Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 63

1.

Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing.

Andersson E, Eldfors S, Edgren H, Ellonen P, Väkevä L, Ranki A, Mustjoki S.

Exp Dermatol. 2014 May;23(5):366-8. doi: 10.1111/exd.12405.

PMID:
24689486
2.

Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.

Kiel MJ, Sahasrabuddhe AA, Rolland DC, Velusamy T, Chung F, Schaller M, Bailey NG, Betz BL, Miranda RN, Porcu P, Byrd JC, Medeiros LJ, Kunkel SL, Bahler DW, Lim MS, Elenitoba-Johnson KS.

Nat Commun. 2015 Sep 29;6:8470. doi: 10.1038/ncomms9470.

3.

A specific mutation in TBL1XR1 causes Pierpont syndrome.

Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.

J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. Erratum in: J Med Genet. 2016 Jun;53(6):430.

4.

Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas.

Gonzalez-Aguilar A, Idbaih A, Boisselier B, Habbita N, Rossetto M, Laurenge A, Bruno A, Jouvet A, Polivka M, Adam C, Figarella-Branger D, Miquel C, Vital A, Ghesquières H, Gressin R, Delwail V, Taillandier L, Chinot O, Soubeyran P, Gyan E, Choquet S, Houillier C, Soussain C, Tanguy ML, Marie Y, Mokhtari K, Hoang-Xuan K.

Clin Cancer Res. 2012 Oct 1;18(19):5203-11. doi: 10.1158/1078-0432.CCR-12-0845. Epub 2012 Jul 26.

5.

The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP.

Jung H, Yoo HY, Lee SH, Shin S, Kim SC, Lee S, Joung JG, Nam JY, Ryu D, Yun JW, Choi JK, Ghosh A, Kim KK, Kim SJ, Kim WS, Park WY, Ko YH.

Oncotarget. 2017 Mar 7;8(10):17038-17049. doi: 10.18632/oncotarget.14928.

6.

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

Prasad A, Rabionet R, Espinet B, Zapata L, Puiggros A, Melero C, Puig A, Sarria-Trujillo Y, Ossowski S, Garcia-Muret MP, Estrach T, Servitje O, Lopez-Lerma I, Gallardo F, Pujol RM, Estivill X.

J Invest Dermatol. 2016 Jul;136(7):1490-1499. doi: 10.1016/j.jid.2016.03.024. Epub 2016 Mar 30.

7.

The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.

da Silva Almeida AC, Abate F, Khiabanian H, Martinez-Escala E, Guitart J, Tensen CP, Vermeer MH, Rabadan R, Ferrando A, Palomero T.

Nat Genet. 2015 Dec;47(12):1465-70. doi: 10.1038/ng.3442. Epub 2015 Nov 9.

8.

Sézary syndrome is a unique cutaneous T-cell lymphoma as identified by an expanded gene signature including diagnostic marker molecules CDO1 and DNM3.

Booken N, Gratchev A, Utikal J, Weiss C, Yu X, Qadoumi M, Schmuth M, Sepp N, Nashan D, Rass K, Tüting T, Assaf C, Dippel E, Stadler R, Klemke CD, Goerdt S.

Leukemia. 2008 Feb;22(2):393-9. Epub 2007 Nov 22.

PMID:
18033314
9.

Functional copy number changes in Sézary syndrome: toward an integrated molecular cytogenetic map III.

Mao X, McElwaine S.

Cancer Genet Cytogenet. 2008 Sep;185(2):86-94. doi: 10.1016/j.cancergencyto.2008.05.006.

PMID:
18722877
10.

Deficiency of SATB1 expression in Sezary cells causes apoptosis resistance by regulating FasL/CD95L transcription.

Wang Y, Su M, Zhou LL, Tu P, Zhang X, Jiang X, Zhou Y.

Blood. 2011 Apr 7;117(14):3826-35. doi: 10.1182/blood-2010-07-294819. Epub 2011 Jan 26.

11.

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.

