Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. (Q52846786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

title

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

main subject

Ehlers-Danlos syndrome

0 references

author

Edoardo Giacopuzzi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Marco Ritelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Valeria Cinquina

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Nicola Chiarelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

author name string

Silvia Morlino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Giulia Carini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Silvia Majore

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Marina Colombi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

Marco Castori

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

language of work or name

English

0 references

publication date

14 October 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

25 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

volume

173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

page(s)

169-176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

25 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Familial cardiac valvulopathy due to filamin A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Smad-dependent and Smad-independent pathways in TGF-beta family signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Combined cardiological and neurological abnormalities due to filamin A gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Lysyl Oxidase Deficiency in Ehlers–Danlos Syndrome Type V

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

A role for smad6 in development and homeostasis of the cardiovascular system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

R‐Ras interacts with filamin a to maintain endothelial barrier function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Regulation of cell adhesion to collagen via beta1 integrins is dependent on interactions of filamin A with vimentin and protein kinase C epsilon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamin A is required for vimentin-mediated cell adhesion and spreading

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

47 patients with FLNA associated periventricular nodular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

The filamins: organizers of cell structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

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/10.1002/AJMG.A.38004

Filamin associates with Smads and regulates transforming growth factor-beta signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamins as integrators of cell mechanics and signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamin A mutation is one cause of FG syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Structural and functional aspects of filamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamins in cardiovascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Filamins in cell signaling, transcription and organ development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

International nosology of heritable disorders of connective tissue, Berlin, 1986

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

Novel no-stop FLNA mutation causes multi-organ involvement in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38004

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27739212 AND SRC:MED&resulttype=core&format=json

25 March 2020

1 reference