assay: a convenient and inexpensive method for analysis of cell migration in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

21 January 2018

ImageJ for microscopy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442

Synthetic actin-binding domains reveal compositional constraints for function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP442