Property Summary

NCBI Gene PubMed Count 153
PubMed Score 647.57
PubTator Score 279.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Breast cancer 3098 0.0 1.0
Carcinoma 2147 0.0 1.0
DOID:2627 14 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 6.265 3.1

Expression

  Differential Expression (17)

Disease log2 FC p
Rheumatoid Arthritis 2.000 2.9e-02
Waldenstrons macroglobulinemia 1.045 3.2e-02
astrocytic glioma -1.900 9.2e-03
ependymoma -1.400 3.8e-02
psoriasis -2.100 6.2e-05
atypical teratoid / rhabdoid tumor -1.400 2.5e-02
glioblastoma -1.500 3.4e-03
medulloblastoma -1.200 1.3e-02
medulloblastoma, large-cell -1.600 8.0e-04
hereditary spastic paraplegia -1.246 8.2e-03
lung cancer 1.200 7.6e-04
diabetes mellitus -1.400 1.3e-03
acute myeloid leukemia 1.500 3.7e-02
lung adenocarcinoma 1.197 2.4e-06
Pick disease 1.200 4.1e-03
ulcerative colitis 1.500 7.6e-06
ovarian cancer 2.500 2.3e-05

Gene RIF (99)

PMID Text
27029610 ATRX interacts with ZNF274, TRIM28 and SETDB1 and binds to the 3' exons of zinc finger genes that present an atypical H3K9me3/H3K36me3 chromatin signature. Depletion of ATRX or ZNF274 leads to decreased H3K9me3 levels at zinc finger genes and other atypical chromatin regions.
26891131 Frequent ATRX mutations and aberrant ATRX gene expression in uterine leiomyosarcomas.
26773061 We provide an overview of the individual components (ATRX, DAXX and/or H3.3) tested in each study and propose a model where the ATRX/DAXX chaperone complex deposits H3.3 to maintain the H3K9me3 modification at heterochromatin throughout the genome.
26428317 Loss of ATRX was highly associated with alternative lengthening of telomeres
26395639 ATRX loss may predict better clinical outcome in astrocytoma patients with p53 overexpression as compared to patients with wild-type ATRX
26373281 In the absence of ATRX, the histone variant macroH2A1.1 binds to the poly(ADP-ribose) polymerase tankyrase 1.
26340527 Daxx and Atrx safeguard the genome by silencing repetitive elements when DNA methylation levels are low.
26210286 For WHO grade II diffuse glioma, molecular classification using 1p/19qcodel, IDHmut, and ATRX loss more accurately predicts outcome and should be incorporated in the neuropathologic evaluation.
26190196 Alternative lengthening of telomeres is an important telomere maintenance mechanism in primary angiosarcomas. This feature is highly associated with loss of ATRX expression and is frequently observed in hepatic angiosarcomas.
26143912 This study showed that expression of ectopic ATRX triggers a suppression of the pathway and telomere shortening.
26055325 Genetic inactivation of ATRX provoked diminution in the amount of cohesin in subtelomeric regions of telomerase-positive glioma cells.
26022452 ATRX loss was the most likely mechanism of alternative telomere lengthening in liposarcoma and alternative telomere lengthening was a prognostic factor of poor outcome in dedifferentiated liposarcoma.
26017030 The incidence of ATRX mutations in acquired alpha-thalassemia myelodysplastic syndromes is low.
26001292 loss of ATRX function cooperates with one or more as-yet unidentified genetic or epigenetic alterations to activate Alternative Lengthening of Telomeres
25976463 Co-inheritance of novel ATRX gene mutation and alpha-globin/beta-globin gene mutations has been found in transfusion dependent beta-thalassemia Saudi Arabia patients.
25971279 Loss of ATRX is associated with DNA methylation pattern of chromosome end and impacts biological behaviors of astrocytic tumors.
25936994 Whole-exome sequencing revealed the presence of ATRX mutations: a novel c.6472A>G mutation in Case 1 and a previously reported c.6532C>T mutation in Case 2. These two cases expanded the genetic and clinical spectrum of ATRX syndrome, including brain MRI abnormalities.
25803170 Data identify MDM2 and ATRX as new regulators controlling geroconversion, the process by which quiescent cells become senescent.
25608029 Somatic ATRX mutations were found in pheochromocytomas and paragangliomas.
25538301 An interaction between ATRX and a previously uncharacterized histone modification (H3K9me3) in the central nervous system suggests a potential role for abnormal repetitive element transcription in pathological states manifested by ATRX dysfunction.
