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PUF60-activated exons uncover altered 3 splice-site selection by germline missense mutations in a single RRM
Title PUF60-activated exons uncover altered 3 splice-site selection by germline missense mutations in a single RRM Author Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID Co-authors Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Stejskalová Eva Obuca Mina Hiller Michael Staněk David Vořechovský Igor Source document Nucleic acids research. Vol. 46, no. 12 (2018), p. 6166-6187 Language eng - English Country GB - Great Britian Document kind rozpis článkov z periodík (rbx) Citations TARI, Manel - MANCEAU, Valerie - SALONE, Jean de Matha - KOBAYASHI, Asaki - PASTRE, David - MAUCUER, Alexandre. U2AF(65) assemblies drive sequence-specific splice site recognition. In EMBO REPORTS. ISSN 1469-221X, 2019, vol. 20, no. 8, pp. Dostupné na: https://doi.org/10.15252/embr.201847604. BEAUCHAMP, Marie-Claude - ALAM, Sabrina Shameen - KUMAR, Shruti - JEROME-MAJEWSKA, Loydie Anne. Spliceosomopathies and neurocristopathies: Two sides of the same coin? In DEVELOPMENTAL DYNAMICS. ISSN 1058-8388, 2020, vol. 249, no. 8, pp. 924-945. Dostupné na: https://doi.org/10.1002/dvdy.183. SAHA, Kaushik - ENGLAND, Whitney - FERNANDEZ, Mike Minh - BISWAS, Tapan - SPITALE, Robert C. - GHOSH, Gourisankar. Structural disruption of exonic stem-loops immediately upstream of the intron regulates mammalian splicing. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, 2020, vol. 48, no. 11, pp. 6294-6309. Dostupné na: https://doi.org/10.1093/nar/gkaa358. LI, Na - ZHAN, Xianquan. Anti-parasite drug ivermectin can suppress ovarian cancer by regulating lncRNA-EIF4A3-mRNA axes. In EPMA JOURNAL. ISSN 1878-5077, 2020, vol. 11, no. 2, pp. 289-309. Dostupné na: https://doi.org/10.1007/s13167-020-00209-y. TAYLOR, Katarzyna - SOBCZAK, Krzysztof. Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, vol. 21, no. 14, pp. Dostupné na: https://doi.org/10.3390/ijms21145161. YAMADA, Mamiko - UEHARA, Tomoko - SUZUKI, Hisato - TAKENOUCHI, Toshiki - KOSAKI, Kenjiro. Protein elongation variant ofPUF60: Milder phenotypic end of the Verheij syndrome. In AMERICAN JOURNAL OF MEDICAL GENETICS PART A. ISSN 1552-4825, 2020, vol. 182, no. 11, pp. 2709-2714. Dostupné na: https://doi.org/10.1002/ajmg.a.61816. LONG, Qian - AN, Xin - CHEN, Miao - WANG, Nan - SUI, Silei - LI, Yixin - ZHANG, Changlin - LEE, Kaping - WANG, Xiaonan - TIAN, Tian - PAN, Yangxun - QIU, Huijuan - XIE, Fangyun - DENG, Wuguo - ZHENG, Fufu - HE, Liru. PUF60/AURKAAxis Contributes to Tumor Progression and Malignant Phenotypes in Bladder Cancer. In FRONTIERS IN ONCOLOGY. ISSN 2234-943X, 2020, vol. 10, no., pp. Dostupné na: https://doi.org/10.3389/fonc.2020.568015. AN, Jing - LUO, Zhehui - AN, Weiwei - CAO, Difei - MA, Jianli - LIU, Zhaoliang. Identification of spliceosome components pivotal to breast cancer survival. In RNA BIOLOGY. ISSN 1547-6286, 2021, vol. 18, no. 6, pp. 833-842. Dostupné na: https://doi.org/10.1080/15476286.2020.1822636. LATYPOVA, Xenia - DANG, Xiao - ZHANG, Jianguo - ISIDOR, Bertrand. Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015). In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, 2021, vol. 64, no. 4, pp. Dostupné na: https://doi.org/10.1016/j.ejmg.2021.104179. PUVVULA, Pavan Kumar - YU, Yao - SULLIVAN, Kaelan Renaldo - EYOB, Henok - ROSENBERG, Julian - WELM, Alana - HUFF, Chad - MOON, Anne M. Inhibiting an RBM39/MLL1 epigenomic regulatory complex with dominant-negative peptides disrupts cancer cell transcription and proliferation. In CELL REPORTS. ISSN 2211-1247, 2021, vol. 35, no. 9, pp. Dostupné na: https://doi.org/10.1016/j.celrep.2021.109156. XU, Caipeng - CHEN, Xiaohua - ZHANG, Xuetian - ZHAO, Dapeng - DOU, Zhihui - XIE, Xiaodong - LI, Hongyan - YANG, Hongying - LI, Qiang - ZHANG, Hong - DI, Cuixia. RNA-binding protein 39: a promising therapeutic target for cancer. In CELL DEATH DISCOVERY, 2021, vol. 7, no. 1, pp. Dostupné na: https://doi.org/10.1038/s41420-021-00598-7. LI, Mingrui - REN, Chao - ZHOU, Shuai - HE, Yuanlin - GUO, Yueshuai - ZHANG, Hao - LIU, Lu - CAO, Qiqi - WANG, Congjing - HUANG, Jie - HU, Yue - BAI, Xue - GUO, Xuejiang - SHU, Wenjie - HUO, Ran. Integrative proteome analysis implicates aberrant RNA splicing in impaired developmental potential of aged mouse oocytes. In AGING CELL. ISSN 1474-9718, 2021, vol. 20, no. 10, pp. Dostupné na: https://doi.org/10.1111/acel.13482. XU, L.R. - LIN, J.X. - LIU, Y.T. - HUA, B.X. - CHENG, Q.Y. - LIN, C.P. - YAN, Z.Q. - WANG, Y.P. - SUN, N. - QIAN, R.Z. - LU, C. CLOCK regulates Drp1 mRNA stability and mitochondrial homeostasis by interacting with PUF60. In CELL REPORTS. ISSN 2211-1247, APR 12 2022, vol. 39, no. 2. Dostupné na: https://doi.org/10.1016/j.celrep.2022.110635. FENNELL, A.P. - BAXTER, A.E. - BERKOVIC, S.F. - ELLAWAY, C.J. - FORWOOD, C. - HILDEBRAND, M.S. - KUMBLE, S. - MCKEOWN, C. - MOWAT, D. - POKE, G. - RAJAGOPALAN, S. - REGAN, B.M. - SCHEFFER, I.E. - STARK, Z. - STUTTERD, C.A. - TAN, T.Y. - WILKINS, E.J. - YEUNG, A. - HUNTER, M.F. The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. In AMERICAN JOURNAL OF MEDICAL GENETICS PART A. ISSN 1552-4825, DEC 2022, vol. 188, no. 12, p. 3432-3447. Dostupné na: https://doi.org/10.1002/ajmg.a.62950. HAN, H. - BEST, A.J. - BRAUNSCHWEIG, U. - MIKOLAJEWICZ, N. - LI, J.D.Y. - ROTH, J. - CHOWDHURY, F. - MANTICA, F. - NABEEL-SHAH, S. - PARADA, G. - BROWN, K.R. - O'HANLON, D. - WEI, J.R. - YAO, Y.X. - ABOU ZID, A. - COMSA, L.C. - JEN, M. - WANG, J. - DATTI, A. - GONATOPOULOS-POURNATZIS, T. - WEATHERITT, R.J. - GREENBLATT, J.F. - WRANA, J.L. - IRIMIA, M. - GINGRAS, A.C. - MOFFAT, J. - BLENCOWE, B.J. Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis. In MOLECULAR CELL. ISSN 1097-2765, AUG 18 2022, vol. 82, no. 16, p. 2982-+. Dostupné na: https://doi.org/10.1016/j.molcel.2022.06.036. HUANG, W.M. - KEW, C. - FERNANDES, S.D. - LöHRKE, A. - HAN, L. - DEMETRIADES, C. - ANTEBI, A. Decreased spliceosome fidelity and iegl-8/i intron retention inhibit mTORC1 signaling to promote longevity. In NATURE AGING. SEP 2022, vol. 2, no. 9, p. 796-+. Dostupné na: https://doi.org/10.1038/s43587-022-00275-z. LEMAITRE, F. - CHAKRAMA, F. - O'GRADY, T. - PEULEN, O. - RADEMAKER, G. - DEWARD, A. - CHABOT, B. - PIETTE, J. - COLIGE, A. - LAMBERT, C. - DEQUIEDT, F. - HABRAKEN, Y. The transcription factor c-Jun inhibits RBM39 to reprogram pre-mRNA splicing during genotoxic stress. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, DEC 9 2022, vol. 50, no. 22, p. 12768-12789. Dostupné na: https://doi.org/10.1093/nar/gkac1130. XU, Y.W. - NIJHUIS, A. - KEUN, H.C. RNA-binding motif protein 39 (RBM39): An emerging cancer target. In BRITISH JOURNAL OF PHARMACOLOGY. ISSN 0007-1188, JUN 2022, vol. 179, no. 12, p. 2795-2812. Dostupné na: https://doi.org/10.1111/bph.15331. MONTERO-HIDALGO, A.J. - PéREZ-GóMEZ, J.M. - MARTíNEZ-FUENTES, A.J. - GóMEZ-GóMEZ, E. - GAHETE, M.D. - JIMéNEZ-VACAS, J.M. - LUQUE, R.M. Alternative splicing in bladder cancer: potential strategies for cancer diagnosis, prognosis, and