ES2887201T3 - Variantes de empalme asociadas con mutantes neomórficos de SF3B1 - Google Patents
Variantes de empalme asociadas con mutantes neomórficos de SF3B1 Download PDFInfo
- Publication number
- ES2887201T3 ES2887201T3 ES16766420T ES16766420T ES2887201T3 ES 2887201 T3 ES2887201 T3 ES 2887201T3 ES 16766420 T ES16766420 T ES 16766420T ES 16766420 T ES16766420 T ES 16766420T ES 2887201 T3 ES2887201 T3 ES 2887201T3
- Authority
- ES
- Spain
- Prior art keywords
- sf3b1
- seq
- cell
- cancer
- neomorphic
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Active
Links
- 101000707567 Homo sapiens Splicing factor 3B subunit 1 Proteins 0.000 title claims abstract description 165
- 102100031711 Splicing factor 3B subunit 1 Human genes 0.000 title claims abstract description 165
- 230000003538 neomorphic effect Effects 0.000 title claims abstract description 81
- 206010028980 Neoplasm Diseases 0.000 claims abstract description 86
- 238000000034 method Methods 0.000 claims abstract description 63
- 201000011510 cancer Diseases 0.000 claims abstract description 59
- 230000035772 mutation Effects 0.000 claims abstract description 41
- 210000004027 cell Anatomy 0.000 claims description 204
- 230000001594 aberrant effect Effects 0.000 claims description 85
- 239000000523 sample Substances 0.000 claims description 82
- 108091032973 (ribonucleotides)n+m Proteins 0.000 claims description 52
- MNOMBFWMICHMKG-MGYWSNOQSA-N [(2s,3s,4e,6s,7r,10r)-7,10-dihydroxy-2-[(2e,4e,6r)-6-hydroxy-7-[(2r,3r)-3-[(2r,3s)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] 4-cycloheptylpiperazine-1-carboxylate Chemical compound CC[C@H](O)[C@@H](C)[C@H]1O[C@@H]1C[C@@](C)(O)\C=C\C=C(/C)[C@@H]1[C@@H](C)/C=C/[C@H](OC(=O)N2CCN(CC2)C2CCCCCC2)[C@](C)(O)CC[C@@H](O)CC(=O)O1 MNOMBFWMICHMKG-MGYWSNOQSA-N 0.000 claims description 48
- 150000001875 compounds Chemical class 0.000 claims description 42
- 230000014509 gene expression Effects 0.000 claims description 41
- 238000003556 assay Methods 0.000 claims description 27
- 150000007523 nucleic acids Chemical class 0.000 claims description 26
- 102000039446 nucleic acids Human genes 0.000 claims description 24
- 108020004707 nucleic acids Proteins 0.000 claims description 24
- 108010029485 Protein Isoforms Proteins 0.000 claims description 22
- 102000001708 Protein Isoforms Human genes 0.000 claims description 22
- 208000010839 B-cell chronic lymphocytic leukemia Diseases 0.000 claims description 20
- 208000031422 Lymphocytic Chronic B-Cell Leukemia Diseases 0.000 claims description 19
- 208000032852 chronic lymphocytic leukemia Diseases 0.000 claims description 19
- 238000012163 sequencing technique Methods 0.000 claims description 17
- 210000001519 tissue Anatomy 0.000 claims description 15
- 206010006187 Breast cancer Diseases 0.000 claims description 12
- 210000004369 blood Anatomy 0.000 claims description 12
- 239000008280 blood Substances 0.000 claims description 12
- 208000026310 Breast neoplasm Diseases 0.000 claims description 11
- SDOUORKJIJYJNW-QHOUZYGJSA-N [(2s,3s,4e,6s,7r,10r)-7,10-dihydroxy-2-[(2e,4e,6s)-7-[(2r,3r)-3-[(2r,3s)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] acetate Chemical compound CC[C@H](O)[C@@H](C)[C@H]1O[C@@H]1C[C@H](C)\C=C\C=C(/C)[C@@H]1[C@@H](C)/C=C/[C@H](OC(C)=O)[C@](C)(O)CC[C@@H](O)CC(=O)O1 SDOUORKJIJYJNW-QHOUZYGJSA-N 0.000 claims description 10
- 238000002493 microarray Methods 0.000 claims description 9
- 239000002105 nanoparticle Substances 0.000 claims description 9
- SDUSVHUQNWGNCQ-MLQHUJDKSA-N [(2s,3s,4e,6s,7r,10r)-7,10-dihydroxy-2-[(2e,4e,6r)-6-hydroxy-7-[(2r,3r)-3-[(2r,3s)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] acetate Chemical compound CC[C@H](O)[C@@H](C)[C@H]1O[C@@H]1C[C@@](C)(O)\C=C\C=C(/C)[C@@H]1[C@@H](C)/C=C/[C@H](OC(C)=O)[C@](C)(O)CC[C@@H](O)CC(=O)O1 SDUSVHUQNWGNCQ-MLQHUJDKSA-N 0.000 claims description 8
- 238000009739 binding Methods 0.000 claims description 8
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 8
- 108020004711 Nucleic Acid Probes Proteins 0.000 claims description 7
- 230000027455 binding Effects 0.000 claims description 7
- 239000002853 nucleic acid probe Substances 0.000 claims description 7
- 239000012472 biological sample Substances 0.000 claims description 6
- 238000001574 biopsy Methods 0.000 claims description 5
- 230000003247 decreasing effect Effects 0.000 claims description 5
- 239000007787 solid Substances 0.000 claims description 5
- 102000040650 (ribonucleotides)n+m Human genes 0.000 claims description 4
- 210000001185 bone marrow Anatomy 0.000 claims description 4
- 230000001965 increasing effect Effects 0.000 claims description 4
- 239000013060 biological fluid Substances 0.000 claims description 3
- 201000005787 hematologic cancer Diseases 0.000 claims description 3
- 208000024200 hematopoietic and lymphoid system neoplasm Diseases 0.000 claims description 3
- 238000007901 in situ hybridization Methods 0.000 claims description 3
- 201000010893 malignant breast melanoma Diseases 0.000 claims description 3
- 238000003757 reverse transcription PCR Methods 0.000 claims description 3
- 150000003384 small molecules Chemical class 0.000 claims description 3
- 208000024891 symptom Diseases 0.000 claims description 3
- 108091023037 Aptamer Proteins 0.000 claims description 2
- 230000000692 anti-sense effect Effects 0.000 claims description 2
- 238000004113 cell culture Methods 0.000 claims description 2
- 208000035475 disorder Diseases 0.000 claims description 2
- 230000002496 gastric effect Effects 0.000 claims description 2
- 210000005260 human cell Anatomy 0.000 claims description 2
- 230000001613 neoplastic effect Effects 0.000 claims description 2
- 210000000056 organ Anatomy 0.000 claims description 2
- 108090000765 processed proteins & peptides Proteins 0.000 claims description 2
- 210000002700 urine Anatomy 0.000 claims description 2
- 238000001921 nucleic acid quantification Methods 0.000 claims 1
- 108090000623 proteins and genes Proteins 0.000 description 33
- 230000000694 effects Effects 0.000 description 28
- 238000011282 treatment Methods 0.000 description 28
- 238000005516 engineering process Methods 0.000 description 23
- 238000001514 detection method Methods 0.000 description 22
- 108700028369 Alleles Proteins 0.000 description 19
- 238000004458 analytical method Methods 0.000 description 19
- 108020004999 messenger RNA Proteins 0.000 description 18
- 238000011529 RT qPCR Methods 0.000 description 17
- 239000004055 small Interfering RNA Substances 0.000 description 17
- 108091027967 Small hairpin RNA Proteins 0.000 description 16