25487495 In neuroblastoma, alternative lengthening of telomere was caused by ATRX or DAXX gene alterations.
25439321 negative nuclear staining in a subgroup of ileal neuroendocrine tumors
25275136 Authors propose that Epstein-Barr virus tegument protein BNRF1 replaces ATRX to reprogram Daxx-mediated H3.3 loading, in turn generating chromatin suitable for latent gene expression.
25229770 We concluded that the alternative lengthening of telomeres phenotype in the leiomyosarcoma is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.
25210493 A higher number of gene mutations and the DAXX/ATRX and KRAS gene mutations are correlated with a poor prognosis of Chinese patients with pancreatic neuroendocrine tumors.
24810474 Low ATRX mRNA expression combined with IDH1/2 mutations are associated with astrocytic tumors.
24559763 Mutations of ATRX are associated with loss of nuclear ATRX protein expression, detectable by a commercially available antibody, thus turning ATRX into a promising prognostic candidate biomarker in the routine neuropathological setting
24468746 chromatin remodeler ATRX expression has a role in melanoma progression
24458433 The increased dosage of ATRX is the major pathogenic mechanism of this X-linked disorder.
24289169 ATRX syndrome causing mutation in codon 2085 in the helicase domain of ATRX, is reported from several families.
24148618 Loss of DAXX or ATRX is associated with chromosome instability in pancreatic neuroendocrine tumors and shorter survival times of patients.
24130152 A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified in a family with five males demonstrating intellectual disability (ID) and unusual skin findings (e.g., generalized pruritus).
23954140 The status of ATRX or DAXX protein loss in neuroendocrine tumor differed among the organs in which these tumors arose, and these proteins may play site-specific roles in the development of these tumors.
23904111 ATRX loss is a hallmark of astrocytic tumors
23801766 different architectural arrangements we observe for RAD54 with RAD51-DNA filaments may reflect the diverse roles of this protein in homologous recombination
23765250 Alternative lengthening of telomere phenotype and ATRX protein alterations are common in both pediatric and adult high-grade astrocytomas.
23681356 Our findings suggest that the ATRX protein seems to be involved in normal myelination.
23453691 Relating the cause of ATR-X syndrome to the function of the protein ATRX is a case in point
23391111 Studies indicate that mutations of the MEN-1 and ATRX/DAXX genes in sporadic pancreatic NETs (PNETs) provided insights into tumor development tumor development and therapy.
23361940 Our findings suggest that altered PTEN, ATRX, CHGA, and CHGB expression are associated with aggressive PNET phenotype in VHL and may serve as useful adjunct prognostic markers to Ki-67 in PNETs.
23329831 Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress
23185534 ATRX is a repressor of Alternative Lengthening of Telomeres.
23104868 ATRX mutation is a key molecular determinant in lower-grade glioma.
22976303 Daxx and ATRX pathway is required for transcriptional repression and chromatin assembly.
22886134 The data of this study showed that ATRX alterations are frequent in adult diffuse gliomas and are specific to astrocytic tumors carrying IDH1/2 and TP53 mutations.
22869205 Analysis allowed us to define two highly recurrent genetic signatures in gliomas: IDH1/ATRX (I-A) and IDH1/CIC/FUBP1 (I-CF).
22829774 Here we show that loss of ATRX protein and mutations in the ATRX gene are hallmarks of ALT-immortalized cell lines.
22787211 ATRX protein and its mRNA were depleted in cells lytically infected with HSV, and ATRX protein was also depleted in cells infected with human cytomegalovirus.
22583365 Positive ATRX immunostaining was observed in 95%, 97% and 93% of the GC, CRC, and PCA, respectively.
22575867 These findings establish the existence of ATRX and DAXX defects and the alternative lengthening of telomeres phenotype in pancreatic neuroendocrine tumors in the context of MEN-1 syndrome
22416102 ATRX mutations were associated with age at diagnosis in children and young adults with stage 4 neuroblastoma.
22391447 ATRX (alpha-thalassemia/MR, X-linked) is a novel macroH2A-interacting protein
22356911 RAD54 that lacks helicase activity is more efficient in DNA heterology bypass than BLM or REQ1 helicases.
22240898 Induction of ATRX expanded the size of promyelocytic leukemia nuclear body (PML-NB) and increased trimethylation of H3K9 (H3K9me3) and condensation of pericentromeric heterochromatin.
