An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency (Q89280626)

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scientific article published on 01 October 2018

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English	An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency	scientific article published on 01 October 2018

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Europe PubMed Central

PMC publication ID

6140785

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title

An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency (English)

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Europe PubMed Central

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6140785

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main subject

enhanced S-cone syndrome

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Yang Kong

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1

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PMC publication ID

6140785

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Lihong Zhao

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2

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6140785

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Jeremy R Charette

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3

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6140785

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Wanda L Hicks

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4

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6140785

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Lisa Stone

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5

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6140785

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Patsy M Nishina

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6

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6140785

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Jürgen K Naggert

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7

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6140785

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publication date

1 October 2018

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published in

Human Molecular Genetics

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6140785

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2 April 2020

volume

27

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6140785

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2 April 2020

issue

19

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6140785

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3340-3352

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6140785

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cites work

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The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

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Modification of glutamine synthetase expression by mammalian Müller (glial) cells in retinal organ cultures

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PubMed

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12 December 2020

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Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

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Control of Müller glial cell proliferation and activation following retinal injury.

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Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1

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12 December 2020

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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

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An essential role for ARF6-regulated membrane traffic in adherens junction turnover and epithelial cell migration

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12 December 2020

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Nrl is required for rod photoreceptor development

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12 December 2020

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The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

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12 December 2020

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The N-terminal coiled coil domain of the cytohesin/ARNO family of guanine nucleotide exchange factors interacts with the scaffolding protein CASP

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The protein kinase Akt induces epithelial mesenchymal transition and promotes enhanced motility and invasiveness of squamous cell carcinoma lines.

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12 December 2020

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

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12 December 2020

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Requirement for Arf6 in Cell Adhesion, Migration, and Cancer Cell Invasion

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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PubMed

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12 December 2020

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The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.

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12 December 2020

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Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

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12 December 2020

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Galaxy: a platform for interactive large-scale genome analysis

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12 December 2020

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Epithelial-mesenchymal transition in development and cancer: role of phosphatidylinositol 3' kinase/AKT pathways

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12 December 2020

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Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40

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12 December 2020

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Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse

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12 December 2020

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Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity

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12 December 2020

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Pharmacological disruption of the outer limiting membrane leads to increased retinal integration of transplanted photoreceptor precursors

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12 December 2020

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Dual role of Nr2e3 in photoreceptor development and maintenance

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12 December 2020

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Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

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12 December 2020

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Fast and accurate short read alignment with Burrows-Wheeler transform

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The Sequence Alignment/Map format and SAMtools

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

based on heuristic

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NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

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Galaxy: a web-based genome analysis tool for experimentalists

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/29947801

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12 December 2020

based on heuristic

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FRMD4A regulates epithelial polarity by connecting Arf6 activation with the PAR complex

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12 December 2020

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Physiological regulation of Akt activity and stability.

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The outer limiting membrane (OLM) revisited: clinical implications

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12 December 2020

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Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina

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12 December 2020

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Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

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12 December 2020

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Antigen retrieval immunohistochemistry: review and future prospects in research and diagnosis over two decades

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12 December 2020

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Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors

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12 December 2020

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Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina

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12 December 2020

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Grp1 plays a key role in linking insulin signaling to glut4 recycling

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12 December 2020

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

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12 December 2020

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Conditional Müllercell ablation causes independent neuronal and vascular pathologies in a novel transgenic model

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12 December 2020

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Association between external limiting membrane status and visual acuity in diabetic macular oedema.

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12 December 2020

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ARAP2 signals through Arf6 and Rac1 to control focal adhesion morphology

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12 December 2020

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CDC42 is required for tissue lamination and cell survival in the mouse retina

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12 December 2020

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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

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12 December 2020

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AKT/PKB Signaling: Navigating the Network

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Identifiers

DOI

10.1093/HMG/DDY238

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PMC publication ID

6140785

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2 April 2020

PMC publication ID

6140785

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Europe PubMed Central

PMC publication ID

6140785

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29947801%20AND%20SRC:MED&resulttype=core&format=json

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2 April 2020

PubMed publication ID

29947801

1 reference

stated in

Europe PubMed Central

PMC publication ID

6140785

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29947801%20AND%20SRC:MED&resulttype=core&format=json

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2 April 2020

 

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