(Q46086160)

19 December 2017

title

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

1 reference

19 December 2017

author

Chong Ae Kim

12

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19 December 2017

Stephen Robertson

Stephen P Robertson

2

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Valérie Cormier-Daire

Valerie Cormier-Daire

15

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Helen V. Firth

13

Helen Firth

1 reference

19 December 2017

David Rimoin

24

David L Rimoin

1 reference

19 December 2017

Ralph S. Lachman

23

Ralph S Lachman

1 reference

19 December 2017

Andrea Superti-Furga

16

Andrea Superti-Furga

1 reference

19 December 2017

author name string

Deborah Krakow

1

1 reference

19 December 2017

Lily M King

3

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19 December 2017

Timothy Morgan

4

1 reference

19 December 2017

Eiman T Sebald

5

1 reference

19 December 2017

Cristina Bertolotto

6

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19 December 2017

Sebastian Wachsmann-Hogiu

7

1 reference

19 December 2017

Dora Acuna

8

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19 December 2017

Sandor S Shapiro

9

1 reference

19 December 2017

Toshiro Takafuta

10

1 reference

19 December 2017

Salim Aftimos

11

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19 December 2017

Carlos E Steiner

14

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19 December 2017

Luisa Bonafe

17

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19 December 2017

John M Graham

18

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19 December 2017

Arthur Grix

19

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19 December 2017

Carlos A Bacino

20

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19 December 2017

Judith Allanson

21

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19 December 2017

Martin G Bialer

22

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19 December 2017

Daniel H Cohn

25

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19 December 2017

language of work or name

English

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publication date

29 February 2004

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19 December 2017

published in

Nature Genetics

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19 December 2017

volume

36

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19 December 2017

page(s)

405-410

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19 December 2017

issue

4

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19 December 2017

https://scigraph.springernature.com/pub.10.1038/ng1319

exact match

0 references

cites work

Structural and functional aspects of filamins

1 reference

Three-dimensional structure of actin filaments and of an actin gel made with actin-binding protein.

21 January 2018

1 reference

Filamin-A fragment localizes to the nucleus to regulate androgen receptor and coactivator functions

21 January 2018

1 reference

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

21 January 2018

1 reference

Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha

21 January 2018

1 reference

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

21 January 2018

1 reference

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

21 January 2018

1 reference

The limits of promiscuity: isoform-specific dimerization of filamins

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

21 January 2018

1 reference

Multiple congenital dislocations associated with characteristic facial abnormality

21 January 2018

1 reference

Atelosteogenesis syndromes: a review, with comments on their pathogenesis

21 January 2018

1 reference

Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome

21 January 2018

1 reference

Prenatal diagnosis of boomerang dysplasia.

21 January 2018

1 reference

Spondylocarpotarsal synostosis with epiphyseal dysplasia

21 January 2018

1 reference

7 January 2021

Spondylocarpotarsal synostosis with ocular findings

1 reference

7 January 2021

Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

1 reference

7 January 2021

Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1319

1 reference

19 December 2017

PubMed ID

14991055

1 reference

19 December 2017