(Q39504604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

The cell adhesion gene PVRL3 is associated with congenital ocular defects (English)

1 reference

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7 February 2020

0 references

1 reference

4

1 reference

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7 February 2020

Michael E. Talkowski

8

1 reference

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7 February 2020

author name string

Salil A Lachke

1

1 reference

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7 February 2020

Anne W Higgins

2

1 reference

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7 February 2020

Maiko Inagaki

3

1 reference

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7 February 2020

Qiongchao Xi

5

1 reference

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7 February 2020

Michelle Long

6

1 reference

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7 February 2020

Bradley J Quade

7

1 reference

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7 February 2020

Atsuko Fujimoto

10

1 reference

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7 February 2020

Michael L Robinson

11

1 reference

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7 February 2020

Ying Yang

12

1 reference

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7 February 2020

Quynh T Duong

13

1 reference

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7 February 2020

Irit Shapira

14

1 reference

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7 February 2020

Benny Motro

15

1 reference

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7 February 2020

Jun Miyoshi

16

1 reference

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7 February 2020

Yoshimi Takai

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Cynthia C Morton

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Richard L Maas

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

James F Gusella

9

1 reference

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7 February 2020

publication date

17 July 2011

1 reference

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7 February 2020

1 reference

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7 February 2020

volume

131

1 reference

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7 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

235-250

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1064-z

7 February 2020

exact match

0 references

cites work

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

1 reference

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Building the developmental oculome: systems biology in vertebrate eye development and disease

12 September 2017

1 reference

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Cell adhesion molecules nectins and associating proteins: Implications for physiology and pathology

12 September 2017

1 reference

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Mouse models of cataract.

12 September 2017

1 reference

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Notch signaling is required for lateral induction of Jagged1 during FGF-induced lens fiber differentiation

12 September 2017

1 reference

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The EPHA2 gene is associated with cataracts linked to chromosome 1p

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

ChromaSig: a probabilistic approach to finding common chromatin signatures in the human genome

12 September 2017

1 reference

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The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Nectins and nectin-like molecules: roles in contact inhibition of cell movement and proliferation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

The immunoglobulin-like cell adhesion molecule nectin and its associated protein afadin.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Cross-talk among integrin, cadherin, and growth factor receptor: roles of nectin and nectin-like molecule.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Congenital cataracts and their molecular genetics

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Genetic origins of cataract

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Lens induction in vertebrates: variations on a conserved theme of signaling events

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

SUMO1 haploinsufficiency leads to cleft lip and palate

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Roles of cell-adhesion molecules nectin 1 and nectin 3 in ciliary body development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Preferred analysis methods for Affymetrix GeneChips revealed by a wholly defined control dataset

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Long-range control of gene expression: emerging mechanisms and disruption in disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic Testing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Never say never. The NIMA-related protein kinases in mitotic control

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Direct binding of cell polarity protein PAR-3 to cell-cell adhesion molecule nectin at neuroepithelial cells of developing mouse

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Prominent role of the Ig-like V domain in trans-interactions of nectins. Nectin3 and nectin 4 bind to the predicted C-C'-C"-D beta-strands of the nectin1 V domain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Transcription factor haploinsufficiency: when half a loaf is not enough

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Nectin: an adhesion molecule involved in formation of synapses

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Identification and assignment of the human NIMA-related protein kinase 7 gene (NEK7) to human chromosome 1q31.3

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Changes in adhesion complexes define stages in the differentiation of lens fiber cells.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

3' deletions cause aniridia by preventing PAX6 gene expression

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Human nectin3/PRR3: a novel member of the PVR/PRR/nectin family that interacts with afadin

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Isolation and characterization of two evolutionarily conserved murine kinases (Nek6 and nek7) related to the fungal mitotic regulator, NIMA

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Nectin-3, a new member of immunoglobulin-like cell adhesion molecules that shows homophilic and heterophilic cell-cell adhesion activities

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Connexin46 mutations in autosomal dominant congenital cataract

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

12 September 2017

PAX6 mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Detection of specific sequences among DNA fragments separated by gel electrophoresis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

An improved PCR method for walking in uncloned genomic DNA.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Jagged 1 is necessary for normal mouse lens formation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Nek7 kinase targeting leads to early mortality, cytokinesis disturbance and polyploidy.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Cdc42- and IRSp53-dependent contractile filopodia tether presumptive lens and retina to coordinate epithelial invagination

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Role of cell adhesion molecule nectin-3 in spermatid development.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Localization of PDZ domain containing proteins Discs Large-1 and Scribble in the mouse eye.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Expression patterns of nectins and afadin during epithelial remodeling in the mouse embryo

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Systematic analysis of E-, N- and P-cadherin expression in mouse eye development.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279124

21 August 2018

PAX6 mutations reviewed

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-011-1064-Z

Genetic counselling in sporadic cases of congenital cataract

21 January 2018

1 reference

12 December 2020

Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice

1 reference

12 December 2020

An ultrastructural analysis of the epithelial-fiber interface (EFI) in primate lenses

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

10.1007/S00439-011-1064-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769484%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference