Log in

Relevant bibliographies by topics / ATRX / Journal articles

To see the other types of publications on this topic, follow the link: ATRX.

Journal articles on the topic 'ATRX'

Author: Grafiati

Published: 4 June 2021

Last updated: 4 March 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'ATRX.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Pask, Andrew J., Kim Huynh, and Marilyn B. Renfree. "ATRX and ATRY in the Mammalian Gonad." Biology of Reproduction 78, Suppl_1 (2008): 306. http://dx.doi.org/10.1093/biolreprod/78.s1.306a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Ratnakumar, Kajan, and Emily Bernstein. "ATRX." Epigenetics 8, no. 1 (2013): 3–9. http://dx.doi.org/10.4161/epi.23271.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Chami, Rose, Paula Marrano, Chinachote Teerapakpinyo, et al. "Immunohistochemistry for ATRX Can Miss ATRX Mutations." American Journal of Surgical Pathology 43, no. 9 (2019): 1203–11. http://dx.doi.org/10.1097/pas.0000000000001322.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Irvin, David, Hannah Roberts, Vladislav Sharin, et al. "CSIG-09. ATRX DEFICIENCY IN GLIOMA IMPACTS TRANSCRIPTIONAL PROFILES AND THE IMMUNE MICROENVIRONMENT IN VIVO." Neuro-Oncology 22, Supplement_2 (2020): ii29. http://dx.doi.org/10.1093/neuonc/noaa215.121.

Full text

Abstract:

Abstract Current treatment for diffuse astrocytoma fails to address its underlying molecular mechanisms leading to inevitable disease progression and eventual patient death. Genomic studies have implicated ATRX alterations as critical to low grade glioma biology. Our lab has previously shown in vitro that ATRX influences glioma motility, cellular differentiation state, and epigenetic programming, however, the influence of ATRX alterations in vivo remains unclear. Here, we leveraged an RCAS/tva mouse tumor model to probe the role of ATRX deficiency in glioma. Atrx deficient murine tumors exhibi

APA, Harvard, Vancouver, ISO, and other styles

5

Attieh, Youmna, Yue Wei, Hui Yang, et al. "Low Frequency of Molecular Alterations of H3.3-Atrx-Daxx Chromatin Remodeling Component Genes in Myelodysplastic Syndromes (MDS)." Blood 120, no. 21 (2012): 3844. http://dx.doi.org/10.1182/blood.v120.21.3844.3844.

Full text

Abstract:

Abstract Abstract 3844 Novel sequencing technologies have allowed identification of a group of highly recurrent genetic mutations in myelodysplastic syndromes (MDS). Of importance, it has been noticed that a majority of these mutated genes in MDS encode important components of epigenetic regulation, including both DNA methylation and histone modifications. This phenomenon highlights the importance of epigenetic mechanisms in the pathogenesis of MDS. Recently, highly recurrent somatic mutations in the Histone H3.3-ATRX-DAXX chromatin remodeling pathway have been documented in pediatric glioblas

APA, Harvard, Vancouver, ISO, and other styles

6

Danussi, Carla, Anand Singh, Pavan Pinnamaneni, et al. "GENE-34. THERAPEUTICALLY TARGETING EPIGENOMIC AND TRANSCRIPTIONAL DYSFUNCTION IN ATRX-DEFICIENT GLIOMA." Neuro-Oncology 21, Supplement_6 (2019): vi104—vi105. http://dx.doi.org/10.1093/neuonc/noz175.436.

Full text

Abstract:

Abstract Diffusely infiltrating gliomas feature loss-of-function mutations in the chromatin remodeler gene ATRX as defining molecular alterations delineating major adult and pediatric disease subtypes. We recently reported that Atrx deficiency drives glioma-relevant phenotypes, such as increased motility and astrocytic differentiation profiles, by directly modulating epigenomic landscapes and the corresponding transcriptional profiles in glioma cells of origin. In particular, Atrx deficiency was associated with disruptions in H3.3 histone content at key genetic loci. To further understand the

APA, Harvard, Vancouver, ISO, and other styles

7

Shen, Chen, David Picketts, and Oren Becher. "DIPG-68. ALPHA-THALASSEMIA X-LINKED MENTAL RETARDATION PROTEIN (ATRX) LOSS-OF-FUNCTION IN A MOUSE MODEL OF DIFFUSE INTRINSIC PONTINE GLIOMA." Neuro-Oncology 22, Supplement_3 (2020): iii300. http://dx.doi.org/10.1093/neuonc/noaa222.111.

Full text

Abstract:

Abstract Diffuse Intrinsic Potine Glioma (DIPG) is a rare pediatric brain tumor for which no cure or efficacious therapies exist. Previous discoveries have revealed that, DIPG harbors distinct genetic alterations, when compared with adult high-grade glioma (HGG) or even with non-DIPG pediatric HGGs. ATRX alteration is found in 9% of clinical cases of DIPG, and significantly overlaps with H3.3K27M mutation and p53 loss, the two most common genetic changes in DIPG, found in 80% and 77% clinical cases, respectively. Here we developed genetically engineered mouse model of brainstem glioma using th

APA, Harvard, Vancouver, ISO, and other styles

8

Becker, Aline P., Erica Hlavin Bell, Jessica Fleming, et al. "Comprehensive assessment of ATRX mutation, protein expression, and alternative lengthening of telomeres (ALT) phenotype in grade II and III gliomas." Journal of Clinical Oncology 35, no. 15_suppl (2017): 2064. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.2064.

Full text

Abstract:

2064 Background: ATRX mutations are key molecular markers for classification of gliomas. We aimed to evaluate ATRXmutations and protein expression and the ALT phenotype as potential biomarkers for grade II and III gliomas. Methods: Retrospective analysis of 156 adult gliomas, with long-term follow up. Gene sequencing ( IDH1/2 and ATRX), Oncoscan array (1p19q co-deletion), FISH assays (1p19q co-deletion and ALT phenotype) and immunohistochemistry (IDH1 R132H and ATRX) were performed and the results were correlated with OS and PFS. Results: Twenty-six out of 94 samples (27.7%) had ATRX mutations

APA, Harvard, Vancouver, ISO, and other styles

9

Ritchie, Kieran, Claudia Seah, Jana Moulin, Christian Isaac, Frederick Dick, and Nathalie G. Bérubé. "Loss of ATRX leads to chromosome cohesion and congression defects." Journal of Cell Biology 180, no. 2 (2008): 315–24. http://dx.doi.org/10.1083/jcb.200706083.

Full text

Abstract:

αThalassemia/mental retardation X linked (ATRX) is a switch/sucrose nonfermenting-type ATPase localized at pericentromeric heterochromatin in mouse and human cells. Human ATRX mutations give rise to mental retardation syndromes characterized by developmental delay, facial dysmorphisms, cognitive deficits, and microcephaly and the loss of ATRX in the mouse brain leads to reduced cortical size. We find that ATRX is required for normal mitotic progression in human cultured cells and in neuroprogenitors. Using live cell imaging, we show that the transition from prometaphase to metaphase is prolong

APA, Harvard, Vancouver, ISO, and other styles

10

Yuan, Ming, Karlyne Reilly, Christine Pratilas, Christopher Heaphy, and Fausto Rodriguez. "NFB-01. FUNCTIONAL CHARACTERIZATION OF ATRX LOSS IN NF1-ASSOCIATED GLIOMA AND MPNST." Neuro-Oncology 22, Supplement_3 (2020): iii417—iii418. http://dx.doi.org/10.1093/neuonc/noaa222.605.

Full text

Abstract:

Abstract To identify the biologic relevance of ATRX loss in NF1-associated gliomagenesis, we studied the effects of Atrx loss using four previously characterized Nf1+/-Trp53+/- murine glioma lines. Lines 130G#3 and 158D#8 (corresponding to grade IV and III gliomas, respectively) displayed preserved ATRX protein expression compared to NIH-3T3 cells. We studied the effects of Atrx knockdown in these two lines in the presence and absence of the TERT inhibitor, BIRBR1532. Using a telomere-specific FISH assay, we identified increased signal intensity after Atrx knockdown, only in the presence of th

APA, Harvard, Vancouver, ISO, and other styles

11

Malgulwar, Prit Benny, Carla Danussi, Anand Singh, Kasthuri Kannan, Kunal Rai, and Jason Huse. "EPCO-08. ATRX DEFICIENCY INDUCES DYSFUNCTIONAL HETEROCHROMATIN ARCHITECTURE IN GLIOMAS AND ESTABLISHES DISEASE-DEFINING TRANSCRIPTIONAL NETWORKS." Neuro-Oncology 23, Supplement_6 (2021): vi2—vi3. http://dx.doi.org/10.1093/neuonc/noab196.007.

Full text

Abstract:

Abstract Loss of ATRX (Alpha Thalassemia/Mental Retardation Syndrome X, a member of SWI/SNF family chromatin regulator is altered in diffuse gliomas and defines molecular subtypes with aggressive behavior. Mechanistically, ATRX regulates incorporation of histone H3.3 into chromatin sites across the genome, maintains alternative lengthening of telomeres and establishes genomic distribution of polycomb responsive genes. We have recently reported Atrx deficiency induces glioma oncogenic features via widespread alterations in chromatin accessibility using mouse Neural Progenitor Cells (mNPCs- Tp53

APA, Harvard, Vancouver, ISO, and other styles

12

Bowie, Michelle, Seethalakshmi Hariharan, Janell Hostettler, et al. "IMMU-34. ATRX MUTATIONS PREDICT RESPONSE TO INNATE BASED THERAPY IN GLIOMA." Neuro-Oncology 21, Supplement_6 (2019): vi126. http://dx.doi.org/10.1093/neuonc/noz175.526.

Full text

Abstract:

Abstract BACKGROUND Innate based immunotherapies are becoming increasingly important for treating brain tumor patients. Gliomas carry recurrent mutations in regulatory genes that control innate immune signaling responses. About 71% of adult WHO grade II and III gliomas and 57% of secondary glioblastomas also carry a loss-of-function mutation in the ATRX gene. ATRX is a SWI-SNF chromatin remodeling protein that has major roles in processes such as cell cycle regulation and maintenance of genomic stability. Recent studies have implicated ATRX in dysfunctional innate immune signaling in cancer ce

APA, Harvard, Vancouver, ISO, and other styles

13

Mullan, Brendan, Tingting Qin, Ruby Siada, et al. "CBIO-03. ATRX LOSS IN GLIOMA RESULTS IN EPIGENETIC DYSREGULATION OF CELL CYCLE PHASE TRANSITION." Neuro-Oncology 22, Supplement_2 (2020): ii16. http://dx.doi.org/10.1093/neuonc/noaa215.063.

Full text

Abstract:

Abstract Gliomas are a leading cause of cancer mortality in children and adults, and new targeted therapies are desperately needed. ATRX is a chromatin remodeling protein that is recurrently mutated in H3F3A-mutant pediatric glioblastoma (GBM) and IDH-mutant grade 2/3 adult glioma. We previously showed that loss of ATRX in glioma results in tumor growth and additional tumor mutations. However, the mechanism driving these phenotypes has not been fully established. We found that in ChIP-Seq/ChIP-qPCR of mouse neuronal precursor cells (NPCs) and GBM cells with isogenic ATRX loss, ATRX binds regul

APA, Harvard, Vancouver, ISO, and other styles

14

Dharmaiah, Sharvari, Vasudev Tadimeti, Prit Benny Malgulwar, Christian Alvarez, Ahsan Farooqi, and Jason Huse. "CBIO-04. G-QUADRUPLEX STABILIZATION ENHANCES REPLICATION STRESS AND DNA DAMAGE IN ATRX-DEFICIENT HIGH-GRADE GLIOMA." Neuro-Oncology 23, Supplement_6 (2021): vi27—vi28. http://dx.doi.org/10.1093/neuonc/noab196.105.

Full text

Abstract:

Abstract Loss of function mutations in α-thalassaemia/mental retardation X-linked (ATRX) are a critical molecular hallmark for invariably fatal high-grade glioma (HGG). Mutational inactivation of histone chaperone ATRX leads to accumulations of abnormal DNA secondary structures known as G-quadruplexes (G4s), thereby inducing replication stress and DNA damage. As G4s arise at GC-rich regions (i.e., pericentromeric and telomeric regions), ATRX-deficiency alters genome-wide accessibility of chromatin, leads to transcriptional dysregulation, and induces alternative lengthening of telomeres (ALT).

APA, Harvard, Vancouver, ISO, and other styles

15

Stilp, Anne-Charlotte, Myriam Scherer, Patrick König, Axel Fürstberger, Hans A. Kestler, and Thomas Stamminger. "The chromatin remodeling protein ATRX positively regulates IRF3-dependent type I interferon production and interferon-induced gene expression." PLOS Pathogens 18, no. 8 (2022): e1010748. http://dx.doi.org/10.1371/journal.ppat.1010748.

Full text

Abstract:

The chromatin remodeling protein alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a component of promyelocytic leukemia nuclear bodies (PML-NBs) and thereby mediates intrinsic immunity against several viruses including human cytomegalovirus (HCMV). As a consequence, viruses have evolved different mechanisms to antagonize ATRX, such as displacement from PML-NBs or degradation. Here, we show that depletion of ATRX results in an overall impaired antiviral state by decreasing transcription and subsequent secretion of type I IFNs, which is followed by reduced expression of interfero

APA, Harvard, Vancouver, ISO, and other styles

16

Whitfield, Benjamin, Jason Huse, David Irvin, Sharvari Dharmaiah, Prit Benny Malgulwar, and Hannah Roberts. "IMMU-10. EXPLORING THE IMMUNOLOGIC CONSEQUENCES OF ATRX DEFICIENCY IN GLIOMA." Neuro-Oncology 24, Supplement_7 (2022): vii133. http://dx.doi.org/10.1093/neuonc/noac209.508.

Full text

Abstract:

Abstract ATRX is a key chromatin regulator, which is mutated in large subsets of both adult and pediatric gliomas. Despite being a common mutation, little is known about the biological ramifications of ATRX deficiency. Recently, it has been demonstrated that ATRX deficiency drives increased replication stress, DNA damage, and global epigenetic dysregulation. Despite these advances, little is known about the impact of ATRX deficiency on the tumor microenvironment (TME). In order to explore the impact of ATRX deficiency on the TME we utilized the RCAS/nTVa system to generate a novel murine model

APA, Harvard, Vancouver, ISO, and other styles

17

Scott, William A., Erum Z. Dhanji, Boris J. A. Dyakov, et al. "ATRX proximal protein associations boast roles beyond histone deposition." PLOS Genetics 17, no. 11 (2021): e1009909. http://dx.doi.org/10.1371/journal.pgen.1009909.

Full text

Abstract:

The ATRX ATP-dependent chromatin remodelling/helicase protein associates with the DAXX histone chaperone to deposit histone H3.3 over repetitive DNA regions. Because ATRX-protein interactions impart functions, such as histone deposition, we used proximity-dependent biotinylation (BioID) to identify proximal associations for ATRX. The proteomic screen captured known interactors, such as DAXX, NBS1, and PML, but also identified a range of new associating proteins. To gauge the scope of their roles, we examined three novel ATRX-associating proteins that likely differed in function, and for which

APA, Harvard, Vancouver, ISO, and other styles

18

Dharmaiah, Sharvari, Ahsan Farooqi, Christian Alvarez, Vladislav Sharin, David Irvin, and Jason Huse. "CBIO-18. G-QUADRUPLEX STABILIZATION TARGETS ATRX-DEFICIENT HIGH-GRADE GLIOMA VIA INDUCTION OF p53-INDEPENDENT APOPTOSIS." Neuro-Oncology 22, Supplement_2 (2020): ii19. http://dx.doi.org/10.1093/neuonc/noaa215.078.

Full text

Abstract:

Abstract Gliomas are the most common primary malignant brain tumor in adults and mutational inactivation of histone chaperone ATRX is a critical molecular marker in the classification of high-grade glioma (HGG). ATRX loss occurs with concurrent mutations in TP53 and IDH1/2, altering genome-wide accessibility of chromatin and inducing replication stress and DNA damage via accumulations of abnormal G-quadruplex (G4) DNA secondary structures. While G4 stabilizers in particular hold strong therapeutic promise, the genomic consequences and efficacy of this treatment are poorly understood. We previo

APA, Harvard, Vancouver, ISO, and other styles

19

Pask, Andrew, Daniel Park, Kim Huynh, et al. "102. Cloning and characterisation of tammar ATRX and ATRY." Reproduction, Fertility and Development 15, no. 9 (2003): 102. http://dx.doi.org/10.1071/srb03ab102.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Tang, Jun, Shaobo Wu, Hongtu Liu, et al. "A Novel Transcription Regulatory Complex Containing Death Domain-associated Protein and the ATR-X Syndrome Protein." Journal of Biological Chemistry 279, no. 19 (2004): 20369–77. http://dx.doi.org/10.1074/jbc.m401321200.

Full text

Abstract:

Death domain-associated protein (Daxx) is a multi-functional protein that modulates both apoptosis and transcription. Within the nucleus, Daxx is a component of the promyelocytic leukemia protein (PML) nuclear bodies (NBs) and interacts with a number of transcription factors, yet its precise role in transcription remains elusive. To further define the function of Daxx, we have isolated its interacting proteins in the nucleus using epitope-tagged affinity purification and identified X-linked mental retardation and α-thalassaemia syndrome protein (ATRX), a putative member of the SNF2 family of A

APA, Harvard, Vancouver, ISO, and other styles

21

Sureshkumar, Aswin, Phyo Win, and Christopher Pin. "Abstract C075: The loss of ATRX induces a sex-specific progression of pancreatic ductal adenocarcinoma in the presence of oncogenic KRASG12D." Cancer Research 82, no. 22_Supplement (2022): C075. http://dx.doi.org/10.1158/1538-7445.panca22-c075.

Full text

Abstract:

Abstract Introduction: Pancreatic ductal adenocarcinoma (PDAC) is currently the third leading cause of cancer-related deaths primarily due to a lack of effective early screening and the tumor microenvironment increasing resistance to chemotherapy. Somatic mutation in oncogenic KRASG12D appears in 97% of PDAC patients, however, the addition of environmental and epigenetic stressors are required to promote PDAC initiation and progression from acinar cells. We are elucidating the mechanism by which a loss of α-thalassemia, mental-retardation, X-linked (ATRX), a SWI/SNF chromatin remodeling protei

APA, Harvard, Vancouver, ISO, and other styles

22

Mullan, Brendan, Tingting Qin, Ruby Siada, et al. "GENE-17. ATRX LOSS IN GLIOMA RESULTS IN EPIGENETIC DYSREGULATION OF THE G2/M CHECKPOINT AND SENSITIVITY TO ATM INHIBITION." Neuro-Oncology 21, Supplement_6 (2019): vi101. http://dx.doi.org/10.1093/neuonc/noz175.419.

Full text

Abstract:

Abstract Gliomas are a leading cause of cancer mortality in children and adults and new targeted therapies are desperately needed. ATRX is a chromatin remodeling protein that is recurrently mutated in H3F3A-mutant pediatric GBM and IDH-mutant grade 2/3 adult glioma. We previously showed that loss of ATRX in glioma results in tumor growth and additional tumor mutations. However, the mechanism driving these phenotypes has not been fully established. We found that in ChIP-Seq datasets of mouse neuronal precursor cells (NPCs) and experimental models of human glioma cells, ATRX binds and regulates

APA, Harvard, Vancouver, ISO, and other styles

23

Jurak, Igor, Leah B. Silverstein, Mayuri Sharma, and Donald M. Coen. "Herpes Simplex Virus Is Equipped with RNA- and Protein-Based Mechanisms To Repress Expression of ATRX, an Effector of Intrinsic Immunity." Journal of Virology 86, no. 18 (2012): 10093–102. http://dx.doi.org/10.1128/jvi.00930-12.

Full text

Abstract:

Intrinsic immunity is a first-line intracellular defense against virus infection, and viruses have evolved mechanisms to counteract it. During herpes simplex virus (HSV) infection, nuclear domain 10 (ND10) components localize adjacent to incoming viral genomes and generate a repressive environment for viral gene expression. Here, we found that the ND10 component, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) protein, is predicted to be a target of HSV-1 miR-H1 and HSV-2 miR-H6. These microRNAs (miRNAs) share a seed sequence and are abundant during lytic infection. Mimics of bot

APA, Harvard, Vancouver, ISO, and other styles

24

Lukashchuk, Vera, Steven McFarlane, Roger D. Everett, and Chris M. Preston. "Human Cytomegalovirus Protein pp71 Displaces the Chromatin-Associated Factor ATRX from Nuclear Domain 10 at Early Stages of Infection." Journal of Virology 82, no. 24 (2008): 12543–54. http://dx.doi.org/10.1128/jvi.01215-08.

Full text

Abstract:

ABSTRACT The human cytomegalovirus (HCMV) tegument protein pp71, encoded by gene UL82, stimulates viral immediate-early (IE) transcription. pp71 interacts with the cellular protein hDaxx at nuclear domain 10 (ND10) sites, resulting in the reversal of hDaxx-mediated repression of viral transcription. We demonstrate that pp71 displaces an hDaxx-binding protein, ATRX, from ND10 prior to any detectable effects on hDaxx itself and that this event contributes to the role of pp71 in alleviating repression. Introduction of pp71 into cells by transfection, infection with a pp71-expressing herpes simple

APA, Harvard, Vancouver, ISO, and other styles

25

Marano, Domenico, Salvatore Fioriniello, Francesca Fiorillo, Richard J. Gibbons, Maurizio D’Esposito, and Floriana Della Ragione. "ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation." International Journal of Molecular Sciences 20, no. 21 (2019): 5371. http://dx.doi.org/10.3390/ijms20215371.

Full text

Abstract:

Methyl-CpG binding protein 2 (MeCP2) is a multi-function factor involved in locus-specific transcriptional modulation and the regulation of genome architecture, e.g., pericentric heterochromatin (PCH) organization. MECP2 mutations are responsible for Rett syndrome (RTT), a devastating postnatal neurodevelopmental disorder, the pathogenetic mechanisms of which are still unknown. MeCP2, together with Alpha-thalassemia/mental retardation syndrome X-linked protein (ATRX), accumulates at chromocenters, which are repressive PCH domains. As with MECP2, mutations in ATRX cause ATR-X syndrome which is

APA, Harvard, Vancouver, ISO, and other styles

26

Udugama, Maheshi, Elaine Sanij, Hsiao P. J. Voon, et al. "Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers." Proceedings of the National Academy of Sciences 115, no. 18 (2018): 4737–42. http://dx.doi.org/10.1073/pnas.1720391115.

