| Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome. | Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. | 04/15/2024 |
| Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome. | Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.
Kwon YS, Jin SW, Song H., Free PMC Article | 02/15/2024 |
| Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis. | Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.
Togami K, Chung SS, Madan V, Booth CAG, Kenyon CM, Cabal-Hierro L, Taylor J, Kim SS, Griffin GK, Ghandi M, Li J, Li YY, Angelot-Delettre F, Biichle S, Seiler M, Buonamici S, Lovitch SB, Louissaint A Jr, Morgan EA, Jardin F, Piccaluga PP, Weinstock DM, Hammerman PS, Yang H, Konopleva M, Pemmaraju N, Garnache-Ottou F, Abdel-Wahab O, Koeffler HP, Lane AA., Free PMC Article | 05/21/2022 |
| ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development. | ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development.
He H, Hao J, Dong X, Wang Y, Xue H, Qu S, Choi SYC, Ci X, Wang Y, Wu R, Shi M, Zhao X, Collins C, Lin D, Wang Y., Free PMC Article | 02/5/2022 |
| ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. | ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.
Srinath M, Coberly E, Ebersol K, Binz K, Laziuk K, Gunning WT, Gruner B, Hammer R, Sathi BK. | 12/14/2019 |
| This meta-analysis indicates a positive effect of SF3B1 and an adverse prognostic effect of SRSF2, U2AF1, and ZRSR2 mutations in patients with myelodysplastic syndrome. | Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.
Wang X, Song X, Yan X., Free PMC Article | 06/15/2019 |
| We conclude that the common clinical features of patients with an isolated mutation of ZRSR2 are a macrocytic anemia without leukopenia, thrombocytopenia or an increase in marrow blast percentage | Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.
Fleischman RA, Stockton SS, Cogle CR. | 10/21/2017 |
| ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome | Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.
Madan V, Kanojia D, Li J, Okamoto R, Sato-Otsubo A, Kohlmann A, Sanada M, Grossmann V, Sundaresan J, Shiraishi Y, Miyano S, Thol F, Ganser A, Yang H, Haferlach T, Ogawa S, Koeffler HP., Free PMC Article | 02/13/2016 |
| The mutational status of the SRSF2, U2AF1 and ZRSR2 did not affect the response rate or survival in MDS patients who had received first-line decitabine treatment. | Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome.
Hong JY, Seo JY, Kim SH, Jung HA, Park S, Kim K, Jung CW, Kim JS, Park JS, Kim HJ, Jang JH. | 08/8/2015 |
| In univariate analysis, mutated SRSF2 predicted shorter overall survival and more frequent acute myeloid leukemia progression compared with wild-type SRSF2, whereas mutated U2AF1, ZRSR2 had no impact on patient outcome. | Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
Thol F, Kade S, Schlarmann C, Löffeld P, Morgan M, Krauter J, Wlodarski MW, Kölking B, Wichmann M, Görlich K, Göhring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M. | 06/16/2012 |
| Data show that through recognition of a common splicing element, Urp facilitates distinct steps of U2- and U12-type intron splicing. | The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing.
Shen H, Zheng X, Luecke S, Green MR., Free PMC Article | 02/12/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC., Free PMC Article | 03/25/2009 |