| 1 | ATRX, BRD9, RAD51
|
| The bromodomain containing protein BRD-9 orchestrates RAD51-RAD54 complex formation and regulates homologous recombination-mediated repair.
|
| Zhou Q, Huang J, Zhang C, Zhao F, Kim W, Tu X, Zhang Y, Nowsheen S, Zhu Q, Deng M, Chen Y, Qin B, Luo K, Liu B, Lou Z, Mutter RW, Yuan J.
|
| Nat Commun. May 26;11(1):2639. doi: 10.1038/s41467-020-16443-x 2020
|
| 2 | ATRX, DAXX
|
| ATRX affects the repair of telomeric DSBs by promoting cohesion and a DAXX-dependent activity
|
| Lovejoy CA, Takai K, Huh MS, Picketts DJ, de Lange T.
|
| PLoS Biol. Jan 2;18(1):e3000594. doi: 10.1371/journal.pbio.3000594. 2020
|
| 3 | ATRX
|
| Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity
|
| Gugustea R, Tamming RJ, Martin-Kenny N, Bérubé NG, Leung LS.
|
| Hippocampus. Jun;30(6):565-581. doi: 10.1002/hipo.23174. Epub 2019 Nov 12 2020
|
| 4 | ATRX
|
| A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
|
| Stabile M, Colavito D, Del Giudice E, Rispoli AF, Ingenito MC, Naumova AK.
|
| Mol Med Rep. Dec;22(6):4561-4566. doi: 10.3892/mmr.2020.11574. Epub 2020 Oct 9 2020
|
| 5 | ATRX, DAXX
|
| ATRX loss induces telomere dysfunction and necessitates induction of alternative lengthening of telomeres during human cell immortalization
|
| Li F, Deng Z, Zhang L, Wu C, Jin Y, Hwang I, Vladimirova O, Xu L, Yang L, Lu B, Dheekollu J, Li JY, Feng H, Hu J, Vakoc CR, Ying H, Paik J, Lieberman PM, Zheng H.
|
| EMBO J. 2019 Oct 1;38(19):e96659. doi: 10.15252/embj.201796659. Epub 2019 Aug 27. 2019
|
| 6 | ATRX, MECP2
|
| ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation
|
| Marano D, Fioriniello S, Fiorillo F, Gibbons RJ, D'Esposito M, Della Ragione F.
|
| Int J Mol Sci. Oct 29;20(21):5371. doi: 10.3390/ijms20215371 2019
|
| 7 | ATRX
|
| ATRX Promotes DNA Repair Synthesis and Sister Chromatid Exchange during Homologous Recombination
|
| Juhász S, Elbakry A, Mathes A, Löbrich M.
|
| Mol Cell. Jul 5;71(1):11-24.e7. doi: 10.1016/j.molcel.2018.05.014. Epub 2018 Jun 21. 2018
|
| 8 | ATRX, DMRT2
|
| TERRA RNA Antagonizes ATRX and Protects Telomeres
|
| Chu HP, Cifuentes-Rojas C, Kesner B, Aeby E, Lee HG, Wei C, Oh HJ, Boukhali M, Haas W, Lee JT.
|
| Cell. Jun 29;170(1):86-101.e16. doi: 10.1016/j.cell.2017.06.017 2017
|
| 9 | ATRX, 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
|
| 10 | ATRX, 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
|
| 11 | ATRX
|
| ATRX loss promotes tumor growth and impairs nonhomologous end joining DNA repair in glioma
|
| Koschmann C, Calinescu AA, Nunez FJ, Mackay A, Fazal-Salom J, Thomas D, Mendez F, Kamran N, Dzaman M, Mulpuri L, Krasinkiewicz J, Doherty R, Lemons R, Brosnan-Cashman JA, Li Y, Roh S, Zhao L, Appelman H, Ferguson D, Gorbunova V, Meeker A, Jones C, Lowenstein PR, Castro MG.
|
| Sci Transl Med. Mar 2;8(328):328ra28. doi: 10.1126/scitranslmed.aac8228. 2016
|
| 12 | ATRX, 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
|
| 13 | ATRX, RAD51
|
| Analysis of the activities of RAD54, a SWI2/SNF2 protein, using a specific small-molecule inhibitor
|
| Deakyne JS, Huang F, Negri J, Tolliday N, Cocklin S, Mazin AV.
