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 |
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 |
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 |
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 |
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 |
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 |
We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children.
|
30106381 |
2018 |
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 |
Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease.
|
27870441 |
2017 |
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 |
The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP.
|
25955282 |
2016 |
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 |
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 |