|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation.
|
30803555 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.
|
16266892 |
2005 |
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
In one ATMDS case where DNA samples from several time points were available, the proportion of ATRX-mutant subclones correlated with changes in the amount of hemoglobin H. This study strengthens the link between acquired, somatic ATRX mutations and ATMDS, illustrates how molecular defects associated with MDS and other hematologic malignancies masked by somatic mosaicism may be detected by DHPLC, and shows that additional factors increase the severity of the hematologic phenotype of ATRX mutations in ATMDS.
|
14592816 |
2004 |
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Using this approach, we have shown that in individuals with myelodysplasia associated with alpha-thalassemia (ATMDS), somatic mutations of the gene encoding the chromatin remodeling factor ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene.
|
12858175 |
2003 |
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
|
16480427 |
2006 |
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
LHGDN |
In one ATMDS case where DNA samples from several time points were available, the proportion of ATRX-mutant subclones correlated with changes in the amount of hemoglobin H. This study strengthens the link between acquired, somatic ATRX mutations and ATMDS, illustrates how molecular defects associated with MDS and other hematologic malignancies masked by somatic mosaicism may be detected by DHPLC, and shows that additional factors increase the severity of the hematologic phenotype of ATRX mutations in ATMDS.
|
14592816 |
2004 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, CDKN loss, ATRX mutation and coexisting gain of chromosome 7/loss of chromosome 10 showed no clinical significance in this glioma entity.
|
30298540 |
2019 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.
|
23104868 |
2012 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The presence of ATRX mutations in glioma serves as a marker of better prognosis with longer patient survival although the underlying mechanisms are poorly understood.
|
29378238 |
2018 |
|
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 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of the ATRX gene have been found in various subtypes and grades of gliomas and were shown to refine the prognosis of malignant gliomas in combination with IDH and 1p/19q status.
|
24559763 |
2014 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors.
|
22869205 |
2012 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Subsequent subgroup analysis largely confirms many of the currently used molecular classification schemes for diffuse gliomas (ATRX or TP53 mutations, 1p19q codeletion).
|
26699864 |
2015 |
|
Glioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The classification of gliomas has been restructured with the discovery of isocitrate dehydrogenase (IDH) 1/2 mutations in the vast majority of lower grade infiltrating gliomas and secondary glioblastomas (GBM), with IDH-mutant astrocytomas further characterized by TP53 and ATRX mutations.
|
29521646 |
2018 |
|
Neuroblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These rearrangements occurred only in high-risk neuroblastomas (12/39, 31%) in a mutually exclusive fashion with MYCN amplifications and ATRX mutations, which are known genetic events in this tumour type.
|
26466568 |
2015 |
|
Neuroblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Whole genome sequencing of the index liver metastasis identified 44 non-synonymous somatic mutations in 42 genes (0.85 mutation/MB) and a large hemizygous deletion in the ATRX gene which has been recently reported in neuroblastoma.
|
24147068 |
2013 |
|
Neuroblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, alterations of ATRX or DAXX, which both encode chromatin remodeling proteins in telomeric region, and their relationship to ALT were examined in NBLs.
|
25487495 |
2014 |
|
Neuroblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further evaluate performance on 222 neuroblastoma samples with matched normals and focus on a well-studied rare somatic CNV within the ATRX gene.
|
25618849 |
2015 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome).
|
21505078 |
2011 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes.
|
21218045 |
2011 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is caused by a mutation in the ATRX gene, which is also involved in other syndromic forms of XLMR as well as in non-syndromic XLMR, both in males and in females.
|
16763962 |
2006 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATRX gene are associated with X-linked mental retardation (XLMR) often accompanied by alpha thalassemia (ATRX syndrome).
|
20110566 |
2010 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An expanding phenotype of the ATRX gene (a RAD54 homologue encoding a putative zinc-finger helicase) has been demonstrated as a result of the association of single mutations with specific X-linked mental retardation syndromes.
|
12673795 |
2003 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATRX are associated with a wide and clinically heterogeneous spectrum of X-linked mental retardation syndromes.
|
16813605 |
2006 |
|
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The chromatin-associated protein ATRX was originally identified because mutations in the ATRX gene cause a severe form of syndromal X-linked mental retardation associated with alpha-thalassemia.
|
17609377 |
2007 |