|
| J Biol Chem. Nov 1;288(44):31567-80. doi: 10.1074/jbc.M113.502195. Epub 2013 Sep 16. 2013
|
| 14 | ATRX, 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
|
| 15 | ATRX
|
| 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
|
| 16 | ATRX
|
| 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
|
| 17 | ATRX
|
| 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
|
| 18 | ATRX
|
| 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
|
| 19 | ATRX
|
| 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
|
| 20 | ATRX, 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
|
| 21 | ATRX, 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
|
| 22 | ATRX, 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
|
| 23 | ATRX
|
| 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
|
| 24 | ATRX
|
| 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
|
| 25 | ATRX, 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
|
| 26 | ATRX
|
| 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
|
| 27 | ATM, ATRX, RAD54B
|
| Analysis of the relationships between ATM and the Rad54 paralogs involved in homologous recombination repair.
|
| Kirshner M, Rathavs M, Nizan A, Essers J, Kanaar R, Shiloh Y, Barzilai A.
|
| DNA Repair (Amst) 8(2):253-61. Epub 2008 Dec 30. 2009
|
| 28 | ATRX, 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
|
| 29 | ATRX
|
| Patient mutations alter ATRX targeting to PML nuclear bodies.
|
| Brub 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
|
| 30 | ATRX
|
| 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
|
| 31 | ACLS1, 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
|
| 32 | ATRX, 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
|
| 33 | ATRX
|
| 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
|
| 34 | ATRX, 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
|
| 35 | ATRX
|
| 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
|
| 36 | ATRX
|
| 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
|
| 37 | ACSL4, 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
|
| 38 | ATRX
|
| 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
|
| 39 | ATRX
|
| 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
|
| 40 | ATRX
|
| 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
|
| 41 | ATRX
|
| 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
|
| 42 | ATRX
|
| 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
|
| 43 | ATRX
|
| 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
|
| 44 | ATRX
|
| 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
|
| 45 | ATRX,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
|
| 46 | ATRX
|
| 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
|
| 47 | ATRX
|
| 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
|
| 48 | ATRX, 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
|
| 49 | ATRX, 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
|
| 50 | ATRX
|
| 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
|
| 51 | ATRX, 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
|
| 52 | ATRX, 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
|
| 53 | ATRX, 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
|
| 54 | ATRX
|
| 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
|
| 55 | ATRX
|
| 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
|
| 56 | ATRX, 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
|
| 57 | ATRX
|
| 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
|
| 58 | SFMS, 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
|
| 59 | ATRX
|
| 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
|
| 60 | ATRX
|
| 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
|
| 61 | ATRX
|
| 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
|
| 62 | ATRX
|
| Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
|
| Villard L, et al.
|
| J Med Genet 36 : 183-186. 1999
|
| 63 | ATRX
|
| 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
|
| 64 | ATRX
|
| 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
|
| 65 | ATRX
|
| Germline and gonosomal mosaicism in the ATR-X syndrome.
|
| [No authors listed]
|
| Eur J Hum Genet 7(8):933-6 1999
|
| 66 | ATRX, 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
|
| 67 | EZH2, 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
|
| 68 | ATRX
|
| Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.
|
| Picketts DJ, et al.
|
| Mamm Genome 9 : 400-403. 1998
|
| 69 | ATRX
|
| 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
|
| 70 | ATRX, 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
|
| 71 | JMS, ATRX
|
| XNP mutation in a large family with Juberg-Marsidi syndrome.
|
| Villard L, et al.
|
| Nat Genet 12 : 359-360. 1996
|
| 72 | ATRX
|
| 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
|
| 73 | ATRX
|
| 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
|
| 74 | ATRX
|
| 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
|
| 75 | ATRX,ATR16
|
| The alpha-thalassemia/mental retardation syndromes.
|
| Gibbons RJ, Higgs DR.
|
| Medicine (Baltimore) 75(2):45-52. Review. 1996
|
| 76 | ATRX
|
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