Full text

Abstract:

ATRX (alpha thalassemia/mental retardation X-linked) complexes with DAXX to deposit histone variant H3.3 into repetitive heterochromatin. Recent genome sequencing studies in cancers have revealed mutations in ATRX and their association with ALT (alternative lengthening of telomeres) activation. Here we report depletion of ATRX in mouse ES cells leads to selective loss in ribosomal RNA gene (rDNA) copy number. Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower rDNA copy than ALT-negative tumors. Further investigation shows that the rDNA copy loss and repeat

APA, Harvard, Vancouver, ISO, and other styles

27

Bérubé, Nathalie G. "ATRX in chromatin assembly and genome architecture during development and disease." Biochemistry and Cell Biology 89, no. 5 (2011): 435–44. http://dx.doi.org/10.1139/o11-038.

Full text

Abstract:

The regulation of genome architecture is essential for a variety of fundamental cellular phenomena that underlie the complex orchestration of mammalian development. The ATP-dependent chromatin remodeling protein ATRX is emerging as a key regulatory component of nucleosomal dynamics and higher order chromatin conformation. Here we provide an overview of the role of ATRX at chromatin and during development, and discuss recent studies exposing a repertoire of ATRX functions at heterochromatin, in gene regulation, and during mitosis and meiosis. Exciting new progress on several fronts suggest that

APA, Harvard, Vancouver, ISO, and other styles

28

Raghunandan, Maya, Jung Eun Yeo, Ryan Walter, et al. "Functional cross talk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery." Human Molecular Genetics 29, no. 7 (2019): 1083–95. http://dx.doi.org/10.1093/hmg/ddz250.

Full text

Abstract:

Abstract Fanconi anemia (FA) is a chromosome instability syndrome characterized by increased cancer predisposition. Specifically, the FA pathway functions to protect genome stability during DNA replication. The central FA pathway protein, FANCD2, locates to stalled replication forks and recruits homologous recombination (HR) factors such as CtBP interacting protein (CtIP) to promote replication fork restart while suppressing new origin firing. Here, we identify alpha-thalassemia retardation syndrome X-linked (ATRX) as a novel physical and functional interaction partner of FANCD2. ATRX is a chr

APA, Harvard, Vancouver, ISO, and other styles

29

Hariharan, Seethalakshmi, Michelle Bowie, Janell Hostettler, et al. "IMMU-18. INTERPLAY BETWEEN IDH1 AND ATRX MUTATIONS GOVERN INNATE IMMUNE RESPONSES IN GLIOMAS." Neuro-Oncology 22, Supplement_2 (2020): ii108. http://dx.doi.org/10.1093/neuonc/noaa215.448.

Full text

Abstract:

Abstract Innate-based immunotherapies are becoming increasingly important for treating brain tumor patients. About 50% of WHO grade II and III gliomas carry mutations in IDH1 and ATRX genes. Mutant IDH1 results in the production of 2-hydroxyglutarate, an oncometabolite that promotes global metabolic and epigenetic alterations. ATRX is a SWI-SNF chromatin remodeling protein that is involved in cell cycle regulation and maintenance of genomic stability. Both IDH1 and ATRX mutations have been implicated in dysfunctional immune signaling in cancer cells. However, the interplay between these mutati

APA, Harvard, Vancouver, ISO, and other styles

30

Dharmaiah, Sharvari, Brandon Chen, Prit Benny Malgulwar, Vasudev Tadimeti, Ahsan Farooqi, and Jason Huse. "DNAR-11. CHARACTERIZING THE GENOMIC CONSEQUENCES OF G-QUADRUPLEX STABILIZATION IN ATRX-DEFICIENT HIGH-GRADE GLIOMA." Neuro-Oncology 24, Supplement_7 (2022): vii92—vii93. http://dx.doi.org/10.1093/neuonc/noac209.343.

Full text

Abstract:

Abstract α-thalassaemia/mental retardation X-linked (ATRX) mutations are a critical molecular marker for high-grade glioma (HGG). These mutations lead to accumulations of abnormal DNA secondary G-quadruplex (G4) structures, thereby inducing replication stress and DNA damage. As G4s arise at GC-rich regions (i.e., pericentromeric and telomeric regions), ATRX-deficiency alters genome-wide accessibility of chromatin and causes transcriptional dysregulation. However, the genomic consequences of this in the context of ATRX-deficiency are poorly understood. Our goal is to target ATRX deficiency thro

APA, Harvard, Vancouver, ISO, and other styles

31

Pladevall-Morera, David, María Castejón-Griñán, Paula Aguilera, et al. "ATRX-Deficient High-Grade Glioma Cells Exhibit Increased Sensitivity to RTK and PDGFR Inhibitors." Cancers 14, no. 7 (2022): 1790. http://dx.doi.org/10.3390/cancers14071790.

Full text

Abstract:

High-grade glioma, including anaplastic astrocytoma and glioblastoma (GBM) patients, have a poor prognosis due to the lack of effective treatments. Therefore, the development of new therapeutic strategies to treat these gliomas is urgently required. Given that high-grade gliomas frequently harbor mutations in the SNF2 family chromatin remodeler ATRX, we performed a screen to identify FDA-approved drugs that are toxic to ATRX-deficient cells. Our findings reveal that multi-targeted receptor tyrosine kinase (RTK) and platelet-derived growth factor receptor (PDGFR) inhibitors cause higher cellula

APA, Harvard, Vancouver, ISO, and other styles

32

Noh, Kyung-Min, Ian Maze, Dan Zhao, et al. "ATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neurons." Proceedings of the National Academy of Sciences 112, no. 22 (2014): 6820–27. http://dx.doi.org/10.1073/pnas.1411258112.