22129561 microduplications of MECP2 and ATRX in male patients with severe mental retardation
22102817 data demonstrate an important role of BNRF1 in supporting Epstein-Barr Virus early infection by interacting with Daxx and ATRX Daxx and ATRX repress viral gene expression during latency
22089611 study reports two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene
21986699 RAD54 monomers displayed a diffusive behavior on DNA unrelated to its motor activity.
21885354 our data reveal RAD54-dependent and -independent contributions of HR to the cellular sensitivity to UV-light, and they uncover that RAD54 can compensate for the loss of TLS polymerase eta with regard to UV-light sensitivity.
21851155 Role in chromatin assembly and genome structure. Its dysfunction or absence leads to devastating consequences in embryonic development and to human disease.
21719641 found 61% of pancreatic neuroendocrine tumors had abnormal telomeres; all of the tumors with abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein; ATRX mutations also correlate with abnormal telomeres in CNS tumors
21666679 The ADD cysteine-rich domain of ATRX is a histone H3-binding module.
21666677 The ADD domain of ATRX engages the N-terminal tail of histone H3 through two rigidly oriented binding pockets, one for unmodified Lys4 and the other for di- or trimethylated Lys9.
21505078 these mutant ATRX proteins are defective in translocating along DNA while one mutant, uniquely for a human disease-causing mutation, partially uncouples adenosine triphosphate (ATP) hydrolysis from DNA binding
21501635 RAD51 may function as a universal factor during HR, whereas RAD54 mainly functions in other types of homologous recombination (gene targeting or intra-chromosomal HR), which involves interaction with chromosomal DNA
21421568 Disruption of H3K9me3 binding may be a general pathogenicity pathway of ATRX mutations in the ADD domain.
21310198 The experiments demonstrate that ATRX can act as a cellular intrinsic antiviral defense in U2OS cells by blocking gene expression from incoming HCMV genomes and did not affect the replication of herpes simplex virus type 1.
21267006 Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability.
21252315 identification of mutations in pancreatic neuroendocrine tumors; 44% had somatic inactivating mutations in MEN1; 43% had mutations in genes encoding DAXX and ATRX; clinically, mutations in MEN1 and DAXX/ATRX genes were associated with better prognosis
21209221 this study suggested that aberrant CaMKII activation likely mediates abnormal spine formation in the prefrontal cortex.
21056573 These results indicate that hRad54 can facilitate hRad51-promoted strand exchange through various degrees of mismatching.
21029860 Study shows that ATRX binds G4 DNA in vitro, suggesting a common mechanism by which ATRX may influence a wide range of nuclear processes in the telomeric, subtelomeric, and interstitial regions of mammalian chromosomes.
20147399 These results suggest that ATRX and hDaxx act as a complex that contributes to intrinsic antiviral resistance to HSV-1 infection, which is counteracted by HSV-1 ICP0.
20110566 ATRX interacts with histones in maintaining telomere structural integrity in pluripotent embryonic stem cells.
19919584 proXNP is a good marker of cardiac output following pediatric cardiac surgery and might be a useful tool in the recognition of a low output state
19764021 Partial ATRX gene duplication causes ATR-X syndrome.
19671661 The N-terminal 1-212 amino acids of BLM of or an ATPase-dead mutant enhanced the ATPase and chromatin-remodeling activities of RAD54.
19444003 ATRX is present in adult human and rat testis and is expressed in the somatic cells; Sertoli, Leydig, and peritubular myoid cells, and also in germ cells; spermatogonia and early meiotic spermatocytes.
19088125 Atrx plays role in interneuron survival and differentiation.
19064565 Observational study of gene-disease association. (HuGE Navigator)
19017809 results demonstrate a link between branch migration activity of hRad54 and structure-specific endonuclease activity of hMus81-Eme1, suggesting that the Rad54 and Mus81-Eme1 proteins may cooperate in the processing of Holliday junction-like intermediates
18922870 ATRX has a role in repressing immediate-early transcription
18409179 Mutations in ATRX have been shown to perturb gene expression and DNA methylation; this is a report of 127 mutations including 32 reported here for the first time.
18227278 Study finds that ATRX is required for normal mitotic progression in human cultured cells and in neuroprogenitors.
17957225 Mutations represent functional hypomorphs and suggest that loss of proper targeting to promyelocytic leukemia nuclear bodies is an important contributor to the pathogenesis of the ATR-X syndrome.
