Citations for
1ATRX, MED12, TP53
Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
Mäkinen N, Aavikko M, Heikkinen T, Taipale M, Taipale J, Koivisto-Korander R, Bützow R, Vahteristo P.
PLoS Genet 12(2):e1005850. doi: 10.1371/journal.pgen.1005850. eCollection 2016 Feb. 2016
2ATRX, MUS81
Rad54 and Mus81 cooperation promotes DNA damage repair and restrains chromosome missegregation.
Ghamrasni SE, Cardoso R, Li L, Guturi KK, Bjerregaard VA, Liu Y, Venkatesan S, Hande MP, Henderson JT, Sanchez O, Hickson ID, Hakem A, Hakem R.
Oncogene 35(37):4836-45. doi: 10.1038/onc.2016.16. Epub 2016 Feb 15. 2016
3ATRX, MAGT1, MRX95
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E.
Hum Mutat 35(1):58-62. 2014
4ATRX, DAXX, MEN1
DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.
Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA, Velculescu VE, Diaz LA Jr, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N.
Science 331(6021):1199-203. Epub 2011 Jan 20. 2011
5ATRX
ATP-dependent and independent functions of Rad54 in genome maintenance.
Agarwal S, van Cappellen WA, Guénolé A, Eppink B, Linsen SE, Meijering E, Houtsmuller A, Kanaar R, Essers J.
J Cell Biol 192(5):735-50. Epub 2011 Feb 28. 2011
6ATRX
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, Koopman P, Harley VR.
Hum Mol Genet 20(11):2213-24. Epub 2011 Mar 22. Erratum in: Hum Mol Genet. 2011 Sep 1;20(17):3535. 2011
7ATRX
Functional significance of mutations in the Snf2 domain of ATRX.
Mitson M, Kelley LA, Sternberg MJ, Higgs DR, Gibbons RJ.
Hum Mol Genet 20(13):2603-10. Epub 2011 Apr 19. 2011
8ATRX
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
Iwase S, Xiang B, Ghosh S, Ren T, Lewis PW, Cochrane JC, Allis CD, Picketts DJ, Patel DJ, Li H, Shi Y.
Nat Struct Mol Biol 18(7):769-76. doi: 10.1038/nsmb.2062. 2011
9ATRX
ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain.
Kernohan KD, Jiang Y, Tremblay DC, Bonvissuto AC, Eubanks JH, Mann MR, Bérubé NG.
Dev Cell 18(2):191-202.PMID: 20159591 2010
10ATRX, H3F3A, H3F3B
ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells.
Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, Hannan RD, George AJ, Morgan KA, Mann JR, Choo KH.
Genome Res 20(3):351-60. Epub 2010 Jan 28.PMID: 20110566 2010
11ATRX, DAXX, H3F3A, H3F3B
The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3.
Drané P, Ouararhni K, Depaux A, Shuaib M, Hamiche A.
Genes Dev 24(12):1253-65. Epub 2010 May 26. 2010
12ATRX, DAXX
Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres.
Lewis PW, Elsaesser SJ, Noh KM, Stadler SC, Allis CD.
Proc Natl Acad Sci U S A 107(32):14075-80. Epub 2010 Jul 22.PMID: 20651253 2010
13ATRX
Loss of maternal ATRX results in centromere instability and aneuploidy in the mammalian oocyte and pre-implantation embryo.
Baumann C, Viveiros MM, De La Fuente R.
PLoS Genet 6(9). pii: e1001137. 2010
14ATRX
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.
Law MJ, Lower KM, Voon HP, Hughes JR, Garrick D, Viprakasit V, Mitson M, De Gobbi M, Marra M, Morris A, Abbott A, Wilder SP, Taylor S, Santos GM, Cross J, Ayyub H, Jones S, Ragoussis J, Rhodes D, Dunham I, Higgs DR, Gibbons RJ.
Cell 143(3):367-78. 2010
15ATRX, DUPXQP
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM.
Am J Med Genet A 149A(4):760-6. 2009
16ATRX
Partial ATRX gene duplication causes ATR-X syndrome.
Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ.
Am J Med Genet A 149A(10):2317-20. No abstract available. PMID: 19764021 2009
17ATRX, RAD51
Rad51 protein stimulates the branch migration activity of Rad54 protein.
Rossi MJ, Mazin AV.
J Biol Chem 283(36):24698-706. Epub 2008 Jul 10. 2008
18ATRX
Patient mutations alter ATRX targeting to PML nuclear bodies.
BŽrubŽ NG, Healy J, Medina CF, Wu S, Hodgson T, Jagla M, Picketts DJ.
Eur J Hum Genet 16(2):192-201. Epub 2007 Oct 24. 2008
19ATRX
Mutations in the chromatin-associated protein ATRX.
Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.
