(Q37186989)

18 August 2017

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome (English)

1 reference

spondylocarpotarsal synostosis syndrome

18 August 2017

0 references

author name string

Claire Farrington-Rock

1

1 reference

18 August 2017

Veneta Kirilova

2

1 reference

18 August 2017

Lisa Dillard-Telm

3

1 reference

18 August 2017

Alexander D Borowsky

4

1 reference

18 August 2017

Sara Chalk

5

1 reference

18 August 2017

Matthew J Rock

6

1 reference

18 August 2017

Daniel H Cohn

7

1 reference

18 August 2017

Deborah Krakow

8

1 reference

18 August 2017

17 July 2007

1 reference

18 August 2017

Human Molecular Genetics

1 reference

18 August 2017

17

1 reference

18 August 2017

5

1 reference

18 August 2017

631-641

1 reference

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Filamins: promiscuous organizers of the cytoskeleton

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Mutations in FLNB cause boomerang dysplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Structural and functional aspects of filamins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Filamins as integrators of cell mechanics and signalling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Structural basis for vertebrate filamin dimerization

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Mutations in two regions of FLNB result in atelosteogenesis I and III.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Spondylocarpotarsal synostosis with epiphyseal dysplasia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

Spondylocarpotarsal synostosis with ocular findings

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680151

20 October 2018

Congenital synspondylism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17635842

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDM188

1 reference

release_d5pgedvuzfdp3euesbgnmytcai

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d5pgedvuzfdp3euesbgnmytcai

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

1 reference