ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature (Q24293837)

GOA release 2020-03-11

Zinc finger protein 408

1 reference

exudative vitreoretinopathy

GOA release 2020-03-11

1 reference

25

0 references

Chris F. Inglehearn

18

Chris F Inglehearn

0 references

James A Poulter

7

James A Poulter

0 references

Lisette Hetterschijt

14

Lisette Hetterschijt

0 references

Carmel Toomes

10

Carmel Toomes

0 references

Christian Gilissen

Christian Gilissen

4

0 references

Joris A Veltman

Joris A Veltman

24

0 references

Alexander Hoischen

5

Alexander Hoischen

0 references

Hannie Kremer

23

Hannie Kremer

0 references

Rob W J Collin

1

Rob W J Collin

0 references

Frans P M Cremers

26

Frans P M Cremers

0 references

author name string

Konstantinos Nikopoulos

2

0 references

Margo Dona

3

0 references

F Nienke Boonstra

6

0 references

Hiroyuki Kondo

8

0 references

Wolfgang Berger

9

0 references

Tomoko Tahira

11

0 references

Lucas R Mohn

12

0 references

Ellen A Blokland

13

0 references

Manir Ali

15

0 references

Johanne M Groothuismink

16

0 references

Lonneke Duijkers

17

0 references

Lea Sollfrank

19

0 references

Tim M Strom

20

0 references

Eiichi Uchio

21

0 references

C Erik van Nouhuys

Proceedings of the National Academy of Sciences of the United States of America

22

0 references

language of work or name

English

0 references

publication date

11 June 2013

0 references

published in

0 references

volume

110

0 references

issue

24

0 references

page(s)

9856-61

0 references

cites work

TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Initial sequencing and analysis of the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Association of SET domain and myotubularin-related proteins modulates growth control

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Aiolos, a lymphoid restricted transcription factor that interacts with Ikaros to regulate lymphocyte differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Fbxw7 controls angiogenesis by regulating endothelial Notch activity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Structure of the SET domain histone lysine methyltransferase Clr4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Identification of DNA recognition sequences and protein interaction domains of the multiple-Zn-finger protein Roaz

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Vascular morphogenesis in the zebrafish embryo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Genetic determinants of hyaloid and retinal vasculature in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Mutations in the candidate gene for Norrie disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Zinc fingers are sticking together

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Dominant exudative vitreoretinopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Fluorescein angiographic findings in familial exudative vitreoretinopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

S1P1 inhibits sprouting angiogenesis during vascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

Selective dimerization of a C2H2 zinc finger subfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1220864110

Familial exudative vitreoretinopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683717

Familial exudative vitreoretinopathy. An expanded view

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23716654

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1220864110

1 reference

ADS bibcode

2013PNAS..110.9856C

0 references

1 reference

1 reference

PubMed publication ID

23716654

1 reference