J Hum Genet. 2014 Oct;59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7.

PMID:
25102098
12.

The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1.

Parker H, An Q, Barber K, Case M, Davies T, Konn Z, Stewart A, Wright S, Griffiths M, Ross FM, Moorman AV, Hall AG, Irving JA, Harrison CJ, Strefford JC.

Genes Chromosomes Cancer. 2008 Dec;47(12):1118-25. doi: 10.1002/gcc.20613.

PMID:
18767146
13.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.

Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4.

PMID:
28687524
14.

Overexpression of c-myb in leukaemic and non-leukaemic variants of cutaneous T-cell lymphoma.

Poenitz N, Simon-Ackermann J, Gratchev A, Qadoumi M, Klemke CD, Stadler R, Kremer A, Radenhausen M, Henke U, Assaf C, Utikal J, Goerdt S, Dippel E.

Dermatology. 2005;211(2):84-92.

PMID:
16088151
15.

BCL2 and JUNB abnormalities in primary cutaneous lymphomas.

Mao X, Orchard G, Lillington DM, Child FJ, Vonderheid EC, Nowell PC, Bagot M, Bensussan A, Russell-Jones R, Young BD, Whittaker SJ.

Br J Dermatol. 2004 Sep;151(3):546-56.

PMID:
15377339
16.

Novel and highly recurrent chromosomal alterations in Sézary syndrome.

Vermeer MH, van Doorn R, Dijkman R, Mao X, Whittaker S, van Voorst Vader PC, Gerritsen MJ, Geerts ML, Gellrich S, Söderberg O, Leuchowius KJ, Landegren U, Out-Luiting JJ, Knijnenburg J, Ijszenga M, Szuhai K, Willemze R, Tensen CP.

Cancer Res. 2008 Apr 15;68(8):2689-98. doi: 10.1158/0008-5472.CAN-07-6398.

17.

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

Woollard WJ, Pullabhatla V, Lorenc A, Patel VM, Butler RM, Bayega A, Begum N, Bakr F, Dedhia K, Fisher J, Aguilar-Duran S, Flanagan C, Ghasemi AA, Hoffmann RM, Castillo-Mosquera N, Nuttall EA, Paul A, Roberts CA, Solomonidis EG, Tarrant R, Yoxall A, Beyers CZ, Ferreira S, Tosi I, Simpson MA, de Rinaldis E, Mitchell TJ, Whittaker SJ.

Blood. 2016 Jun 30;127(26):3387-97. doi: 10.1182/blood-2016-02-699843. Epub 2016 Apr 27.

18.

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

Fernandez-Mercado M, Pellagatti A, Di Genua C, Larrayoz MJ, Winkelmann N, Aranaz P, Burns A, Schuh A, Calasanz MJ, Cross NC, Boultwood J.

Br J Haematol. 2013 Oct;163(2):235-9. doi: 10.1111/bjh.12491. Epub 2013 Jul 24.

PMID:
23889083
19.

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.

Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W, Spanhol-Rosseto A, Klein HU, Dugas M, Schindela S, Trifonov V, Schnittger S, Haferlach C, Bassan R, Wells VA, Spinelli O, Chan J, Rossi R, Baldoni S, De Carolis L, Goetze K, Serve H, Peceny R, Kreuzer KA, Oruzio D, Specchia G, Di Raimondo F, Fabbiano F, Sborgia M, Liso A, Farinelli L, Rambaldi A, Pasqualucci L, Rabadan R, Haferlach T, Falini B.

Blood. 2011 Dec 1;118(23):6153-63. doi: 10.1182/blood-2011-07-365320. Epub 2011 Oct 19.

20.

Sézary syndrome: old enigmas, new targets.

Nicolay JP, Felcht M, Schledzewski K, Goerdt S, Géraud C.

J Dtsch Dermatol Ges. 2016 Mar;14(3):256-64. doi: 10.1111/ddg.12900. Review.

PMID:
26972187

Supplemental Content

Support Center