17609377 The effects of individual point mutations on the folding state and stability of the ADD domain correlate well with the levels of mutant ATRX protein in patients, providing insights into the molecular pathophysiology of ATR-X syndrome.
17579672 some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein
17296936 Disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
16537041 REVIEW: ATRX encodes a trans-acting factor capable of influencing the expression of alpha-globin and other genes, and involved in alpha-thalassemia associated with mental retardation and acquired alpha-thalassemia associated with myelodysplastic syndrome
16376512 report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene.
15591283 genetic mechanisms responsible for the phenotype of patients carrying a premature stop mutation in the ATRX gene
15466868 Rad54 protein serves as a dsDNA gateway for the Rad51-ssDNA filament, promoting binding and an ATP hydrolysis-dependent translocation of dsDNA during the search for homologous sequences
15350606 ATRX as a chromatin remodeling protein, and its role in mammalian sex differentiation--REVIEW
14990586 the ATRX.Daxx complex is a novel ATP-dependent chromatin-remodeling complex, with ATRX being the core ATPase subunit and Daxx being the targeting subunit
14592816 series of novel point mutations in ATRX detected in archival DNA samples from marrow and/or blood of patients with myelodysplastic syndrome associated with alpha-thalassemia
12953102 forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies
12858175 in individuals with myelodysplasia associated with alpha-thalassemia, somatic mutations of the gene ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene
12205100 involved in homologous DNA pairing
11823444 findings indicate that ATRX dosage is crucial for normal development and organization of the cortex, and emphasize the relevance of our model for the study of ATRX function and disease pathogenesis

AA Sequence

MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEK      1 - 70
SKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDD     71 - 140
FKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDIS    141 - 210
RDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTAC    211 - 280
NSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPK    281 - 350
EMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM    351 - 420
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTG    421 - 490
GEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSS    491 - 560
VKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLG    561 - 630
QENSDNEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDK    631 - 700
RNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQ    701 - 770
AGKDDKGKRKRKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR    771 - 840
IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPK    841 - 910
KQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSED    911 - 980
DKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKKIR    981 - 1050
DKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKED   1051 - 1120
GCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLR   1121 - 1190
TSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD   1191 - 1260
DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEE   1261 - 1330
SKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQ   1331 - 1400
RPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEEEEEDENDDS   1401 - 1470
KSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLD   1471 - 1540
EDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHT   1541 - 1610
VLLCDKLDFSTALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI   1611 - 1680
IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTP   1681 - 1750
LQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCVQRKDY   1751 - 1820
TALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQDFQMLSRIWTHPWCLQ   1821 - 1890
LDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNS   1891 - 1960
RSRGGGEGNVDETGNNPSVSLKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMA   1961 - 2030
EEIGDKVLVFSQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE   2031 - 2100
EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQGT   2101 - 2170
MEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDTPMLPKDTILAEL   2171 - 2240
LQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTMRFNIPTGTNLPPVSFNSQTPYIP   2241 - 2310
FNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQ   2311 - 2380
ELDVKRREAIYNDVLTKQQMLISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSN   2381 - 2450
YQQIDMRGMYQPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM                               2451 - 2492
//

Text Mined References (172)

PMID Year Title
27029610 2016 ATRX binds to atypical chromatin domains at the 3' exons of zinc finger genes to preserve H3K9me3 enrichment.
26891131 2016 Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
26773061 2016 New players in heterochromatin silencing: histone variant H3.3 and the ATRX/DAXX chaperone.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26428317 2015 Comprehensive screening of alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.
26395639 2016 ATRX loss in adult supratentorial diffuse astrocytomas correlates with p53 over expression and IDH1 mutation and predicts better outcome in p53 accumulated patients.
26373281 2015 Loss of ATRX Suppresses Resolution of Telomere Cohesion to Control Recombination in ALT Cancer Cells.
26340527 2015 The Daxx/Atrx Complex Protects Tandem Repetitive Elements during DNA Hypomethylation by Promoting H3K9 Trimethylation.
26210286 2015 IDH mutation, 1p19q codeletion and ATRX loss in WHO grade II gliomas.
26190196 2015 Alternative lengthening of telomeres phenotype in malignant vascular tumors is highly associated with loss of ATRX expression and is frequently observed in hepatic angiosarcomas.
26143912 2015 Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.