Full text

Abstract:

ATRX (the alpha thalassemia/mental retardation syndrome X-linked protein) is a member of the switch2/sucrose nonfermentable2 (SWI2/SNF2) family of chromatin-remodeling proteins and primarily functions at heterochromatic loci via its recognition of “repressive” histone modifications [e.g., histone H3 lysine 9 tri-methylation (H3K9me3)]. Despite significant roles for ATRX during normal neural development, as well as its relationship to human disease, ATRX function in the central nervous system is not well understood. Here, we describe ATRX’s ability to recognize an activity-dependent combinatori

APA, Harvard, Vancouver, ISO, and other styles

33

Brondani, Vania Balderrama, Amanda Meneses Ferreira Lacombe, Beatriz Marinho de Paula Mariani, et al. "Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma." International Journal of Molecular Sciences 22, no. 3 (2021): 1238. http://dx.doi.org/10.3390/ijms22031238.

Full text

Abstract:

Adrenocortical carcinoma (ACC) is a rare malignancy that is associated with a dismal prognosis. Pan-genomic studies have demonstrated the involvement of ATRX and ZNRF3 genes in adrenocortical tumorigenesis. Our aims were to evaluate the protein expression of ATRX and ZNRF3 in a cohort of 82 adults with ACC and to establish their prognostic value. Two pathologists analyzed immuno-stained slides of a tissue microarray. The low protein expression of ATRX and ZNRF3 was associated with a decrease in overall survival (OS) (p = 0.045, p = 0.012, respectively). The Cox regression for ATRX protein expr

APA, Harvard, Vancouver, ISO, and other styles

34

Cai, Hong-Qing, Peng-Fei Wang, Hai-Peng Zhang, et al. "Phosphorylated Hsp27 is mutually exclusive with ATRX loss and the IDH1R132H mutation and may predict better prognosis among glioblastomas without the IDH1 mutation and ATRX loss." Journal of Clinical Pathology 71, no. 8 (2018): 702–7. http://dx.doi.org/10.1136/jclinpath-2018-205000.

Full text

Abstract:

AimTo identify biomarkers for accurate classification of glioma.Patients and methodsWe evaluated the heat shock protein 27 (Hsp27), phosphorylated Hsp27 (p-Hsp27), ATRX and IDH1R132Hproteins using immunohistochemistry in 421 glioma tissues. The χ2 test was used to assess the relationship between molecular alterations and clinico-pathological parameters. Kaplan-Meier survival curves were constructed, and differences were detected by the log-rank test.ResultsWe found that Hsp27 and p-Hsp27 were mainly expressed in aggressive astrocytic gliomas. However, neither Hsp27 nor p-Hsp27 expression was r

APA, Harvard, Vancouver, ISO, and other styles

35

Gaspar, Tiago Bordeira, Sofia Macedo, Ana Sá, et al. "Characterisation of an Atrx Conditional Knockout Mouse Model: Atrx Loss Causes Endocrine Dysfunction Rather Than Pancreatic Neuroendocrine Tumour." Cancers 14, no. 16 (2022): 3865. http://dx.doi.org/10.3390/cancers14163865.

Full text

Abstract:

ATRX is a chromatin remodeller that maintains telomere homeostasis. Loss of ATRX is described in approximately 10% of pancreatic neuroendocrine tumours (PanNETs) and associated with poorer prognostic features. Here, we present a genetically engineered mouse model (GEMM) addressing the role of Atrx loss (AtrxKO) in pancreatic β cells, evaluating a large cohort of ageing mice (for up to 24 months (mo.)). Atrx loss did not cause PanNET formation but rather resulted in worsening of ageing-related pancreatic inflammation and endocrine dysfunction in the first year of life. Histopathological evaluat

APA, Harvard, Vancouver, ISO, and other styles

36

Steensma, David P., Douglas R. Higgs, Chris A. Fisher та Richard J. Gibbons. "Acquired somatic ATRX mutations in myelodysplastic syndrome associated with α thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations". Blood 103, № 6 (2004): 2019–26. http://dx.doi.org/10.1182/blood-2003-09-3360.

Full text

Abstract:

Abstract Acquired somatic mutations in ATRX, an X-linked gene encoding a chromatin-associated protein, were recently identified in 4 patients with the rare subtype of myelodysplastic syndrome (MDS) associated with α thalassemia (ATMDS). Here we describe a series of novel point mutations in ATRX detected in archival DNA samples from marrow and/or blood of patients with ATMDS by use of denaturing high-performance liquid chromatography (DHPLC), a technique sensitive to low-level mosaicism. Two of the new mutations result in changes in amino acids altered in previously described pedigrees with ger

APA, Harvard, Vancouver, ISO, and other styles

37

De La Fuente, Rabindranath, Claudia Baumann, and Maria M. Viveiros. "Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease." REPRODUCTION 142, no. 2 (2011): 221–34. http://dx.doi.org/10.1530/rep-10-0380.

Full text

Abstract:

Functional differentiation of chromatin structure is essential for the control of gene expression, nuclear architecture, and chromosome stability. Compelling evidence indicates that alterations in chromatin remodeling proteins play an important role in the pathogenesis of human disease. Among these, α-thalassemia mental retardation X-linked protein (ATRX) has recently emerged as a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres as well as facultative heterochromatin on the murine inactive X chromosome. Mutations in human ATRX result in an X-linked n

APA, Harvard, Vancouver, ISO, and other styles

38

Yuan, Ming, Charles G. Eberhart, Christine A. Pratilas, et al. "Therapeutic Vulnerability to ATR Inhibition in Concurrent NF1 and ATRX-Deficient/ALT-Positive High-Grade Solid Tumors." Cancers 14, no. 12 (2022): 3015. http://dx.doi.org/10.3390/cancers14123015.

