| 1 | NSD1, NSD2, NSD3
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| Molecular basis of nucleosomal H3K36 methylation by NSD methyltransferases.
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| Li W, Tian W, Yuan G, Deng P, Sengupta D, Cheng Z, Cao Y, Ren J, Qin Y, Zhou Y, Jia Y, Gozani O, Patel DJ, Wang Z
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| Nature. Feb;590(7846):498-503. doi: 10.1038/s41586-020-03069-8. Epub 2020 Dec 23. 2021
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| 2 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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| 3 | NSD1, PRB4
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| Whole-exome sequencing reveals novel mutations and epigenetic regulation in hypopharyngeal carcinoma.
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| Wu P, Wu H, Tang Y, Luo S, Fang X, Xie C, He J, Zhao S, Wang X, Xu J, Chen X, Li D, Yang H, Wang J.
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| Oncotarget. Jul 28;8(49):85326-85340. doi: 10.18632/oncotarget.19674. 2017
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| 4 | DUP5Q35, NSD1
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| Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age.
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| Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY.
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| Am J Med Genet A 155(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12.
2011
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| 5 | NSD1, STO
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| Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
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| Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE.
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| Am J Med Genet A 155(9):2105-11. doi: 10.1002/ajmg.a.34156. Epub 2011 Aug 10.
2011
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| 6 | NSD1
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| The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
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| Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM.
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| J Biol Chem 286(10):8361-8. Epub 2010 Dec 31.
2011
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| 7 | NSD1, STO
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| Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene.
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| Hirai N, Matsune K, Ohashi H.
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| Am J Med Genet A 155(12):2933-9. doi: 10.1002/ajmg.a.33969. Epub 2011 Oct 19.
2011
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| 8 | NSD1, NSD2, NSD3
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| Structural insights into the regulation and the recognition of histone marks by the SET domain of NSD1.
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| Morishita M, di Luccio E.
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| Biochem Biophys Res Commun 412(2):214-9. Epub 2011 Jul 22. 2011
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| 9 | NSD1, NUP98
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| NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern.
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| Hollink IH, van den Heuvel-Eibrink MM, Arentsen-Peters ST, Pratcorona M, Abbas S, Kuipers JE, van Galen JF, Beverloo HB, Sonneveld E, Kaspers GJ, Trka J, Baruchel A, Zimmermann M, Creutzig U, Reinhardt D, Pieters R, Valk PJ, Zwaan CM.
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| Blood 118(13):3645-56. Epub 2011 Aug 2.
2011
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| 10 | CFDP1, GTF2I, NSD1, SEC23A
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| Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
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| Makeyev AV, Bayarsaihan D.
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| Cleft Palate Craniofac J 48(1):109-16. doi: 10.1597/09-093. Epub 2010 Apr 7.
2011
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| 11 | DUP5Q35, NSD1, STO
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| A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
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| Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.
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| Eur J Hum Genet 18(2):258-61. Epub 2009 Oct 21. 2010
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| 12 | KDM2A, NSD1
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| Regulation of NF-kappaB by NSD1/FBXL11-dependent reversible lysine methylation of p65.
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| Lu T, Jackson MW, Wang B, Yang M, Chance MR, Miyagi M, Gudkov AV, Stark GR.
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| Proc Natl Acad Sci U S A 107(1):46-51. Epub 2009 Dec 22.PMID: 20080798 2010
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| 13 | NSD1
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| Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function.
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| Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB.
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| Proc Natl Acad Sci U S A 107(39):16952-7. Epub 2010 Sep 13.PMID: 20837538 2010
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| 14 | NSD1
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| Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.
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| Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, Losson R, Alaminos M, Cheung NK, Rahman N, Esteller M.
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| Proc Natl Acad Sci U S A 106(51):21830-5. Epub 2009 Dec 14.PMID: 20018718 2009
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| 15 | NSD1, STO
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| Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
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| Kotilainen J, Pohjola P, Pirinen S, Arte S, Nieminen P.
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| Am J Med Genet A 149A(11):2409-14.PMID: 19876911 2009
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| 16 | NSD1, STO
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| MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
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| Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.
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| Eur J Med Genet 52(5):333-6. Epub 2009 Jul 9.PMID: 19596467 2009
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| 17 | NSD1, STO
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| Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
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| Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O.
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| Eur J Med Genet 52(5):306-10. Epub 2009 Jun 21.PMID: 19545651 2009
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| 18 | STO, NSD1
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| Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
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| Malan V, De Blois MC, Prieur M, Perrier-Waill MC, Huguet-Nedjar C, Gegas L, Turleau C, Vekemans M, Munnich A, Romana SP.
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| Clin Genet 73(1):89-91. Epub 2007 Nov 27. No abstract available. 2008
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| 19 | NSD1, STO
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| Alu-related 5q35 microdeletions in Sotos syndrome.