- 239000002773 nucleotide Substances 0.000 description 15
- 125000003729 nucleotide group Chemical group 0.000 description 15
- 102000004169 proteins and genes Human genes 0.000 description 15
- 241000699670 Mus sp. Species 0.000 description 10
- 239000000872 buffer Substances 0.000 description 10
- 238000006243 chemical reaction Methods 0.000 description 10
- 238000000338 in vitro Methods 0.000 description 10
- 108020005067 RNA Splice Sites Proteins 0.000 description 9
- 239000000284 extract Substances 0.000 description 9
- 230000000171 quenching effect Effects 0.000 description 9
- 230000000259 anti-tumor effect Effects 0.000 description 8
- 239000003153 chemical reaction reagent Substances 0.000 description 8
- 239000000203 mixture Substances 0.000 description 8
- 239000013610 patient sample Substances 0.000 description 8
- 238000010791 quenching Methods 0.000 description 8
- PEDCQBHIVMGVHV-UHFFFAOYSA-N Glycerine Chemical compound OCC(O)CO PEDCQBHIVMGVHV-UHFFFAOYSA-N 0.000 description 6
- 241001465754 Metazoa Species 0.000 description 6
- 230000008859 change Effects 0.000 description 6
- 230000003828 downregulation Effects 0.000 description 6
- 201000001441 melanoma Diseases 0.000 description 6
- YBYRMVIVWMBXKQ-UHFFFAOYSA-N phenylmethanesulfonyl fluoride Chemical compound FS(=O)(=O)CC1=CC=CC=C1 YBYRMVIVWMBXKQ-UHFFFAOYSA-N 0.000 description 6
- 238000001262 western blot Methods 0.000 description 6
- 102100039950 Eukaryotic initiation factor 4A-I Human genes 0.000 description 5
- 101000959666 Homo sapiens Eukaryotic initiation factor 4A-I Proteins 0.000 description 5
- 101000818588 Homo sapiens Palmitoyltransferase ZDHHC16 Proteins 0.000 description 5
- 102100021132 Palmitoyltransferase ZDHHC16 Human genes 0.000 description 5
- 238000010606 normalization Methods 0.000 description 5
- 239000013612 plasmid Substances 0.000 description 5
- 230000014891 regulation of alternative nuclear mRNA splicing, via spliceosome Effects 0.000 description 5
- 230000001105 regulatory effect Effects 0.000 description 5
- 230000002441 reversible effect Effects 0.000 description 5
- 102100037458 Dephospho-CoA kinase Human genes 0.000 description 4
- 241000283074 Equus asinus Species 0.000 description 4
- 101000952691 Homo sapiens Dephospho-CoA kinase Proteins 0.000 description 4
- 206010058467 Lung neoplasm malignant Diseases 0.000 description 4
- 102100040420 Mitochondrial thiamine pyrophosphate carrier Human genes 0.000 description 4
- 108091006423 SLC25A19 Proteins 0.000 description 4
- 230000004075 alteration Effects 0.000 description 4
- 239000011324 bead Substances 0.000 description 4
- 238000005119 centrifugation Methods 0.000 description 4
- 239000002299 complementary DNA Substances 0.000 description 4
- 201000010099 disease Diseases 0.000 description 4
- 238000001727 in vivo Methods 0.000 description 4
- 201000005202 lung cancer Diseases 0.000 description 4
- 208000020816 lung neoplasm Diseases 0.000 description 4
- 229930014626 natural product Natural products 0.000 description 4
- 239000000047 product Substances 0.000 description 4
- 239000006228 supernatant Substances 0.000 description 4
