Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. (Q42778096)

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7 April 2020

title

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies (English)

1 reference

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7 April 2020

main subject

RNA sequencing

0 references

phenotypic heterogeneity

1 reference

1

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7 April 2020

Wenhua Wei

7

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7 April 2020

Jacek Pilch

8

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7 April 2020

David Markie

16

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7 April 2020

Tracy Dudding-Byth

17

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7 April 2020

Stephen Robertson

19

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7 April 2020

author name string

Alison Macharg

2

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7 April 2020

Cheng-Yee Chang

3

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7 April 2020

Margriet van Kogelenberg

4

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7 April 2020

Tim Morgan

5

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7 April 2020

Sophia Frentz

6

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Mark Hannibal

9

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7 April 2020

Nicola Foulds

10

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George McGillivray

11

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Richard J Leventer

12

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Sixto García-Miñaúr

13

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7 April 2020

Stuart Sugito

14

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Scott Nightingale

15

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7 April 2020

Raj P Kapur

18

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publication date

2 November 2017

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7 April 2020

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volume

39

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issue

1

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7 April 2020

page(s)

103-113

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Chronic intestinal pseudo-obstruction

7 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation

21 January 2018

1 reference

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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 January 2018

1 reference

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Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy

21 January 2018

1 reference

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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

21 January 2018

1 reference

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CAGEr: precise TSS data retrieval and high-resolution promoterome mining for integrative analyses

21 January 2018

1 reference

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A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Evidence for the mechanosensor function of filamin in tissue development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Structure of three tandem filamin domains reveals auto-inhibition of ligand binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Documentation and localization of force-mediated filamin A domain perturbations in moving cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

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%2FHUMU.23355

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Filamins: promiscuous organizers of the cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

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%2FHUMU.23355

Filamin A: phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

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%2FHUMU.23355

Fiji: an open-source platform for biological-image analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Structural and viscoelastic properties of actin/filamin networks: cross-linked versus bundled networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

The bimodal role of filamin in controlling the architecture and mechanics of F-actin networks.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Structural and functional aspects of filamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

inferred from DOI database lookup

7 January 2021

based on heuristic

Structural mechanism of integrin inactivation by filamin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23355

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.23355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29024177%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference