(Q36676410)

15 August 2017

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity (English)

1 reference

15 August 2017

Mark P Krebs

2

0 references

Elfride De Baere

object named as

Elfride De Baere

14

0 references

Sandro Banfi

object named as

Sandro Banfi

16

0 references

Camiel J F Boon

19

object named as

Camiel J F Boon

1 reference

15 August 2017

Nicole T M Saksens

1

1 reference

15 August 2017

Frederieke E Schoenmaker-Koller

3

1 reference

15 August 2017

Wanda Hicks

4

1 reference

15 August 2017

Minzhong Yu

5

1 reference

15 August 2017

Lanying Shi

6

1 reference

15 August 2017

Lucy Rowe

7

1 reference

15 August 2017

Gayle B Collin

8

1 reference

15 August 2017

Jeremy R Charette

9

1 reference

15 August 2017

Stef J Letteboer

10

1 reference

15 August 2017

Kornelia Neveling

11

1 reference

15 August 2017

Tamara W van Moorsel

12

1 reference

15 August 2017

Sleiman Abu-Ltaif

13

1 reference

15 August 2017

Sophie Walraedt

15

1 reference

15 August 2017

Francesca Simonelli

17

1 reference

15 August 2017

Frans P M Cremers

18

1 reference

15 August 2017

Ronald Roepman

20

1 reference

15 August 2017

Bart P Leroy

21

1 reference

15 August 2017

Neal S Peachey

22

1 reference

15 August 2017

Carel B Hoyng

23

1 reference

15 August 2017

Patsy M Nishina

24

1 reference

15 August 2017

Anneke I den Hollander

25

1 reference

15 August 2017

language of work or name

English

0 references

publication date

21 December 2015

1 reference

15 August 2017

1 reference

15 August 2017

48

1 reference

15 August 2017

2

1 reference

15 August 2017

144-151

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3474

15 August 2017

0 references

cites work

Subducted and melanotic cells in advanced age-related macular degeneration are derived from retinal pigment epithelium

1 reference

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Lipofuscin redistribution and loss accompanied by cytoskeletal stress in retinal pigment epithelium of eyes with age-related macular degeneration

30 September 2017

1 reference

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A case of hypotrichosis with juvenile macular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Alpha-catenins control cardiomyocyte proliferation by regulating Yap activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Selective impairment of a subset of Ran-GTP-binding domains of ran-binding protein 2 (Ranbp2) suffices to recapitulate the degeneration of the retinal pigment epithelium (RPE) triggered by Ranbp2 ablation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Cadherin adhesion and mechanotransduction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Dimer asymmetry defines α-catenin interactions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Novel method for the rapid isolation of RPE cells specifically for RNA extraction and analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Vinculin associates with endothelial VE-cadherin junctions to control force-dependent remodeling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

α-Catenin uses a novel mechanism to activate vinculin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Translational vision research models program

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Enhanced retinal pigment epithelium regeneration after injury in MRL/MpJ mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Yap1 acts downstream of α-catenin to control epidermal proliferation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Adhesive and signaling functions of cadherins and catenins in vertebrate development.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Genetic ablation of retinal pigment epithelial cells reveals the adaptive response of the epithelium and impact on photoreceptors.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Retinal drusen: harbingers of age, safe havens for trouble

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Prevalence and morphology of druse types in the macula and periphery of eyes with age-related maculopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Alpha-catenin: at the junction of intercellular adhesion and actin dynamics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Light-Evoked Responses of the Mouse Retinal Pigment Epithelium

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Invited review: Identifying new mouse models of cardiovascular disease: a review of high-throughput screens of mutagenized and inbred strains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Progressive age-related changes similar to age-related macular degeneration in a transgenic mouse model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Genetic influence on early age-related maculopathy: a twin study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Large-scale analysis of the human and mouse transcriptomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Controversies at the cytoplasmic face of the cadherin-based adhesion complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

The arm-repeat protein NPRAP (neurojungin) is a constituent of the plaques of the outer limiting zone in the retina, defining a novel type of adhering junction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

An alpha-E-catenin gene trap mutation defines its function in preimplantation development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Normally occurring loss of single cells and repair of resulting defects in retinal pigment epithelium in situ

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Patterned dystrophies of the retinal pigment epithelium. A review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

The distribution of F-actin in cells isolated from vertebrate retinas

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Error propagation in relative real-time reverse transcription polymerase chain reaction quantification models: the balance between accuracy and precision.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouse.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Ten-year incidence and progression of age-related maculopathy: The Beaver Dam eye study

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

Butterfly--Shaped Pigment Dystrophy of the Fovea

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4787620

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3474

Dominant cystoid macular dystrophy

21 January 2018

1 reference

12 December 2020

Butterfly-shaped macular dystrophy in four generations

1 reference

12 December 2020

Subunits in zonulae adhaerentes and striations in the associated circumferential microfilament bundles in chicken retinal pigment epithelial cells in situ

1 reference

12 December 2020

Evolution of geographic atrophy of the retinal pigment epithelium

1 reference

12 December 2020

Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation

1 reference

12 December 2020

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

1 reference

12 December 2020

Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

1 reference

12 December 2020

Fifteen-Year Cumulative Incidence of Age-Related Macular Degeneration

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3474

1 reference

15 August 2017

1 reference

15 August 2017

1 reference