RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome (Q34428231)

2 August 2017

title

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome (English)

1 reference

2 August 2017

1

Paulina Carmona-Mora

1 reference

2 August 2017

7

Katherina Walz

1 reference

2 August 2017

Cesar P Canales

2

1 reference

2 August 2017

Lei Cao

3

1 reference

2 August 2017

Irene C Perez

4

1 reference

2 August 2017

Anand K Srivastava

5

1 reference

2 August 2017

Juan I Young

6

1 reference

2 August 2017

language of work or name

English

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publication date

18 September 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

9

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2 August 2017

page(s)

e45155

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

18 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

6 July 2018

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Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

6 July 2018

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Autism spectrum features in Smith–Magenis syndrome

6 July 2018

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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

6 July 2018

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Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

6 July 2018

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6 July 2018

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

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It takes a PHD to read the histone code

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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

6 July 2018

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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

6 July 2018

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RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

6 July 2018

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6 July 2018

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6 July 2018

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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

6 July 2018

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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3445574

Amino terminus of the yeast GAL4 gene product is sufficient for nuclear localization

6 July 2018

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Core filaments of the nuclear matrix

6 July 2018

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Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

6 July 2018

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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

27 October 2018

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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3445574

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

27 October 2018

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Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

27 October 2018

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Mutations in RAI1 associated with Smith-Magenis syndrome

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3445574

Identification of two independent nucleosome-binding domains in the transcriptional co-activator SPBP

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3445574

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23028815

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

It takes a PHD to SUMO

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23028815

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0045155

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference