(Q33698314)

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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

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28 July 2017

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. (English)

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28 July 2017

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28 July 2017

Sigmar Stricker

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Sigmar Stricker

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Andreas Janecke

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Andreas R Janecke

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28 July 2017

Martine Raynaud

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Martine Raynaud

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Jean-Pierre Fryns

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Jean-Pierre Fryns

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28 July 2017

15

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Ben Hamel

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28 July 2017

Arjan P M de Brouwer

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Arjan Pm de Brouwer

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28 July 2017

Hans-Hilger Ropers

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Hans-Hilger Ropers

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28 July 2017

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Lars R Jensen

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28 July 2017

Heinz Bartenschlager

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28 July 2017

Sinitdhorn Rujirabanjerd

3

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28 July 2017

Andreas Tzschach

4

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28 July 2017

Astrid Nümann

5

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28 July 2017

Ralf Spörle

7

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28 July 2017

John Nelson

10

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28 July 2017

Anna Hackett

11

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28 July 2017

Jamel Chelly

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28 July 2017

Andreas W Kuss

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28 July 2017

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2 February 2010

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28 July 2017

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28 July 2017

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28 July 2017

1

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28 July 2017

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28 July 2017

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2830949/fullTextXML

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CZ Software Mentions: A large dataset of software mentions in the biomedical literature

https://scigraph.springernature.com/pub.10.1186/1755-8417-3-2

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

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=2830949

21 June 2018

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

Repression of Smad3 activity by histone demethylase SMCX/JARID1C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

JARID1B is a histone H3 lysine 4 demethylase up-regulated in prostate cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype

1 reference

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21 June 2018

The KLHL12-Cullin-3 ubiquitin ligase negatively regulates the Wnt-beta-catenin pathway by targeting Dishevelled for degradation

1 reference

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

A novel mutation in JARID1C gene associated with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

21 June 2018

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

1 reference

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Process elongation of oligodendrocytes is promoted by the Kelch-related protein MRP2/KLHL1.

1 reference

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30 October 2018

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

30 October 2018

Large-scale screen for genes controlling mammalian embryogenesis, using high-throughput gene expression analysis in mouse embryos.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830949

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20181063

12 December 2020

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Identifiers

10.1186/1755-8417-3-2

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Europe PubMed Central

PubMed publication ID

28 July 2017

Dimensions Publication ID

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PMC publication ID

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Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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