|
Severe intellectual disability
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics.
|
29724491 |
2019 |
|
ovarian neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
Integrative proteogenomic analyses of human tumours identifies ADNP as a novel oncogenic mediator of cell cycle progression in high-grade serous ovarian cancer with poor prognosis.
|
31767542 |
2019 |
|
Malignant neoplasm of ovary
|
0.010 |
Biomarker
|
disease |
BEFREE |
Integrative proteogenomic analyses of human tumours identifies ADNP as a novel oncogenic mediator of cell cycle progression in high-grade serous ovarian cancer with poor prognosis.
|
31767542 |
2019 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
Integrative proteogenomic analyses of human tumours identifies ADNP as a novel oncogenic mediator of cell cycle progression in high-grade serous ovarian cancer with poor prognosis.
|
31767542 |
2019 |
|
Diabetic Retinopathy
|
0.010 |
Biomarker
|
disease |
BEFREE |
More recently, we have shown that a small peptide derived from the activity-dependent neuroprotective protein (ADNP), known as NAP, counteracts damages occurring during progression of diabetic retinopathy by modulating HIFs/VEGF pathway.
|
28436035 |
2018 |
|
Blepharophimosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
From a clinical standpoint, a differential diagnosis of patients with blepharophimosis should include ADNP mutations in addition to blepharophimosis ptosis epicanthus inversus syndrome, especially when intellectual disability is present.
|
28407407 |
2017 |
|
Malignant tumor of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We induced ADNP expression in colon cancer xenografts by low-dose ketamine <i>in vivo</i> Clinical associations were determined in a cohort of 221 human colorectal cancer cases.<b>Results:</b> ADNP was overexpressed in colon cancer cells with high WNT activity, where it acted as a WNT repressor.
|
27903678 |
2017 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In human patients with colon cancer, high ADNP expression was linked to good prognosis.<b>Conclusions:</b> Our findings indicate that ADNP is a tumor suppressor and promising prognostic marker, and that ketamine treatment with ADNP induction is a potential therapeutic approach that may add benefit to current treatment protocols for patients with colorectal cancer.<i></i>.
|
27903678 |
2017 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
In human patients with colon cancer, high ADNP expression was linked to good prognosis.<b>Conclusions:</b> Our findings indicate that ADNP is a tumor suppressor and promising prognostic marker, and that ketamine treatment with ADNP induction is a potential therapeutic approach that may add benefit to current treatment protocols for patients with colorectal cancer.<i></i>.
|
27903678 |
2017 |
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We suggest that this specific class of ADNP mutation is likely associated with a blepharophimosis syndrome phenotype.
|
28407407 |
2017 |
|
Congenital Epicanthus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
From a clinical standpoint, a differential diagnosis of patients with blepharophimosis should include ADNP mutations in addition to blepharophimosis ptosis epicanthus inversus syndrome, especially when intellectual disability is present.
|
28407407 |
2017 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We induced ADNP expression in colon cancer xenografts by low-dose ketamine <i>in vivo</i> Clinical associations were determined in a cohort of 221 human colorectal cancer cases.<b>Results:</b> ADNP was overexpressed in colon cancer cells with high WNT activity, where it acted as a WNT repressor.
|
27903678 |
2017 |
|
Mild cognitive disorder
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
ADNP mRNA increases in lymphocytes derived from schizophrenia patients and in patients suffering from mild cognitive impairment (MCI) and further increases in Alzheimer's disease patients compared with controls.Serum ADNP levels correlate with IQ.
|
27870441 |
2017 |
|
Trichohepatoenteric Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent <i>de novo</i> mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome.
|
28579975 |
2017 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
Biomarker
|
disease |
BEFREE |
In human patients with colon cancer, high ADNP expression was linked to good prognosis.<b>Conclusions:</b> Our findings indicate that ADNP is a tumor suppressor and promising prognostic marker, and that ketamine treatment with ADNP induction is a potential therapeutic approach that may add benefit to current treatment protocols for patients with colorectal cancer.<i></i>.
|
27903678 |
2017 |
|
Cognition Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment.
|
22956189 |
2012 |
|
Multiple Sclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
ADNP mRNA was reduced in MS compared to control peripheral blood.
|
19923857 |
2010 |
|
Mental Retardation
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this patient, four genes (MOCS3, DPM1, ADNP, BCAS4) are deleted, which were not affected in the other three cases, suggesting that the deletion of one or more of these genes contributes to the mental retardation.
|
17623483 |
2007 |
|
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/-) causes cognitive impairments.
|
30106381 |
2018 |
|
Exanthema
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
|
28675391 |
2017 |
|
Exanthema
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Here, collaborating with parents/caregivers globally, we discovered premature tooth eruption as a potential early diagnostic biomarker for ADNP mutation.
|
28221363 |
2017 |
|
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment.
|
22956189 |
2012 |
|
Tauopathies
|
0.030 |
GeneticVariation
|
group |
BEFREE |
The large fusiform gyrus library (117 subjects) with high sequencing coverage correlated the c.2187_2188insA ADNP mutation frequency to Braak stage (tauopathy) and showed more ADNP mutations in AD specimens.
|
31664177 |
2019 |
|
Malignant Neoplasms
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Such a general role of ChAHP in governing cell fate plasticity may explain why ADNP mutations affect several organs and body functions and contribute to cancer progression<sup>1,3,4</sup>.
|
29795351 |
2018 |
|
Primary malignant neoplasm
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Such a general role of ChAHP in governing cell fate plasticity may explain why ADNP mutations affect several organs and body functions and contribute to cancer progression<sup>1,3,4</sup>.
|
29795351 |
2018 |