Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
BEFREE |
Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses.
|
27903633 |
2017 |
Riddle Syndrome
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, high frequency of RNF168 c.640_644del5 indicates the need for its testing in Finnish patients with RIDDLE syndrome symptoms.
|
28386063 |
2017 |
Riddle Syndrome
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
To evaluate RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties), we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency.
|
28432740 |
2017 |
Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.
|
29255463 |
2017 |
Riddle Syndrome
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Here we report that RNF168, an E3 ligase mutated in the human RIDDLE syndrome, interacts with TOP2α and mediates its ubiquitylation.
|
27558965 |
2016 |
Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
MGD |
In addition, RNF168 mutations have been causally linked to the human RIDDLE syndrome.
|
21552324 |
2011 |
Riddle Syndrome
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown.
|
21626679 |
2011 |
Riddle Syndrome
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We focus on a newly described human immunodeficiency disorder called radiosensitivity, immunodeficiency dysmorphic features and learning difficulties (RIDDLE) syndrome, with particular reference to the function of the defective gene, RNF168.
|
21426255 |
2011 |
Riddle Syndrome
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.
|
21394101 |
2011 |
Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
BEFREE |
These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome.
|
19203578 |
2009 |
Riddle Syndrome
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome.
|
19203578 |
2009 |
Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
|
17940005 |
2007 |
Riddle Syndrome
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|
Riddle Syndrome
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
|
|
|