|
Brain Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders.
|
30982501 |
2019 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
|
30021865 |
2019 |
|
X-linked infantile spasms
|
0.010 |
Biomarker
|
disease |
BEFREE |
Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders.
|
30982501 |
2019 |
|
Muscular fasciculation
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We find that CYFIP2 mediates homotypic and heterotypic contact-triggered fasciculation and repulsion responses between dorsal and ventral axons.
|
29518358 |
2018 |
|
Bulimia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We validated Cyfip2 as a major genetic factor underlying binge eating in heterozygous knockout mice on a C57BL/6N background that showed reduced binge eating toward a wild-type C57BL/6J-like level.
|
27914629 |
2017 |
|
Carcinogenesis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
However, whether decreased expression of CYFIP2 contributes to gastric carcinogenesis remains unclear.
|
28454373 |
2017 |
|
Tumor Progression
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Although the deregulated expression of p53R2, a p53-inducible protein and homologue of the R2 subunit of ribonucleotide reductase, has been detected in several human cancers, p53R2 roles in cancer progression and malignancy still remains controversial.
|
24486301 |
2014 |
|
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Although the deregulated expression of p53R2, a p53-inducible protein and homologue of the R2 subunit of ribonucleotide reductase, has been detected in several human cancers, p53R2 roles in cancer progression and malignancy still remains controversial.
|
24486301 |
2014 |
|
Malignant neoplasm of breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer.
|
23242139 |
2013 |
|
Presenile dementia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition to gene expression changes, the downstream target of ATM-p53 signaling - TIGAR, a p53-inducible protein, the activation of which can regulate energy metabolism and protect against oxidative stress was progressively decreased as severity of dementia evolved, but it was unaffected in subjects with SZ.
|
23861893 |
2013 |
|
Schizophrenia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition to gene expression changes, the downstream target of ATM-p53 signaling - TIGAR, a p53-inducible protein, the activation of which can regulate energy metabolism and protect against oxidative stress was progressively decreased as severity of dementia evolved, but it was unaffected in subjects with SZ.
|
23861893 |
2013 |
|
Dementia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition to gene expression changes, the downstream target of ATM-p53 signaling - TIGAR, a p53-inducible protein, the activation of which can regulate energy metabolism and protect against oxidative stress was progressively decreased as severity of dementia evolved, but it was unaffected in subjects with SZ.
|
23861893 |
2013 |
|
Breast Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer.
|
23242139 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
To this end we use human mesenchymal stem cells (hMSC) derived from the bone marrow of six ALS patients (ALS hMSC) and identified two genes, Cytoplasmic FMR Interacting Protein 2 (CyFIP2) and Retinoblastoma (Rb) Binding Protein 9 (RbBP9) with a significant decrease in post transcriptional A to I RNA editing compared to hMSC of healthy individuals.
|
22430187 |
2012 |
|
Chronic Lymphocytic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
For instance, developmental genes, in particular homeobox transcription factor genes (e.g., HLXB9, HOXA13), were more highly methylated in MCL, whereas apoptosis-related genes were enriched among targets methylated in CLL (e.g., CYFIP2, NR4A1).
|
22374828 |
2012 |
|
Retinoblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
To this end we use human mesenchymal stem cells (hMSC) derived from the bone marrow of six ALS patients (ALS hMSC) and identified two genes, Cytoplasmic FMR Interacting Protein 2 (CyFIP2) and Retinoblastoma (Rb) Binding Protein 9 (RbBP9) with a significant decrease in post transcriptional A to I RNA editing compared to hMSC of healthy individuals.
|
22430187 |
2012 |
|
Malignant tumor of colon
|
0.010 |
Biomarker
|
disease |
BEFREE |
IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2.
|
21252116 |
2011 |
|
Colon Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2.
|
21252116 |
2011 |
|
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian populations such as Chinese and Japanese.
|
19951440 |
2009 |
|
Chronic Obstructive Airway Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this paper the codon 31 polymorphism of the p53-inducible protein p21 was studied in 144 Swedish lung cancer patients and two different control groups: 95 patients with chronic obstructive pulmonary disease (COPD) and 761 healthy controls.
|
8807325 |
1996 |
|
Sarcoma
|
0.010 |
Biomarker
|
group |
BEFREE |
MDM2 is a wild-p53 inducible protein which may form a complex with p53, abrogating its function, as has been found in human sarcomas and other malignancies. p21WAF1/CIP1 is another protein inducible by wild-type p53, involved in inhibiting cell-cycle progression, through binding to cyclin/cyclin-dependent-kinase complexes.
|
8943816 |
1996 |
|
Malignant neoplasm of soft tissue
|
0.010 |
Biomarker
|
group |
BEFREE |
MDM2 is a wild-p53 inducible protein which may form a complex with p53, abrogating its function, as has been found in human sarcomas and other malignancies. p21WAF1/CIP1 is another protein inducible by wild-type p53, involved in inhibiting cell-cycle progression, through binding to cyclin/cyclin-dependent-kinase complexes.
|
8943816 |
1996 |
|
nervous system disorder
|
0.020 |
Biomarker
|
group |
BEFREE |
Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders.
|
30982501 |
2019 |
|
Neurodevelopmental Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder.
|
30664714 |
2019 |
|
nervous system disorder
|
0.020 |
GeneticVariation
|
group |
BEFREE |
An obvious association of CYFIP2 variants with human neurological disorders has never been reported.
|
29534297 |
2018 |