|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Among them, the IERs involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2-4 were the molecular lesions specific to tumors and were frequently detected in B-NHL samples.
|
31686349 |
2020 |
|
B-Cell Lymphomas
|
0.010 |
Biomarker
|
group |
BEFREE |
Recurrent intragenic exon rearrangements of SOBP and AUTS2 in non-Hodgkin B-cell lymphoma.
|
31686349 |
2020 |
|
Hepatosplenic T-cell lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The gene encoding AUTS2 is located at chromosome 7q11 and may represent a basic target of the HSTL hallmark aberration i(7q).
|
31143370 |
2019 |
|
Hirschsprung Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Although functional evaluation is required, we supply new evidence for the NRG1 to HSCR and raised up a new susceptibility gene AUTS2 to a specific symptom for the disease.
|
29377512 |
2018 |
|
Cognition Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
We focused on Auts2, a gene linked to human evolution and cognitive disorders, which displays strong clustering of cocaine-induced chromatin modifications in this brain region.
|
28577753 |
2017 |
|
Palmar-plantar erythrodysesthesia syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study did not identify any associations with PPES meeting the genome-wide significance threshold, but top variants were enriched for skin expression quantitative trait loci, including rs11764092 in AUTS2 (P = 6.45 × 10<sup>-5</sup> ).
|
28493546 |
2017 |
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
As shown recently, chromatin-modulator AUTS2 is overexpressed in T-ALL subsets where it mediates aberrant transcriptional activation of MSX1.
|
28977998 |
2017 |
|
Alcoholic Intoxication, Chronic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, the frequencies of the AUTS2 haplotypes were significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence (p=0.0187).
|
26763194 |
2016 |
|
Leukemia, T-Cell
|
0.010 |
Biomarker
|
disease |
BEFREE |
Deregulation of polycomb repressor complex 1 modifier AUTS2 in T-cell leukemia.
|
27322685 |
2016 |
|
ATRIOVENTRICULAR CANAL DEFECT
|
0.010 |
Biomarker
|
disease |
BEFREE |
IL1B was the hub-gene of PPI networks, and AUTS2 and KIAA2022 were predicted to be targeted by miR-518a, miR518e, miR-518f, miR-528a, and miR-96.IL1B, IL12RB2, AUTS2, and KIAA2022 might participate in AVSD in DS patients, and AUTS2 and KIAA2022 might be targeted by miR-518a, miR-518e, miR-518f, miR-528a, and miR-96.
|
27396555 |
2016 |
|
Atrioventricular Septal Defect
|
0.010 |
Biomarker
|
disease |
BEFREE |
IL1B was the hub-gene of PPI networks, and AUTS2 and KIAA2022 were predicted to be targeted by miR-518a, miR518e, miR-518f, miR-528a, and miR-96.IL1B, IL12RB2, AUTS2, and KIAA2022 might participate in AVSD in DS patients, and AUTS2 and KIAA2022 might be targeted by miR-518a, miR-518e, miR-518f, miR-528a, and miR-96.
|
27396555 |
2016 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features.
|
24459036 |
2014 |
|
Speech and language disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet.
|
24459036 |
2014 |
|
Acquired flat foot
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet.
|
24459036 |
2014 |
|
Congenital flat foot
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet.
|
24459036 |
2014 |
|
Delirium, Dementia, Amnestic, Cognitive Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Our observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.
|
23332918 |
2013 |
|
Neurocognitive Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Our observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.
|
23332918 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Using this technique, we found that the PAX5 gene was rearranged to a variety of partner genes including ETV6, FOXP1, AUTS2, and C20orf112 in pediatric acute lymphoblastic leukemia (ALL).
|
18697940 |
2008 |
|
Mental Retardation
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.
|
17211639 |
2007 |
|
Pervasive Development Disorder
|
0.020 |
GeneticVariation
|
group |
BEFREE |
An induced pluripotent stem cell (iPSC) line was generated from human urine-derived cells of a 4 year-old boy with autism spectrum disorder(ASD) and developmental delay (DD) carrying a 830 kb de novo deletion at chromosome 7q11.22 disrupting the first exon and promoter region of AUTS2.
|
31505389 |
2019 |
|
nervous system disorder
|
0.020 |
Biomarker
|
group |
BEFREE |
The autism susceptibility candidate 2 (<i>AUTS2</i>) gene has been implicated in multiple neurological disorders.
|
29042895 |
2017 |
|
Acute lymphocytic leukemia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
While the non-coding gene STAG3L4 was inconspicuously expressed, AUTS2 was aberrantly upregulated in 6% of T-ALL patients (public dataset GSE42038) and in 3/24 T-ALL cell lines, two of which represented very immature differentiation stages.
|
27322685 |
2016 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
While the non-coding gene STAG3L4 was inconspicuously expressed, AUTS2 was aberrantly upregulated in 6% of T-ALL patients (public dataset GSE42038) and in 3/24 T-ALL cell lines, two of which represented very immature differentiation stages.
|
27322685 |
2016 |
|
Pervasive Development Disorder
|
0.020 |
GeneticVariation
|
group |
BEFREE |
De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
|
25851617 |
2015 |
|
Dysmorphic features
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features.
|
24459036 |
2014 |