Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (Q34328652)

1 August 2017

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (English)

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genotype-phenotype correlation

1 August 2017

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13

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1 August 2017

5

Sarah Edkins

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1 August 2017

Shigeki Iwase

9

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P. Andrew Futreal

11

object named as

P Andrew Futreal

1 reference

1 August 2017

12

Michael R Stratton

1 reference

1 August 2017

3

Patrick S Tarpey

1 reference

1 August 2017

Sinitdhorn Rujirabanjerd

1

object named as

Sinitdhorn Rujirabanjerd

1 reference

1 August 2017

John Nelson

2

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1 August 2017

Anna Hackett

4

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1 August 2017

F Lucy Raymond

6

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1 August 2017

Charles E Schwartz

7

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1 August 2017

Gillian Turner

8

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1 August 2017

Yang Shi

10

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1 August 2017

14 October 2009

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European Journal of Human Genetics

1 August 2017

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1 August 2017

18

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1 August 2017

3

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1 August 2017

330-335

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.175

1 August 2017

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cites work

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

The multiple lives of NMD factors: balancing roles in gene and genome regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

cDNA cloning, bioinformatic and tissue-specific expression analysis of porcine JARID1C gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Repression of Smad3 activity by histone demethylase SMCX/JARID1C

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

ING2 PHD domain links histone H3 lysine 4 methylation to active gene repression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

A novel mutation in JARID1C gene associated with mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Genetic variation of CACNA1H in idiopathic generalized epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

ARID proteins come in from the desert

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Association of attention-deficit disorder and the dopamine transporter gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

Localization of non-specific X-linked mental retardation genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987212

TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.175

Cell biology: Nondisjunction, aneuploidy and tetraploidy (Reply)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.175

A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19826449

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.175

1 reference

1 August 2017

1 reference

1 August 2017

1 reference