Hum Mutat 29(6):796-802. 2008
20ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
Am J Med Genet A 146A(19):2501-11. 2008
21ATRX, EME1, MUS81
Human Rad54 protein stimulates human Mus81-Eme1 endonuclease.
Mazina OM, Mazin AV.
Proc Natl Acad Sci U S A 105(47):18249-54. Epub 2008 Nov 18. 2008
22ATRX
Loss of ATRX leads to chromosome cohesion and congression defects.
Ritchie K, Seah C, Moulin J, Isaac C, Dick F, Bérubé NG.
J Cell Biol 180(2):315-24.PMID: 1822727 2008
23ATRX, MECP2
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
Nan X, Hou J, Maclean A, Nasir J, Lafuente MJ, Shu X, Kriaucionis S, Bird A.
Proc Natl Acad Sci U S A [Epub ahead of print] 2007
24ATRX
Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
Muers MR, Sharpe JA, Garrick D, Sloane-Stanley J, Nolan PM, Hacker T, Wood WG, Higgs DR, Gibbons RJ.
Am J Hum Genet 80(6):1138-49. Epub 2007 Apr 25. 2007
25ATRX
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
Argentaro A, Yang JC, Chapman L, Kowalczyk MS, Gibbons RJ, Higgs DR, Neuhaus D, Rhodes D.
Proc Natl Acad Sci U S A 104(29):11939-44. Epub 2007 Jul 3. 2007
26ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
X linked mental retardation: a clinical guide.
Raymond FL.
J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
27ATRX
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.
Clin Genet 70(1):57-62. 2006
28ATRX
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.
Am J Med Genet A 140(20):2212-5. 2006
29ATRX
A novel splicing mutation of the ATRX gene in ATR-X syndrome.
Wada T, Sakakibara M, Fukushima Y, Saitoh S.
Brain Dev 28(5):322-5. Epub 2006 Jan 10. 2006
30ATRX
Visualization of Rad54, a chromatin remodeling protein, translocating on single DNA molecules.
Amitani I, Baskin RJ, Kowalczykowski SC.
Mol Cell 23(1):143-8. 2006
31ATRX
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattei MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE.
Eur J Hum Genet 13(2):176-83. 2005
32ATRX
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
Wada T, Sugie H, Fukushima Y, Saitoh S.
Am J Med Genet A 138(1):18-20. 2005
33ATRX
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.
Berube NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, Higgs DR, Slack RS, Picketts DJ.
J Clin Invest 115(2):258-67. 2005
34ATRX,ATR16
A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
Akahoshi K, Ohashi H, Hattori Y, Saitoh S, Fukushima Y, Wada T.
Am J Med Genet A 132(4):414-8. 2005
35ATRX
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
Mandel JL, Chelly J.
Eur J Hum Genet 12(9):689-93. 2004
36ATRX
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
Steensma DP, Higgs DR, Fisher CA, Gibbons RJ.
Blood 103(6):2019-26. Epub 2003 Oct 30. 2004
37ATRX, DAXX
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
Tang J, Wu S, Liu H, Stratt R, Barak OG, Shiekhattar R, Picketts DJ, Yang X.
J Biol Chem 279(19):20369-77. Epub 2004 Feb 27. 2004
38ATRX, CREBBP, DNMT3B, MECP2, RPS6KA3
Syndromes of disordered chromatin remodeling.
Ausio J, Levin DB, De Amorim GV, Bakker S, Macleod PM.
Clin Genet 64(2):83-95. 2003
39ATRX
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR.
Nat Genet 34(4):446-9. 2003
40ATRX, DAXX
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.
Xue Y, Gibbons R, Yan Z, Yang D, McDowell TL, Sechi S, Qin J, Zhou S, Higgs D, Wang W.
Proc Natl Acad Sci U S A 100(19):10635-40. 2003
41ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
Perturbations of chromatin structure in human genetic disease: recent advances.
Bickmore WA, Van Der Maarel SM.
Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
42ATRX, DNMT1, DNMT3B, HDAC1, HDAC2, KAT2B, KAT8, MBD1, MBD2, MECP2, SIN3A
Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns.
Craig JM, Earle E, Canham P, Wong LH, Anderson M, Choo KH.
Hum Mol Genet 12(23):3109-21. Epub 2003 Sep 30. 2003
43ATRX
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
Villard L, Fontes M.
Eur J Hum Genet 10(4):223-5. No abstract available. 2002
44ATRX
Expanding phenotype of XNP mutations: Mild to moderate mental retardation.
Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, Van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, Van Bokhoven H.
Am J Med Genet 110(3):243-7. 2002
45ATRX, CREBBP, DNMT3B, MECP2
Human diseases with underlying defects in chromatin structure and modification.
Hendrich B, Bickmore W.
Hum Mol Genet 10(20):2233-42. 2001
46ATRX
Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association.
Berube NG, Smeenk CA, Picketts DJ.