treatment. In WILEY INTERDISCIPLINARY REVIEWS-RNA. ISSN 1757-7004, MAY 2023, vol. 14, no. 3. Dostupné na: https://doi.org/10.1002/wrna.1760. ELéOUëT, M. - LU, C.P. - ZHOU, Y.J. - YANG, P. - MA, J.J. - XU, G.Q. Insights on the biological functions and diverse regulation of RNA-binding protein 39 and their implication in human diseases. In BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS. ISSN 1874-9399, MAR 2023, vol. 1866, no. 1. Dostupné na: https://doi.org/10.1016/j.bbagrm.2022.194902. BRADLEY, R.K. - ANCZUKóW, O. RNA splicing dysregulation and the hallmarks of cancer. In NATURE REVIEWS CANCER. ISSN 1474-175X, MAR 2023, vol. 23, no. 3, p. 135-155. Dostupné na: https://doi.org/10.1038/s41568-022-00541-7. CAMPAGNE, S. - JUTZI, D. - MALARD, F. - MATOGA, M. - ROMANE, K. - FELDMULLER, M. - COLOMBO, M. - RUEPP, M.D. - ALLAIN, F.H.T. Molecular basis of RNA-binding and autoregulation by the cancer-associated splicing factor RBM39. In NATURE COMMUNICATIONS. SEP 4 2023, vol. 14, no. 1. Dostupné na: https://doi.org/10.1038/s41467-023-40254-5. XU, N. - REN, Y.P. - BAO, Y.F. - SHEN, X.F. - KANG, J.H. - WANG, N. - WANG, Z.X. - HAN, X.L. - LI, Z. - ZUO, J. - WEI, G.H. - WANG, Z.F. - ZONG, W.X. - LIU, W. - XIE, G.C. - WANG, Y.B. PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing ofi CDC25C/i. In CELL REPORTS. ISSN 2211-1247, SEP 26 2023, vol. 42, no. 9. Dostupné na: https://doi.org/10.1016/j.celrep.2023.113041. MOSSMANN, D. - MüLLER, C. - PARK, S. - RYBACK, B. - COLOMBI, M. - RITTER, N. - WEISSENBERGER, D. - DAZERT, E. - COTO-LLERENA, M. - NUCIFORO, S. - BLUKACZ, L. - ERCAN, C. - JIMENEZ, V. - PISCUOGLIO, S. - BOSCH, F. - TERRACCIANO, L.M. - SAUER, U. - HEIM, M.H. - HALL, M.N. Arginine reprograms metabolism in liver cancer via RBM39. In CELL. ISSN 0092-8674, NOV 9 2023, vol. 186, no. 23, p. 5068-+. Dostupné na: https://doi.org/10.1016/j.cell.2023.09.011. WANG, Hongying - SHENG, Mao - QIU, Wenna - ZHOU, Lijun - NIU, Wensi - SUN, Yuhan - SHEN, Xuefeng - WANG, Xiaodong. Analysis of a child with Verheij syndrome due to variant of PUF60 gene. In Chinese Journal of Medical Genetics, 2023-12-01, 40, 12, pp. 1536-1540. ISSN 10039406. Dostupné na: https://doi.org/10.3760/cma.j.cn511374-20221206-00844-1. LECLAIR, Nathan K. - ANGAROLA, Brittany L. - ANCZUKOW, Olga. Aberrant RNA Splicing and Therapeutic Reprogramming in Cancer. In Rna-based Mechanisms in Cancer, 2023-01-01, pp. 13-62. Dostupné na: https://doi.org/10.1142/9789811248665_0002. MIAO, M.Z. - WANG, J. - GUO, C.Y. - SU, X.T. - SUN, L.Z. - LU, S.L. Identification of a noveli de/ii novo/ii PUF60/i variant causing Verheij syndrome in a fetus. In GENE. ISSN 0378-1119, MAR 1 2024, vol. 897. Dostupné na: https://doi.org/10.1016/j.gene.2023.148092. BAUM, E. - HUANG, W.M. - VINCENT-DELORME, C. - BRUNELLE, P. - ANTEBI, A. - DAFSARI, H.S. Novel Genetic and Phenotypic Expansion in Ameliorated iPUF60/i-Related Disorders. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. ISSN 1661-6596, FEB 2024, vol. 25, no. 4. Dostupné na: https://doi.org/10.3390/ijms25042053. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2018 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1093/nar/gky389 
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File name Access Size Downloaded Type License PUF60-activated exons uncover altered 3 ' splice-site selection by germline missense mutations in a single RRM.pdf available 7.7 MB 1 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2018 2017 11.561 Q1 9.025 Q1
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