Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa (Q37335630)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734943%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734943%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

main subject

photoreceptor protein

0 references

1 reference

1 reference

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25 March 2020

Laura Fernández-Sánchez

1 reference

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25 March 2020

1 reference

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25 March 2020

1 reference

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25 March 2020

A Avila-Fernández

1 reference

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25 March 2020

L Campello

1 reference

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25 March 2020

M Sánchez

1 reference

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25 March 2020

B Benavides

1 reference

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25 March 2020

M I López-Molina

1 reference

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25 March 2020

R Sánchez-Alcudia

1 reference

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25 March 2020

L R J da Silva

1 reference

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25 March 2020

N Reyes

1 reference

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25 March 2020

E Martín-Garrido

1 reference

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25 March 2020

O Zurita

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25 March 2020

P Fernández-San José

1 reference

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25 March 2020

R Pérez-Carro

1 reference

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25 March 2020

F García-García

1 reference

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25 March 2020

J Dopazo

1 reference

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25 March 2020

B García-Sandoval

1 reference

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25 March 2020

language of work or name

English

0 references

publication date

13 October 2016

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25 March 2020

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25 March 2020

volume

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25 March 2020

page(s)

35370

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Creative Commons Attribution 4.0 International

25 March 2020

start time

13 October 2016

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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6 September 2017

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Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

6 September 2017

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Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina

6 September 2017

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6 September 2017

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Analysis of Transcriptional Regulatory Pathways of Photoreceptor Genes by Expression Profiling of the Otx2-Deficient Retina

6 September 2017

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Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

6 September 2017

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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

6 September 2017

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6 September 2017

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6 September 2017

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Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Cloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cells

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

The many faces of SAM

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The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes

6 September 2017

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Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062157

Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6

6 September 2017

1 reference

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Generating neuronal diversity in the retina: one for nearly all.

6 September 2017

1 reference

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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

6 September 2017

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6 September 2017

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062157

The crystal structure of an Eph receptor SAM domain reveals a mechanism for modular dimerization

6 September 2017

1 reference

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A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

6 September 2017

1 reference

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

6 September 2017

1 reference

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A Domain Shared by the Polycomb Group Proteins Scm and ph Mediates Heterotypic and Homotypic Interactions

6 September 2017

1 reference

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SAM as a protein interaction domain involved in developmental regulation

6 September 2017

1 reference

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Sterile alpha motif domain-mediated self-association plays an essential role in modulating the activity of the Drosophila ETS family transcriptional repressor Yan.

6 September 2017

1 reference

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CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene

14 September 2017

1 reference

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Derepression by depolymerization; structural insights into the regulation of Yan by Mae.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062157

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062157

CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

26 June 2018

1 reference

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Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062157

Negative control of photoreceptor development in Drosophila by the product of the yan gene, an ETS domain protein

26 June 2018

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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

26 June 2018

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Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

2 September 2018

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Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

2 September 2018

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Mae inhibits Pointed-P2 transcriptional activity by blocking its MAPK docking site.

2 September 2018

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Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27734943

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SREP35370

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734943%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734943%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

PubMed publication ID

27734943

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734943%20AND%20SRC:MED&resulttype=core&format=json