| ARID1B (6q25.3) / ZNF384 (12p13.31) | CREBBP (16p13.3) / ZNF384 (12p13.31) | EP300 (22q13.2) / ZNF384 (12p13.31) |
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EWSR1 (22q12.2) / ZNF384 (12p13.31) | SMARCA2 (9p24.3) / ZNF384 (12p13.31) | SYNRG (17q12) / ZNF384 (12p13.31) |
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TAF15 (17q12) / ZNF384 (12p13.31) | TCF3 (19p13.3) / ZNF384 (12p13.31) | ZNF384 (12p13.31) / CREBBP (16p13.3) |
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ZNF384 (12p13.31) / EIF4B (12q13.13) | ZNF384 (12p13.31) / EWSR1 (22q12.2) | ZNF384 (12p13.31) / RNF180 (5q12.3) |
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ZNF384 (12p13.31) / SDR16C5 (8q12.1) | ZNF384 (12p13.31) / TAF15 (17q12) |
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Entity | Acute lymphoblastic leukemia with t(12;17)(p13;q11) --> TAF15-ZNF384 |
Disease | pro-B Acute lymphoblastic leukemia with expression of myeloid antigens ( ANPEP/CD13 and/or CD33, and less frequently FUT4/CD15); acute myeloid leukemia. |
Prognosis | Relatively good prognosis. |
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| A) schematic representation of the reciprocal t(12;17)(p13;q11) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3' ZNF384 while RP11-101F21 partially overlaps with the 5' end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi). |
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Abnormal Protein | TAF15-ZNF384 |
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| Schematic representation of the TAF15-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; RGG, Arg-Gly-Gly rich region, (RNA binding domain); LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (see also Martini et al., Cancer Res 2002). |
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Entity | Acute lymphoblastic leukemia with t(12;19)(p13;p13) --> E2A- ZNF384 |
Disease | pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens. |
Prognosis | Relatively good prognosis. |
Cytogenetics | The t(12;19)(p13;p13) is cryptic |
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| A) schematic representation of the reciprocal t(12;19)(p13;p13) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3'ZNF384 while RP11-101F21 partially overlaps with the 5' end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi). |
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Abnormal Protein | ZNF384-E2A |
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Entity | Acute lymphoblastic leukemia with t(12;22)(p13;q12) --> EWSR1-ZNF384 |
Disease | pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens; biphenotypic leukemia. |
Prognosis | Relatively good prognosis. |
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| Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene. |
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Abnormal Protein | EWSR1-ZNF384 |
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| Schematic representation of the EWSR1-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains; QA, Gln-Ala repeat (see also Martini et al., Cancer Res 2002). |
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Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors. |
Bidwell JP, Torrungruang K, Alvarez M, Rhodes SJ, Shah R, Jones DR, Charoonpatrapong K, Hock JM, Watt AJ |
Critical reviews in eukaryotic gene expression. 2001 ; 11 (4) : 279-297. |
PMID 12067068 |
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Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter. |
Fan Z, Tardif G, Boileau C, Bidwell JP, Geng C, Hum D, Watson A, Pelletier JP, Lavigne M, Martel-Pelletier J |
Arthritis and rheumatism. 2006 ; 54 (8) : 2471-2480. |
PMID 16868967 |
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Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? |
Janssen H, Marynen P |
Experimental cell research. 2006 ; 312 (7) : 1194-1204. |
PMID 16510139 |
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Identifying genes that regulate bone remodeling as potential therapeutic targets. |
Krane SM |
The Journal of experimental medicine. 2005 ; 201 (6) : 841-843. |
PMID 15781576 |
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CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients. |
La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boqué C, Foà R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A |
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1696-1699. |
PMID 15990865 |
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Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia. |
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foà R, Hagemeijer A, Mecucci C, Marynen P |
Cancer research. 2002 ; 62 (19) : 5408-5412. |
PMID 12359745 |
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