Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Phosphatase and tensin homolog on chromosome 10 (PTEN) is a tumor suppressor and autism-associated gene that exerts an important influence over neuronal structure and function during development.
|
31240311 |
2020 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.
|
31006514 |
2019 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This regional and WM enlargement recapitulates structural abnormalities found in individuals with PTEN haploinsufficiency and autism.
|
31804455 |
2019 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results lend insight into distinctive structural effects of germline PTEN mutations associated with PTEN-ASD vs. those associated with PTEN-cancer, potentially aiding in identification of the shared and separate molecular features that contribute to autism or cancer, thus, providing a deeper understanding of genotype-phenotype relationships for germline PTEN mutations.
|
29663862 |
2019 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
To investigate PTEN's role during neurodevelopment and its implication for autism, several conditional <i>Pten</i> knockout mouse models have been generated.
|
31427284 |
2019 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the PTEN gene was identified in a 16-year-old girl with autism, mental retardation, language delay, extreme macrocephaly (+4.7SD) with a prominent forehead, and digital minor anomalies.
|
28774669 |
2018 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly.
|
29608813 |
2018 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism.
|
28677221 |
2017 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Especially useful would be an algorithm for predicting the impact of nonsynonymous single-nucleotide polymorphisms in the gene for PTEN, a protein that is implicated in most human cancers and connected to germline disorders that include autism.
|
27310656 |
2016 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Reciprocal regulation of autism-related genes MeCP2 and PTEN via microRNAs.
|
26843422 |
2016 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
|
25288137 |
2015 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic spectrum of PTEN mutations expanded to include autism with macrocephaly only 10 years ago.
|
25916396 |
2015 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our work implies that alleles causing incomplete loss of PTEN function are more commonly linked to autism than to severe PHTS cases.
|
25527629 |
2015 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Variants of human PTEN linked to somatic cancers and disorders on the autism spectrum are shown to be impaired in their conformational stability, catalytic activity, or both.
|
25647146 |
2015 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk.
|
26076356 |
2015 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
|
24580998 |
2014 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
De novo phosphatase and tensin homolog on chromosome ten (PTEN) mutations are a cause of sporadic autism.
|
24145404 |
2013 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PHTS patients with destabilizing PTEN mutations and proteasome hyperactivity are more susceptible to develop neurologic symptoms such as mental retardation and autism than mutation-positive patients with normal proteasome activity.
|
23475934 |
2013 |
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
GABRB3, RELN, and HTR2A showed reduced expression, whereas CD38, ITGB3, MAOA, MECP2, OXTR, and PTEN showed elevated expression in autism.
|
22030357 |
2012 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, emerging data suggest that PTEN mutation can synergize with mutations in other autism susceptibility genes to contribute to the development of autistic behaviors.
|
22664040 |
2012 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.
|
21960672 |
2012 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
|
20533527 |
2010 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
|
18759867 |
2009 |