Hum Mol Genet 9(4):539-547. 2000
47SFMS, ATRX
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
Villard L, Fontes M, Ades LC, Gecz J.
Am J Med Genet 91(1):83-5. No abstract available. 2000
48ATRX
Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
Gibbons RJ, McDowell TL, Raman S, O'Rourke DM, Garrick D, Ayyub H, Higgs DR.
Nat Genet 24(4):368-71. 2000
49ATRX
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Guerrini R, Shanahan JL, Carrozzo R, Bonanni P, Higgs DR, Gibbons RJ.
Ann Neurol 47(1):117-21. 2000
50ATRX
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L.
J Med Genet 37(10):746-51. 2000
51ATRX
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, et al.
J Med Genet 36 : 183-186. 1999
52ATRX
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.
Lossi AM, et al.
Am J Hum Genet 65(2):558-62. No abstract available 1999
53ATRX
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, Chapman L, Rhodes D, Higgs DR.
Proc Natl Acad Sci U S A 96(24):13983-8 1999
54ATRX
Germline and gonosomal mosaicism in the ATR-X syndrome.
[No authors listed]
Eur J Hum Genet 7(8):933-6 1999
55ATRX, CWS
Carpenter-Waziri syndrome results from a mutation in XNP.
Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontes M, Curtis M.
Am J Med Genet 85(3):249-51. No abstract available. 1999
56EZH2, ATRX
Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.
Cardoso C, et al.
Hum Mol Genet 7 : 679-684. 1998
57ATRX
Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.
Picketts DJ, et al.
Mamm Genome 9 : 400-403. 1998
58ATRX
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR.
Nat Genet 17(2):146-8. 1997
59ATRX, JMS
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
Villard L, et al.
Am J Hum Genet 58 : 499-505. 1996
60JMS, ATRX
XNP mutation in a large family with Juberg-Marsidi syndrome.
Villard L, et al.
Nat Genet 12 : 359-360. 1996
61ATRX
A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
Ion A, et al.
Am J Hum Genet 58 : 1185-1191. 1996
62ATRX
ATRX encodes a novel member of the SNF2 family of proteins : mutations point to a common mechanism underlying the ATR-X syndrome.
Picketts DJ, et al.
Hum Mol Genet 5 : 1899-1907. 1996
63ATRX
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
Villard L, et al.
Eur J Hum Genet 4 : 316-320. 1996
64ATRX,ATR16
The alpha-thalassemia/mental retardation syndromes.
Gibbons RJ, Higgs DR.
Medicine (Baltimore) 75(2):45-52. Review. 1996
65ATRX
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
Gibbons RJ, et al.
Cell 80 : 837-845. 1995
66ATRX
Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.
Gecz J, et al.
Hum Mol Genet 3 : 39-44. 1994
67ATRX
X-linked mental retardation with non-deletional alpha thalassaemia (ATR-X) : further delineation of the phenotype.
Ogle R, et al.
J Med Genet 31 : 245-247. 1994
68ATRX
Cloning and characterization of a new human Xq13 gene, encoding a putative helicase.
Stayton CL, et al.
Hum Mol Genet 3 : 1957-1964. 1994
69ATRX
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.
Houdayer CI, et al.
Ann Genet 36 : 194-199. 1993
70ATRX
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome : localization to Xq12-q21.31 by X inactivation and linkage annalysis.
Gibbons RJ, et al.
Am J Hum Genet 51 : 1136-1149. 1992
71ATRX
The non-deletion alpha thalassemia/mental retardation syndrome : further support for X linkage.
Donnai D, et al.
J Med Genet 28 : 742-745. 1991
72ATRX
X linked alpha thalassemia/mental retardation: spectrum of clinical features in three related males.
Wilkie AOM, et al.
J Med Genet 28 : 738-741. 1991
73ATRX
The non-deletion type of alpha thalassemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
Wilkie AOM, et al.
J Med Genet 28 : 724. 1991
74ATRX
A newly defined X linked mental retardation syndrome associated with alpha thalassemia.
Gibbons RJ, et al.
J Med Genet 28 : 729-733. 1991
75ATRX
Alpha thalassemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.
Cole TRP, et al.
J Med Genet 28 : 734-737. 1991
76ATRX
Occurrence of the alpha thalassemia-mental retardation syndrome (non-deletional type) in an Australian male.
Harvey MP, et al.
J Med Genet 27 : 577-581. 1990
77ATRX
Unknown syndrome. A possible view X linked retardation syndrome : dysmorphic facies, microcephaly, hypotonia and small genitalia.
Porteous MEM, et al.
J Med Genet 27 : 339-340. 1990
78ATRX
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II- Cases without detectable abnormality of the alpha globin complex.
Wilkie AOM, et al.
Am J Hum Genet 46 : 1127-1140. 1990