نتائج البحث - "Splicing Factor U2AF"

1

Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia

المصدر: Leukemia 34, 2621–2634 (2020)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4b31530b59e4faf05a198628ca8ad1aTest
https://doi.org/10.1038/s41375-020-0839-4Test

2

Identification of a small molecule splicing inhibitor targeting UHM domains

المؤلفون: David Pastré, Guillaume Bollot, Alexandre Maucuer, Jean de Matha Salone, Marie-Jeanne Clément, Pierrick Craveur, Krystel El Hage, Asaki Kobayashi

المساهمون: Structure et activité des biomolécules normales et pathologiques (SABNP), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Synsight

المصدر: FEBS Journal
FEBS Journal, 2021, 289 (3), pp.682-698. ⟨10.1111/febs.16199⟩
FEBS Journal, Wiley, 2021, ⟨10.1111/febs.16199⟩

مصطلحات موضوعية: Spliceosome, Magnetic Resonance Spectroscopy, RNA Splicing, [SDV]Life Sciences [q-bio], SF3b1, Computational biology, Molecular Dynamics Simulation, 010402 general chemistry, 01 natural sciences, Biochemistry, Homology (biology), Small Molecule Libraries, 03 medical and health sciences, Splicing factor, User-Computer Interface, splicing, U2AF2, Neoplasms, Humans, Mass Screening, Protein Interaction Domains and Motifs, Molecular Biology, 030304 developmental biology, 0303 health sciences, Virtual screening, Chemistry, RNA-Binding Proteins, splicing inhibitor, Cell Biology, Phosphoproteins, Splicing Factor U2AF, Small molecule, 0104 chemical sciences, Cancer cell, RNA splicing, Mutation, Spliceosomes, U2AF homology motif, RNA Splicing Factors, Hydrophobic and Hydrophilic Interactions, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9765a038e49a4490e92d62339a1630f6Test
https://hal.science/hal-03354012Test

3

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant

المؤلفون: Tokiko Fukuda, Taihei Tanaka, Tsutomu Ogata, Hirotomo Saitsu, Mitsuko Nakashima, Takuya Hiraide, Yohei Masunaga, Yumiko Ohkubo

المصدر: Journal of human genetics. 66(12)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc3499c51d5f079c7d8e5b165291866Test
https://pubmed.ncbi.nlm.nih.gov/34112922Test

4

Integrative RNA-omics Discovers GNAS Alternative Splicing as a Phenotypic Driver of Splicing Factor-Mutant Neoplasms

المؤلفون: Malgorzata Olszewska, Eirini P. Papapetrou, Julie Teruya-Feldstein, Andriana G. Kotini, Shailee Vora, Ernesto Guccione, Emily C. Wheeler, Daniel Mayer, Roger K. Sunahara, Gene W. Yeo, Lewis B. Silverman, Samuel S. Park

المصدر: Cancer Discov

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77bc381bfac4a0dd76ca5816698440bTest
https://pubmed.ncbi.nlm.nih.gov/34620690Test

5

Impaired hematopoiesis and leukemia development in mice with a conditional knock-in allele of a mutant splicing factor gene U2af1

المؤلفون: Tuo Zhang, Robert K. Bradley, Akihide Yoshimi, Lisa Garrett, Paul P. Liu, John Ferrarone, Benjamin H. Durham, Tao Zhen, Omar Abdel-Wahab, Dennis Liang Fei, Harold E. Varmus

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: 0301 basic medicine, Medical Sciences, Genotype, RNA Splicing, Mice, Transgenic, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Mice, Gene knockin, hemic and lymphatic diseases, U2AF1, medicine, Secondary Acute Myeloid Leukemia, Animals, Humans, Genetic Predisposition to Disease, Allele, Alleles, Mutation, Multidisciplinary, Leukemia, S34F, Myelodysplastic syndromes, Wild type, Biological Sciences, medicine.disease, Splicing Factor U2AF, myelodysplastic syndromes, Hematopoiesis, Haematopoiesis, 030104 developmental biology, RUNX1, chemistry, PNAS Plus, Gene Expression Regulation, splicing factor, Ethylnitrosourea, Core Binding Factor Alpha 2 Subunit, Cancer research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4494e3f0b7a925c8ac70416df4a2f36Test
http://europepmc.org/articles/PMC6217397Test

