|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome.
|
29911927 |
2018 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in ADNP, which encodes activity-dependent neuroprotective protein (ADNP), have recently been found to underlie Helsmoortel-Van der Aa syndrome, a complex neurological developmental disorder that also affects several other organ functions <sup>1</sup> .
|
29795351 |
2018 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome.
|
27870441 |
2017 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
AlteredExpression
|
disease |
BEFREE |
Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy.
|
28807863 |
2017 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS).
|
29475819 |
2018 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel-van der Aa syndrome.
|
28407407 |
2017 |
|
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
0.770 |
Biomarker
|
disease |
BEFREE |
Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism.
|
29899371 |
2018 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD) patients.
|
25646590 |
2015 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Overlapping all tested brain areas identified unique and shared mutations, with ADNP singled out as a gene associated with autism/ID/AD and presenting several unique aging/AD mutations.
|
31664177 |
2019 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease.
|
28940660 |
2017 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
NAP (NAPVSIPQ) is a small peptide derived from the activity-dependent neuroprotective protein (ADNP), which provides neuroprotection against amyloid-β peptide toxicity associated with Alzheimer disease.
|
31550911 |
2020 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
The recent finding of activity-dependent neuroprotective protein (ADNP) as a protein decreased in serum of patients with Alzheimer's disease (AD) compared to controls, alongside with the discovery of ADNP mutations in autism and coupled with the original description of cancer mutations, ignited an interest for a comparative analysis of ADNP with other AD/autism/cancer-associated genes.
|
25428252 |
2015 |
|
Alzheimer's Disease
|
0.070 |
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 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Peripheral ADNP was also discovered as a biomarker for Alzheimer's disease and schizophrenia, with nasal administration of the ADNP snippet peptide NAP (enhancing endogenous ADNP activity) leading to partial cognitive and functional protection at the cellular, animal and clinical settings.
|
30664622 |
2019 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems.
|
29724491 |
2019 |
|
Autism Spectrum Disorders
|
0.090 |
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 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene.
|
28221363 |
2017 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.
|
24531329 |
2014 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Respectively, mutations in the human ADNP gene (ADNP syndrome), cause multi-system body dysfunctions with apparent ASD-related traits, commencing as early as childhood.
|
30659505 |
2019 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder.
|
30679581 |
2019 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41).
|
30107084 |
2018 |
|
Autism Spectrum Disorders
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP.
|
31035039 |
2019 |
|
Autism Spectrum Disorders
|
0.090 |
Biomarker
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD) patients.
|
25646590 |
2015 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP.
|
25955282 |
2016 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes.
|
29724491 |
2019 |