26055325 2015 Genetic Inactivation of ATRX Leads to a Decrease in the Amount of Telomeric Cohesin and Level of Telomere Transcription in Human Glioma Cells.
26022452 2015 Alternative lengthening of telomeres and loss of ATRX are frequent events in pleomorphic and dedifferentiated liposarcomas.
26017030 2015 Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis.
26001292 2015 ATRX represses alternative lengthening of telomeres.
25976463 2015 Co-inheritance of novel ATRX gene mutation and globin (? & ?) gene mutations in transfusion dependent beta-thalassemia patients.
25971279 2015 Loss of ATRX, associated with DNA methylation pattern of chromosome end, impacted biological behaviors of astrocytic tumors.
25936994 2015 Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.
25803170 2015 MDM2 turnover and expression of ATRX determine the choice between quiescence and senescence in response to CDK4 inhibition.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25608029 2015 Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas.
25538301 2015 ATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neurons.
25487495 2014 Clinical features of ATRX or DAXX mutated neuroblastoma.
25439321 2015 Ileal neuroendocrine tumors show elevated activation of mammalian target of rapamycin complex.
25417162 2014 ATRX directs binding of PRC2 to Xist RNA and Polycomb targets.
25275136 2014 Viral reprogramming of the Daxx histone H3.3 chaperone during early Epstein-Barr virus infection.
25229770 2015 Leiomyosarcoma with alternative lengthening of telomeres is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25210493 2014 KRAS and DAXX/ATRX gene mutations are correlated with the clinicopathological features, advanced diseases, and poor prognosis in Chinese patients with pancreatic neuroendocrine tumors.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24810474 2014 ATRX mRNA expression combined with IDH1/2 mutational status and Ki-67 expression refines the molecular classification of astrocytic tumors: evidence from the whole transcriptome sequencing of 169 samples samples.
24651726 2014 ATRX dysfunction induces replication defects in primary mouse cells.
24559763 Clinical Neuropathology practice news 2-2014: ATRX, a new candidate biomarker in gliomas.
24500201 2014 Alternative Lengthening of Telomeres is characterized by reduced compaction of telomeric chromatin.
24468746 2014 Decreased expression of the chromatin remodeler ATRX associates with melanoma progression.
24458433 2014 Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24148618 2014 Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors.
24130152 2014 Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
23954140 2013 Clinicopathologic significance of immunostaining of ?-thalassemia/mental retardation syndrome X-linked protein and death domain-associated protein in neuroendocrine tumors.
23904111 2013 ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis.
23801766 2013 Combined optical and topographic imaging reveals different arrangements of human RAD54 with presynaptic and postsynaptic RAD51-DNA filaments.
23765250 2013 The alternative lengthening of telomere phenotype is significantly associated with loss of ATRX expression in high-grade pediatric and adult astrocytomas: a multi-institutional study of 214 astrocytomas.
23681356 2013 Neuroradiologic features in X-linked ?-thalassemia/mental retardation syndrome.
23453691 2013 ATRX and the replication of structured DNA.
23391111 2013 The genetics of neuroendocrine tumors.
23361940 2013 Altered PTEN, ATRX, CHGA, CHGB, and TP53 expression are associated with aggressive VHL-associated pancreatic neuroendocrine tumors.
23329831 2013 Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress.
23222847 2013 DAXX-dependent supply of soluble (H3.3-H4) dimers to PML bodies pending deposition into chromatin.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23185534 2012 Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres.
23104868 2012 Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.
22976303 2012 Single-cell analysis of Daxx and ATRX-dependent transcriptional repression.
22886134 2012 Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.
22869205 2012 Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas.
22829774 2012 Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.
22787211 2012 Herpes simplex virus is equipped with RNA- and protein-based mechanisms to repress expression of ATRX, an effector of intrinsic immunity.
22583365 2012 Expressional and mutational analysis of ATRX gene in gastric, colorectal and prostate cancers.
22575867 2012 Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors.
22416102 2012 Association of age at diagnosis and genetic mutations in patients with neuroblastoma.
22391447 2012 ATRX-mediated chromatin association of histone variant macroH2A1 regulates ?-globin expression.
22356911 2012 Polarity and bypass of DNA heterology during branch migration of Holliday junctions by human RAD54, BLM, and RECQ1 proteins.
22240898 2012 ATRX induction by mutant huntingtin via Cdx2 modulates heterochromatin condensation and pathology in Huntington's disease.