6

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

المساهمون: Pellagatti, Andrea [0000-0002-6122-0221], Armstrong, Richard N [0000-0001-7744-5890], Boultwood, Jacqueline [0000-0002-4330-2928], Apollo - University of Cambridge Repository

المصدر: Blood, Vol. 132, No 12 (2018) pp. 1225-1240

مصطلحات موضوعية: 0301 basic medicine, Spliceosome, Splicing Factor U2AF/genetics, DNA Repair, RNA Splicing, Immunology, Serine-Arginine Splicing Factors/genetics, Biology, medicine.disease_cause, Biochemistry, Cohort Studies, 03 medical and health sciences, Splicing factor, Phosphoproteins/genetics, hemic and lymphatic diseases, medicine, Humans, RNA Splicing Factors/genetics, Spliceosomes/genetics, Gene, Myelodysplastic Syndromes/epidemiology/genetics, Regulation of gene expression, Gene knockdown, Mutation, Serine-Arginine Splicing Factors, Cell Biology, Hematology, Phosphoproteins, Splicing Factor U2AF, Survival Analysis, Phenotype, 030104 developmental biology, Gene Expression Regulation, Myelodysplastic Syndromes, RNA splicing, Spliceosomes, Cancer research, RNA Splicing Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b773e0b61d3878902521ca0a229634fTest
https://doi.org/10.1182/blood-2018-04-843771Test

7

Aberrant Alternative Splicing in U2af1/Tet2 Double Mutant Mice Contributes to Major Hematological Phenotypes

المؤلفون: Alfonso Gutiérrez-Adán, José Cervera, Alessandro Liquori, Cristian Garcia-Ruiz, Raúl Fernández-González, Elisa González-Romero, Beatriz Rosón, Cristina Martínez-Valiente, Isabel Gómez-Redondo, Alejandra Sanjuan-Pla

المساهمون: Ministerio de Economía, Industria y Competitividad (España), Generalitat Valenciana, Asociación Española Contra el Cáncer, Martínez-Valiente, Cristina [0000-0001-9332-5776], Garcia-Ruiz, Cristian [0000-0003-2914-7914], Liquori, Alessandro [0000-0002-4842-5986], González-Romero, Elisa [0000-0001-8728-295X], Fernández-González, Raúl [0000-0003-1989-2945], Gómez-Redondo, Isabel [0000-0002-9319-7580], Cervera, José [0000-0001-8252-1106], Gutiérrez-Adán, Alfonso [0000-0001-9893-9179], Sanjuan-Pla, Alejandra [0000-0002-0170-5542], Martínez-Valiente, Cristina, Garcia-Ruiz, Cristian, Liquori, Alessandro, González-Romero, Elisa, Fernández-González, Raúl, Gómez-Redondo, Isabel, Cervera, José, Gutiérrez-Adán, Alfonso, Sanjuan-Pla, Alejandra

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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International Journal of Molecular Sciences, Vol 22, Iss 6963, p 6963 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 13

مصطلحات موضوعية: 0301 basic medicine, Somatic cell, QH301-705.5, Biology, Article, Catalysis, Dioxygenases, Inorganic Chemistry, Mice, 03 medical and health sciences, Splicing factor, alternative splicing, 0302 clinical medicine, Proto-Oncogene Proteins, U2AF1, Animals, Clustered Regularly Interspaced Short Palindromic Repeats, Epigenetics, Physical and Theoretical Chemistry, Progenitor cell, Biology (General), Molecular Biology, QD1-999, Spectroscopy, TET2, Organic Chemistry, Alternative splicing, General Medicine, Splicing Factor U2AF, Molecular biology, Computer Science Applications, myelodysplastic syndrome, DNA-Binding Proteins, Transplantation, Haematopoiesis, Chemistry, 030104 developmental biology, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, RNA splicing, RNA Splicing Factors, Myelodysplastic syndrome