MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
|
17468742 |
2007 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
|
25666439 |
2015 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in JARID1C gene associated with mental retardation.
|
16538222 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
MGD |
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.
|
26804915 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
|
15586325 |
2005 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
Mutations in <i>KDM5C</i> cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID.
|
29670509 |
2018 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
|
15586325 |
2005 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
|
23356856 |
2013 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel syndromic form of X-linked complicated spastic paraplegia.
|
10982473 |
2000 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
|
23356856 |
2013 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
|
17320160 |
2007 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Together, these data suggest that inactivation of JARID1C in renal cancer leads to heterochromatin disruption, genomic rearrangement, and aggressive ccRCCs.
|
26551685 |
2015 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Consistent with this, knockdown of JARID1C in 786-O VHL-/- ccRCC cells significantly enhanced tumor growth in a xenograft model, suggesting that JARID1C is tumor suppressive and its mutations are tumor promoting in ccRCC.
|
21725364 |
2012 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We excluded the samples that had any of the five high-confidence driver genes (VHL, BAP1, SETD2, PTEN and KDM5C) reported in ccRCC to avoid their possible influence in our results.
|
27556922 |
2016 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
DNA was extracted and targeted sequencing was performed on five genes associated with ccRCC (von-Hippel Lindau [VHL], PBRM1, SETD2, BAP1, and KDM5C).
|
25124064 |
2014 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although von Hippel-Lindau (VHL) tumor suppressor gene alterations dominate the genetic landscape of clear cell renal cell carcinoma (ccRCC), recent studies have identified new ccRCC genes, including SETD2, KDM6A, KDM5C, BAP1 and PBRM1.
|
22949125 |
2013 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
KDM5C and ARID1A were unmethylated in the TCGA 219 ccRCC and 119 adjacent normal specimens.
|
23644518 |
2013 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Combined analysis of three recent large-scale clear cell renal cell carcinoma (CCRCC) mutation sequencing projects identified a significantly increased mutation frequency of PBRM1 and the X chromosome encoded KDM5C in tumors from male patients and BAP1 in tumors from female patients.
|
26484545 |
2015 |