|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern.
|
31746429 |
2020 |
|
Cerebrovascular accident
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Isolated low levels of high-density lipoprotein cholesterol and stroke incidence: JMS Cohort Study.
|
31742753 |
2020 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
α-Thalassemia X-linked intellectual disability (ATR-X) syndrome is a neurodevelopmental disorder caused by mutations in the ATRX gene that encodes a SNF2-type chromatin-remodeling protein.
|
31713968 |
2019 |
|
Microcephaly
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
The ATRX protein regulates chromatin structure and gene expression in the developing mouse brain and early inactivation leads to DNA replication stress, extensive cell death, and microcephaly.
|
31713968 |
2019 |
|
Glioblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we have uncovered the existence, in anaplastic astrocytomas but not in glioblastomas with the same IDH and ATRX mutations, of a correlation between patient age and the level of activity of ALT, a telomerase-independent pathway of telomere maintenance.
|
31706351 |
2019 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Particularly intriguing are the large N-terminal deletions of ATRX (Alpha Thalassemia/Mental Retardation, X-linked) that generate in-frame fusion (IFF) proteins devoid of key chromatin interaction domains, while retaining the SWI/SNF-like helicase region.
|
31631027 |
2019 |
|
Neuroblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Taken together, we demonstrate that ATRX structural alterations are not loss-of-function and put forward EZH2 inhibitors as a potential therapy for ATRX IFF neuroblastoma.
|
31631027 |
2019 |
|
Central neuroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Taken together, we demonstrate that ATRX structural alterations are not loss-of-function and put forward EZH2 inhibitors as a potential therapy for ATRX IFF neuroblastoma.
|
31631027 |
2019 |
|
Childhood Neuroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Taken together, we demonstrate that ATRX structural alterations are not loss-of-function and put forward EZH2 inhibitors as a potential therapy for ATRX IFF neuroblastoma.
|
31631027 |
2019 |
|
Adenocarcinoma
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Here, we generate an ALT-positive adenocarcinoma cell line following functional inactivation of ATRX and telomerase in a telomerase-positive adenocarcinoma cell line.
|
31611308 |
2019 |
|
Pancreatic Ductal Adenocarcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These DEG expression patterns in PanNETs are quite different from that of pancreatic ductal adenocarcinoma and are related to A-D-M (ATRX-DAXX-MEN1) mutation.
|
31607839 |
2019 |
|
Neoplasm Metastasis
|
0.050 |
GeneticVariation
|
phenotype |
BEFREE |
Additionally, loss of ATRX or TSC2 was significantly associated with nodal metastasis.
|
31599805 |
2019 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
AZD1775 also selectively inhibited the proliferation of patient-derived primary cell lines from gliomas with naturally occurring ATRX mutations, indicating that the synthetic lethal relationship between WEE1 and ATRX could be exploited in a broader spectrum of human tumors.
|
31551363 |
2020 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
As WEE1 inhibitors have been investigated in several phase II clinical trials, our discovery provides the basis for an easily clinically testable therapeutic strategy specific for cancers deficient in ATRX.
|
31551363 |
2020 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
AZD1775 also selectively inhibited the proliferation of patient-derived primary cell lines from gliomas with naturally occurring ATRX mutations, indicating that the synthetic lethal relationship between WEE1 and ATRX could be exploited in a broader spectrum of human tumors.
|
31551363 |
2020 |
|
Malignant neoplasm of liver
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The tumor suppressor gene ATRX is frequently mutated in a variety of tumors including gliomas and liver cancers, which are highly unresponsive to current therapies.
|
31551363 |
2020 |
|
Liver carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Treatment with the WEE1 inhibitor AZD1775 robustly inhibited the growth of several ATRX-deficient HCC cell lines in vitro, as well as xenografts in vivo.
|
31551363 |
2020 |
|
Solid Neoplasm
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumors.
|
31462295 |
2019 |
|
Adenocarcinoma
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Strong ATRX protein expression is associated with a significantly longer overall survival in patients with AC.
|
31374064 |
2019 |
|
Precocious pubarche
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
|
31319423 |
2019 |
|
Neuroblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, relaying on negative immunohistochemistry for ATRX protein to identify ALT in neuroblastoma may miss a significant proportion of patients.
|
31290759 |
2019 |
|
Central neuroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
However, relaying on negative immunohistochemistry for ATRX protein to identify ALT in neuroblastoma may miss a significant proportion of patients.
|
31290759 |
2019 |
|
Childhood Neuroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
However, relaying on negative immunohistochemistry for ATRX protein to identify ALT in neuroblastoma may miss a significant proportion of patients.
|
31290759 |
2019 |
|
High-Risk Neuroblastoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A common theme in high-risk neuroblastoma is maintenance of telomeres, one mechanism for which involves alternate lengthening of telomeres (ALT) associated with ATRX gene mutations.
|
31290759 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Furtherwhole exome sequencing of the patient's tumor tissue and leukocytes (served as a germline mutation control) revealed 613 somatic gene mutations, and of which mutations in PRIM2, KCNB1, CDH1, and ATRX were most likely related to the LELC pathogenesis.
|
31248429 |
2019 |