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| Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N.
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| Clin Genet 74(4):384-91. Epub 2008 May 25.
2008
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| 20 | STO,NSD1
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| Sotos syndrome.
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| Tatton-Brown K, Rahman N.
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| Eur J Hum Genet 15(3):264-71. Epub 2006 Sep 13. 2007
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| 21 | NSD1, NSD2, NSD3
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| NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis.
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| Wang GG, Cai L, Pasillas MP, Kamps MP.
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| Nat Cell Biol 9(7):804-12. Epub 2007 Jun 24. 2007
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| 22 | NSD1, STO
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| Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
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| Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, HŽron D, David A, GŽrard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, FrŽbourg T, BŸrglen L.
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| Hum Mutat 28(11):1098-107. 2007
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| 23 | STO, NSD1
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| Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
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| Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N.
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| Am J Med Genet A 140(1):70-3. 2006
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| 24 | STO, NSD1
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| Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion.
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| Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N.
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| Am J Hum Genet 76(1):52-67. Epub 2004 Nov 16. 2005
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| 25 | STO, NSD1
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| Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
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| Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR.
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| Hum Mol Genet 14(4):535-42. Epub 2005 Jan 07. 2005
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| 26 | STO, NSD1
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| dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.
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| Melchior L, Schwartz M, Duno M.
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| Ann Hum Genet 69(Pt 2):222-6. 2005
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| 27 | NSD1, STO
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| Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
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| Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F.
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| Am J Med Genet A 134(3):247-53. 2005
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| 28 | NSD1, STO
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| Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations.
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| Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration.
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| Am J Hum Genet 77(2):193-204. Epub 2005 Jun 7. 2005
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| 29 | NSD1, NSD2, NSD3
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| NSD1 mutations in Sotos syndrome.
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| Faravelli F.
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| Am J Med Genet C Semin Med Genet 137(1):24-31. 2005
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| 30 | NSD1, STO
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| Familial gigantism caused by an NSD1 mutation.
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| van Haelst MM, Hoogeboom JJ, Baujat G, Bruggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ.
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| Am J Med Genet A 139(1):40-4. 2005
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| 31 | NSD1, STO
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| NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
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| Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S.
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| Genet Med 7(8):524-33. 2005
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| 32 | STO, BWS, NSD1
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| Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
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| Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.
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| Am J Hum Genet 74(4):715-20. Epub 2004 Mar 01. 2004
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| 33 | STO, NSD1
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| Clinical features of NSD1-positive Sotos syndrome.
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| Tatton-Brown K, Rahman N.
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| Clin Dysmorphol 13(4):199-204. 2004
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| 34 | ZNF496, NSD1
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| Nizp1, a novel multitype zinc finger protein that interacts with the NSD1 histone lysine methyltransferase through a unique C2HR motif.
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| Nielsen AL, Jorgensen P, Lerouge T, Cervino M, Chambon P, Losson R.
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| Mol Cell Biol 24(12):5184-96. 2004
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| 35 | NSD1, STO
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| Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.
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| De Boer L, Van Duyvenvoorde HA, Willemstein-Van Hove EC, Hoogerbrugge CM, Van Doorn J, Maassen JA, Karperien M, Wit JM.
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| Eur J Endocrinol 151(3):333-41. 2004
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| 36 | NSD1
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| Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
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| Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto N.
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| J Med Genet 40(1):51-4. No abstract available. 2003
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| 37 | NSD1, STO, WVSS1
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| NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
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| Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N.
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| Am J Hum Genet 72(1):132-43. 2003
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| 38 | NSD1
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| Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
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| Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K.
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| J Med Genet 40(4):285-9. No abstract available. 2003
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| 39 | NSD1, STO, WVSS1
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| Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
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| Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V.
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| J Med Genet 40(6):436-40. 2003
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| 40 | ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
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| Perturbations of chromatin structure in human genetic disease: recent advances.
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| Bickmore WA, Van Der Maarel SM.
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| Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
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| 41 | STO, NSD1
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| Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
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| Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.
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| Hum Mutat 22(5):378-87 2003
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| 42 | NSD1, STO
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| Haploinsufficiency of NSD1 causes Sotos syndrome.
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| Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N.
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| Nat Genet 30(4):365-6. 2002
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| 43 | NSD1, NUP98
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| Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia.
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| Panarello C, Rosanda C, Morerio C.
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| Genes Chromosomes Cancer 35(3):277-81. 2002
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| 44 | NSD1, NSD2, NSD3
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| NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.
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| Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P.
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| Genomics 74(1):79-88. 2001
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| 45 | NSD1, NUP98
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| A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.
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| Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS.
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| Blood 98(4):1264-7. 2001
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| 46 | NSD1
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| Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.
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| Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N.
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| Gene 279(2):197-204. 2001
|