Full text

Abstract:

Subsets of Neurofibromatosis Type 1 (NF1)-associated solid tumors have been shown to display high frequencies of ATRX mutations and the presence of alternative lengthening of telomeres (ALT). We studied the phenotype of combined NF1 and ATRX deficiency in malignant solid tumors. Cell lines derived from NF1-deficient sporadic glioblastomas (U251, SF188), an NF1-associated ATRX mutant glioblastoma cell line (JHH-NF1-GBM1), an NF1-derived sarcoma cell line (JHH-CRC65), and two NF1-deficient MPNST cell lines (ST88-14, NF90.8) were utilized. Cancer cells were treated with ATR inhibitors, with or wi

APA, Harvard, Vancouver, ISO, and other styles

39

Marinoni, I., A. Wiederkeher, T. Wiedmer, et al. "Hypo-methylation mediates chromosomal instability in pancreatic NET." Endocrine-Related Cancer 24, no. 3 (2017): 137–46. http://dx.doi.org/10.1530/erc-16-0554.

Full text

Abstract:

DAXX and or ATRX loss occur in 40% of pancreatic neuroendocrine tumors (PanNETs). PanNETs negative for DAXX or ATRX show an increased risk of relapse. The tumor-associated pathways activated upon DAXX or ATRX loss and how this event may induce chromosomal instability (CIN) and alternative lengthening telomeres (ALT) are still unknown. Both DAXX and ATRX are involved in DNA methylation regulation. DNA methylation of heterochromatin and of non-coding sequences is extremely important for the maintenance of genomic stability. We analyzed the association of DAXX and/or ATRX loss and CIN with global

APA, Harvard, Vancouver, ISO, and other styles

40

O’Shea, Lynne C., Edward Daly, Carmel Hensey, and Trudee Fair. "ATRX is a novel progesterone-regulated protein and biomarker of low developmental potential in mammalian oocytes." Reproduction 153, no. 5 (2017): 671–82. http://dx.doi.org/10.1530/rep-16-0443.

Full text

Abstract:

A multi-species meta-analysis of published transcriptomic data from models of oocyte competence identified the chromatin remodelling factor ATRX as a putative biomarker of oocyte competence. The objective of the current study was to test the hypothesis that ATRX protein expression by cumulus–oocyte complexes (COCs) reflects their intrinsic quality and developmental potential. In excess of 10,000 bovine COCs were utilised to test our hypothesis. COCs were in vitro matured (IVM) under conditions associated with reduced developmental potential: IVM in the presence or absence of (1) progesterone s

APA, Harvard, Vancouver, ISO, and other styles

41

Núñez, Felipe J., Flor M. Mendez, Padma Kadiyala, et al. "IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response." Science Translational Medicine 11, no. 479 (2019): eaaq1427. http://dx.doi.org/10.1126/scitranslmed.aaq1427.

Full text

Abstract:

Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1R132H) are younger at diagnosis and live longer. IDH1 mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 (TP53) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene (ATRX). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1R132H mutation. The current molecular classification of LGGs is based, partly, on the distribution of these mutations. We developed a g

APA, Harvard, Vancouver, ISO, and other styles

42

Elbakry, Amira, Szilvia Juhász, Ki Choi Chan, and Markus Löbrich. "ATRX and RECQ5 define distinct homologous recombination subpathways." Proceedings of the National Academy of Sciences 118, no. 3 (2021): e2010370118. http://dx.doi.org/10.1073/pnas.2010370118.

Full text

Abstract:

Homologous recombination (HR) is an important DNA double-strand break (DSB) repair pathway that copies sequence information lost at the break site from an undamaged homologous template. This involves the formation of a recombination structure that is processed to restore the original sequence but also harbors the potential for crossover (CO) formation between the participating molecules. Synthesis-dependent strand annealing (SDSA) is an HR subpathway that prevents CO formation and is thought to predominate in mammalian cells. The chromatin remodeler ATRX promotes an alternative HR subpathway t

APA, Harvard, Vancouver, ISO, and other styles

43

Abdallah, Aalaa, Herminio J. Cardona, David J. Picketts, Daniel J. Brat, Xiao-Nan Li, and Oren J. Becher. "Abstract 912: A novel genetically engineered H3.3G34R model reveals cooperation with ATRX loss in upregulation of PRC2 target genes." Cancer Research 82, no. 12_Supplement (2022): 912. http://dx.doi.org/10.1158/1538-7445.am2022-912.

Full text

Abstract:

Abstract Pediatric High Grade Glioma (pHGG) is a collection of molecularly distinct subtypes with different prognoses depending on the genetic drivers. One particularly aggressive subtype is H3.3G34R mutant gliomas, which are currently incurable and in need of improved therapies. Interestingly, H3.3G34R mutant gliomas commonly harbor TP53mutations, ATRX mutations, and alterations in PDGFRA signaling. The mechanism by which H3.3G34R promotes gliomagenesis is still somewhat unclear and additional models are needed to dissect its role in tumorigenesis. We used the RCAS Tv-a system to model H3.3G3

APA, Harvard, Vancouver, ISO, and other styles

44

Abdallah, Aalaa, Herminio Cardona, Samantha Gadd, et al. "HGG-01. A novel genetically engineered H3.3G34R model reveals cooperation with ATRX loss in upregulation of PRC2 target genes and promotion of the NOTCH pathway." Neuro-Oncology 24, Supplement_1 (2022): i59. http://dx.doi.org/10.1093/neuonc/noac079.217.