22129561 2012 Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
22102817 2011 EBV tegument protein BNRF1 disrupts DAXX-ATRX to activate viral early gene transcription.
22089611 2011 ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
21986699 2011 Protein-DNA interactions in high speed AFM: single molecule diffusion analysis of human RAD54.
21885354 2011 The response of mammalian cells to UV-light reveals Rad54-dependent and independent pathways of homologous recombination.
21851155 2011 ATRX in chromatin assembly and genome architecture during development and disease.
21719641 2011 Altered telomeres in tumors with ATRX and DAXX mutations.
21666679 2011 ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
21666677 2011 Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin.
21505078 2011 Functional significance of mutations in the Snf2 domain of ATRX.
21501635 2011 Over-expression of RAD51 or RAD54 but not RAD51/4 enhances extra-chromosomal homologous recombination in the human sarcoma (HT-1080) cell line.
21421568 2011 The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21310198 2011 Human cytomegalovirus immediate early gene expression in the osteosarcoma line U2OS is repressed by the cell protein ATRX.
21269460 2011 Initial characterization of the human central proteome.
21267006 2011 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
21252315 2011 DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.
21209221 2011 Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.
21056573 2011 From strand exchange to branch migration; bypassing of non-homologous sequences by human Rad51 and Rad54.
21029860 2010 ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.
20651253 2010 Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres.
20504901 2010 The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3.
20211137 2010 Distinct factors control histone variant H3.3 localization at specific genomic regions.
20147399 2010 Regulation of ICP0-null mutant herpes simplex virus type 1 infection by ND10 components ATRX and hDaxx.
20110566 2010 ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19919584 2010 Strong relationship between NT-proXNP levels and cardiac output following cardiac surgery in neonates and infants.
19764021 2009 Partial ATRX gene duplication causes ATR-X syndrome.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19671661 2009 BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19444003 2011 Localization of the chromatin remodelling protein, ATRX in the adult testis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19088125 2009 Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.
19064565 2008 Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk.
19017809 2008 Human Rad54 protein stimulates human Mus81-Eme1 endonuclease.
18922870 2008 Human cytomegalovirus protein pp71 displaces the chromatin-associated factor ATRX from nuclear domain 10 at early stages of infection.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18409179 2008 Mutations in the chromatin-associated protein ATRX.
18227278 2008 Loss of ATRX leads to chromosome cohesion and congression defects.
17957225 2008 Patient mutations alter ATRX targeting to PML nuclear bodies.
17609377 2007 Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
17579672 2007 Partial duplications of the ATRX gene cause the ATR-X syndrome.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17296936 2007 Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
17221867 2007 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16955409 2006 ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16537041 2006 De novo and acquired forms of alpha thalassemia.
16480427 2006 A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
16376512 2006 A novel splicing mutation of the ATRX gene in ATR-X syndrome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16266892 2005 A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.
16222662 2005 Asplenia in ATR-X syndrome: a second report.
15882967 2005 The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain.
15772651 2005 The DNA sequence of the human X chromosome.
15635413 2005 Nucleolar proteome dynamics.
15591283 2004 Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.
15565397 2005 A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
15508018 2005 Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
15466868 2004 Human Rad54 protein stimulates DNA strand exchange activity of hRad51 protein in the presence of Ca2+.
15350606 2004 ATRX and sex differentiation.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14990586 2004 A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
14690447 2003 Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.
14645126 2004 Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis.
14592816 2004 Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
12953102 2003 The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.
12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
12777533 2003 Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12205100 2002 Homologous DNA pairing by human recombination factors Rad51 and Rad54.
12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.
11823444 2002 Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice.
11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
10995512 2000 Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
10851248 2000 A novel human rad54 homologue, Rad54B, associates with Rad51.
10751095 2000 Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
10742099 2000 Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10699177 2000 Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association.
10660327 1998 New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.
10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.
10204841 1999 Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
9499421 1998 Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.
9326931 1997 Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
9321665 1997 Interaction of human recombination proteins Rad51 and Rad54.
9244431 1997 Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
9043863 1996 A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
8968741 1996 ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8630485 1996 XNP mutation in a large family with Juberg-Marsidi syndrome.
8503439 1993 The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
8242062 1993 Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts.
8162050 1994 Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.
8001970 1994 Integration of gene maps: chromosome X.
7874112 1994 Cloning and characterization of a new human Xq13 gene, encoding a putative helicase.
7697714 1995 Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
3658675 1987 RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.
3177467 Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
1684092 1991 Smith-Fineman-Myers syndrome in two brothers.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.
1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.