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 |
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 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
© 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD).
|
30107084 |
2018 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation.
|
25428252 |
2015 |
Autistic Disorder
|
0.500 |
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 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP), vital for brain formation and cognitive function, is mutated in autism and linked to neurodegenerative/psychiatric diseases.
|
28115743 |
2017 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings tie for the first time a reduction in presynaptic glutamatergic synapses with the autism/Alzheimer's/schizophrenia-linked ADNP deficiency coupled with amelioration by NAP (CP201).
|
30664622 |
2019 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Also, ADNP was found to be mutated in an autism/ID syndrome.
|
25169878 |
2014 |
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
|
25169753 |
2014 |
Autistic Disorder
|
0.500 |
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 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease.
|
27870441 |
2017 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children.
|
30106381 |
2018 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease.
|
28940660 |
2017 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG), is vital for mammalian brain formation and presents one of the leading genes mutated de novo causing an autistic syndrome, namely the ADNP syndrome.
|
31534115 |
2019 |
Schizophrenia
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).
|
24365867 |
2015 |
Schizophrenia
|
0.360 |
Biomarker
|
disease |
BEFREE |
It is important to note that ADNP is sexually regulated in the brains of birds, mice, and men and in lymphocytes of patients suffering from schizophrenia.
|
27870441 |
2017 |
Schizophrenia
|
0.360 |
Biomarker
|
disease |
BEFREE |
To evaluate a possible involvement of ADNP and ADNP2 in the pathophysiology of schizophrenia in humans, we measured relative brain mRNA transcripts of both proteins compared with control subjects.
|
20598862 |
2011 |
Schizophrenia
|
0.360 |
Biomarker
|
disease |
BEFREE |
One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia.
|
28940660 |
2017 |