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PUF60-activated exons uncover altered 3 splice-site selection by germline missense mutations in a single RRM
Názov PUF60-activated exons uncover altered 3 splice-site selection by germline missense mutations in a single RRM Autor Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID Spoluautori Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Stejskalová Eva Obuca Mina Hiller Michael Staněk David Vořechovský Igor Zdroj.dok. Nucleic acids research. Vol. 46, no. 12 (2018), p. 6166-6187 Jazyk dok. eng - angličtina Krajina GB - Veľká Británia Druh dok. rozpis článkov z periodík (rbx) Ohlasy 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. 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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. 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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. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2018 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1093/nar/gky389 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence PUF60-activated exons uncover altered 3 ' splice-site selection by germline missense mutations in a single RRM.pdf Prístupný 7.7 MB 1 Vydavateľská verzia 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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