Full text

Abstract:

Abstract BACKGROUND: Pediatric high-grade gliomas (pHGGs) are an aggressive CNS tumor which are often characterized by mutations in H3F3A, the gene that encodes Histone H3.3 (H3.3). A substitution of the Glycine at position 34 of H3.3 with either Arginine or Valine (H3.3G34R/V), was recently described in a large cohort of pHGG samples and has been characterized as occurring in anywhere between 5-20% of pHGGs. Attempts to study the mechanisms of H3.3G34R have proven difficult due to the developmental nature of the disease and the requirement of co-occurring mutations for model development. METH

APA, Harvard, Vancouver, ISO, and other styles

45

Malgulwar, Prit Benny, Carla Danussi, Anand Singh, Ajay Kumar Saw, Kunal Rai, and Jason Huse. "EPCO-23. DYSFUNCTION OF LARGE H3K9ME3 DOMAINS IN ATRX DEFICIENT GLIOMAS INDUCES GENETIC REARRANGEMENTS AND LATENT DEVELOPMENTAL SIGNALING NETWORKS THROUGH SUPER-ENHANCER LANDSCAPES." Neuro-Oncology 24, Supplement_7 (2022): vii121. http://dx.doi.org/10.1093/neuonc/noac209.458.

Full text

Abstract:

Abstract Somatic alterations in ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-linked), a member of SWI/SNF family chromatin regulator has been found to be frequently mutated in diffuse gliomas and defines molecular subtypes with aggressive behavior. Mechanistically, ATRX regulates incorporation of histone H3.3 into chromatin sites across the genome, maintains alternative lengthening of telomeres and establishes genomic distribution of polycomb responsive genes. To understand in depth role of ATRX in gliomas, we performed ChIP-seq and/or Cut-and-tag for histone marks that define active

APA, Harvard, Vancouver, ISO, and other styles

46

Valenzuela, Martina, Roberta Amato, Antonella Sgura, Antonio Antoccia, and Francesco Berardinelli. "The Multiple Facets of ATRX Protein." Cancers 13, no. 9 (2021): 2211. http://dx.doi.org/10.3390/cancers13092211.

Full text

Abstract:

ATRX gene codifies for a protein member of the SWI-SNF family and was cloned for the first time over 25 years ago as the gene responsible for a rare developmental disorder characterized by α-thalassemia and intellectual disability called Alpha Thalassemia/mental Retardation syndrome X-linked (ATRX) syndrome. Since its discovery as a helicase involved in alpha-globin gene transcriptional regulation, our understanding of the multiple roles played by the ATRX protein increased continuously, leading to the recognition of this multifaceted protein as a central “caretaker” of the human genome involv

APA, Harvard, Vancouver, ISO, and other styles

47

Brondani, Vânia Balderrama, Amanda Meneses Ferreira Lacombe, Beatriz Marinho Mariani, et al. "Low Protein Expression of ATRX and ZNRF3 as a Novel Prognostic Marker of Adult Adrenocortical Carcinoma." Journal of the Endocrine Society 5, Supplement_1 (2021): A87—A88. http://dx.doi.org/10.1210/jendso/bvab048.175.

Full text

Abstract:

Abstract Adrenocortical carcinoma (ACC) is a rare malignant neoplasia that is usually associated with a dismal prognosis. ACC overall survival (OS) depends on the particular biology of the tumor. Pan-genomic studies have demonstrated the involvement of ATRX and ZNRF3 genes in adrenocortical tumorigenesis. Aim: To evaluate ATRX and ZNRF3 protein expression in a large cohort of adults with ACC followed at a single tertiary referral center to establish the prognostic value of these genes. Methods: Two pathologists analyzed immunohistochemically-stained slides for ATRX and ZNRF3 (blinded assessmen

APA, Harvard, Vancouver, ISO, and other styles

48

Cabral, Joseph M., Camille H. Cushman, Catherine N. Sodroski, and David M. Knipe. "ATRX limits the accessibility of histone H3-occupied HSV genomes during lytic infection." PLOS Pathogens 17, no. 4 (2021): e1009567. http://dx.doi.org/10.1371/journal.ppat.1009567.

Full text

Abstract:

Histones are rapidly loaded on the HSV genome upon entry into the nucleus of human fibroblasts, but the effects of histone loading on viral replication have not been fully defined. We showed recently that ATRX is dispensable for de novo deposition of H3 to HSV genomes after nuclear entry but restricted infection through maintenance of viral heterochromatin. To further investigate the roles that ATRX and other histone H3 chaperones play in restriction of HSV, we infected human fibroblasts that were systematically depleted of nuclear H3 chaperones. We found that the ATRX/DAXX complex is unique a

APA, Harvard, Vancouver, ISO, and other styles

49

Devi, Shameen, Michelle De Padua, and Iravathy Kalal. "Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors." Indian Journal of Neurosurgery 07, no. 02 (2018): 129–34. http://dx.doi.org/10.1055/s-0038-1668469.

Full text

Abstract:

Abstract Introduction The updated 2016 classification of gliomas incorporates well-established molecular parameters into the classification of diffuse gliomas, taking into account isocitrate dehydrogenase 1 (IDH1) mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) loss, and 1p/19q co-deletion. Aim and Objectives To study IDH1 and ATRX mutations in gliomas, 1p/19q co-deletion by fluorescent in situ hybridization (FISH) in oligodendroglioma, and to correlate IDH1, ATRX, and 1p/19q with tumor type and grade. Material and Methods Total 73 cases of gliomas were diagnosed on histolo

APA, Harvard, Vancouver, ISO, and other styles

50

Martínez, Haydee, Michelle Nagurney, Zi-Xuan Wang, et al. "ATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation." Journal of Neuropathology & Experimental Neurology 78, no. 8 (2019): 703–8. http://dx.doi.org/10.1093/jnen/nlz050.

Full text

Abstract:

Abstract Pineal parenchymal tumors are rare neoplasms, ranging from WHO Grade I to IV. There are few studies characterizing the molecular profiles of these tumors. ATRX alterations are strongly associated with the presence of the alternative lengthening of telomeres (ALT) phenotype, and within the central nervous system they tend to occur in subsets of gliomas, including those with IDH, NF1, or histone (H3 K27M or G34) mutations. Here, we identified ATRX frameshift mutations by next generation sequencing associated with corresponding protein loss in 2 cases of pineal parenchymal tumors of inte

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!