(Q37013268)

17 August 2017

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

1 reference

17 August 2017

F E Abidi

1

1 reference

17 August 2017

L Holloway

2

1 reference

17 August 2017

C A Moore

3

1 reference

17 August 2017

D D Weaver

4

1 reference

17 August 2017

R J Simensen

5

1 reference

17 August 2017

R E Stevenson

6

1 reference

17 August 2017

R C Rogers

7

1 reference

17 August 2017

C E Schwartz

8

1 reference

17 August 2017

language of work or name

English

0 references

publication date

12 August 2008

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

45

1 reference

17 August 2017

12

1 reference

17 August 2017

787-793

1 reference

17 August 2017

XLMR genes: update 2007.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

The renaming of mental retardation: understanding the change to the term intellectual disability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

JmjC-domain-containing proteins and histone demethylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

X-linked mental retardation: many genes for a complex disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

A novel mutation in JARID1C gene associated with mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Impact of specific medical interventions on reducing the prevalence of mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Advances in X-linked mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

X linked mental retardation: a clinical guide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

X-linked mental retardation: further lumping, splitting and emerging phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Structure and DNA-binding sites of the SWI1 AT-rich interaction domain (ARID) suggest determinants for sequence-specific DNA recognition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

ARID proteins come in from the desert

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 national health interview survey disability supplements.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711528

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

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18697827

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18697827

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18697827

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2008.058990

1 reference

17 August 2017

1 reference

17 August 2017

1 reference