|
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 |
|
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 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BAP1 negatively affected OS, whereas SETD2 and KDM5C mutations were associated with prolonged OS in our pooled cohort of 167 patients with metastatic ccRCC.
|
28408295 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To investigate associations between computed tomographic (CT) features of clear cell renal cell carcinoma (RCC) and mutations in VHL, PBRM1, SETD2, KDM5C, or BAP1 genes.
|
24029645 |
2014 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma.
|
24166983 |
2014 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Here, we report on a female patient with severe ID and autistic features carrying a de novo 0.4 Mb deletion containing six coding genes including KDM5C and IQSEC2.
|
25858702 |
2015 |
|
Intellectual Disability
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8.
|
31691806 |
2019 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in KDM5C are an important cause of X-linked intellectual disability in males.
|
25666439 |
2015 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
A novel mutation in JARID1C gene associated with mental retardation.
|
16538222 |
2006 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
|
23246292 |
2013 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Loss-of-function mutations in the histone demethylases KDM5A, KDM5B, or KDM5C are found in intellectual disability (ID) and autism spectrum disorders (ASD) patients.
|
30902578 |
2019 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
To access the impact of KDM5C variants on XLID, a cohort of 143 males with a family history of intellectual disability (ID) suggestive of X-linked inheritance were enrolled.
|
24583395 |
2014 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
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 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Intriguingly, mutations within the genes encoding the H3K9-specific methyltransferase, EHMT1, and the H3K4-specific histone demethylase, JARID1C/SMCX, have been linked to mental retardation and autism, respectively.
|
18814864 |
2009 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype.
|
21575681 |
2011 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Some genes were hit more than once in our cohort, suggesting they correspond to more frequent ID-associated conditions (KDM5C, MECP2, DYRK1A, TCF4).
|
25167861 |
2014 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
|
31419599 |
2020 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
|
22326837 |
2012 |
|
Autistic Disorder
|
0.440 |
Biomarker
|
disease |
BEFREE |
Intriguingly, mutations within the genes encoding the H3K9-specific methyltransferase, EHMT1, and the H3K4-specific histone demethylase, JARID1C/SMCX, have been linked to mental retardation and autism, respectively.
|
18814864 |
2009 |