- SGKRLCUYIXIAHR-AKNGSSGZSA-N (4s,4ar,5s,5ar,6r,12ar)-4-(dimethylamino)-1,5,10,11,12a-pentahydroxy-6-methyl-3,12-dioxo-4a,5,5a,6-tetrahydro-4h-tetracene-2-carboxamide Chemical compound C1=CC=C2[C@H](C)[C@@H]([C@H](O)[C@@H]3[C@](C(O)=C(C(N)=O)C(=O)[C@H]3N(C)C)(O)C3=O)C3=C(O)C2=C1O SGKRLCUYIXIAHR-AKNGSSGZSA-N 0.000 description 3
- JKMHFZQWWAIEOD-UHFFFAOYSA-N 2-[4-(2-hydroxyethyl)piperazin-1-yl]ethanesulfonic acid Chemical compound OCC[NH+]1CCN(CCS([O-])(=O)=O)CC1 JKMHFZQWWAIEOD-UHFFFAOYSA-N 0.000 description 3
- IAZDPXIOMUYVGZ-UHFFFAOYSA-N Dimethylsulphoxide Chemical compound CS(C)=O IAZDPXIOMUYVGZ-UHFFFAOYSA-N 0.000 description 3
- 108700024394 Exon Proteins 0.000 description 3
- WSFSSNUMVMOOMR-UHFFFAOYSA-N Formaldehyde Chemical compound O=C WSFSSNUMVMOOMR-UHFFFAOYSA-N 0.000 description 3
- 239000007995 HEPES buffer Substances 0.000 description 3
- 108091028043 Nucleic acid sequence Proteins 0.000 description 3
- 206010060862 Prostate cancer Diseases 0.000 description 3
- 208000000236 Prostatic Neoplasms Diseases 0.000 description 3
- 108010039259 RNA Splicing Factors Proteins 0.000 description 3
- 102000015097 RNA Splicing Factors Human genes 0.000 description 3
- 238000003559 RNA-seq method Methods 0.000 description 3
- 230000015572 biosynthetic process Effects 0.000 description 3
- 230000000903 blocking effect Effects 0.000 description 3
- 210000000481 breast Anatomy 0.000 description 3
- 230000005757 colony formation Effects 0.000 description 3
- 238000010586 diagram Methods 0.000 description 3
- 229960003722 doxycycline Drugs 0.000 description 3
- 230000005714 functional activity Effects 0.000 description 3
- PCHJSUWPFVWCPO-UHFFFAOYSA-N gold Chemical compound [Au] PCHJSUWPFVWCPO-UHFFFAOYSA-N 0.000 description 3
- 239000010931 gold Substances 0.000 description 3
- 229910052737 gold Inorganic materials 0.000 description 3
- 238000003384 imaging method Methods 0.000 description 3
- 239000003112 inhibitor Substances 0.000 description 3
- 230000005764 inhibitory process Effects 0.000 description 3
- 239000012528 membrane Substances 0.000 description 3
- 238000007481 next generation sequencing Methods 0.000 description 3
- 230000036961 partial effect Effects 0.000 description 3
- 230000008569 process Effects 0.000 description 3
- 238000011002 quantification Methods 0.000 description 3
- 210000003491 skin Anatomy 0.000 description 3
- 238000002415 sodium dodecyl sulfate polyacrylamide gel electrophoresis Methods 0.000 description 3
- 238000003786 synthesis reaction Methods 0.000 description 3
- 238000012360 testing method Methods 0.000 description 3
- YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 description 2
- 208000031261 Acute myeloid leukaemia Diseases 0.000 description 2
- 206010052747 Adenocarcinoma pancreas Diseases 0.000 description 2
- 206010009944 Colon cancer Diseases 0.000 description 2
- 108020004414 DNA Proteins 0.000 description 2
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 2
- LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 2
- 101710088172 HTH-type transcriptional regulator RipA Proteins 0.000 description 2
- 101000713585 Homo sapiens Tubulin beta-4A chain Proteins 0.000 description 2
- 241000701044 Human gammaherpesvirus 4 Species 0.000 description 2
- 108091027974 Mature messenger RNA Proteins 0.000 description 2
- 206010027480 Metastatic malignant melanoma Diseases 0.000 description 2
- 208000033776 Myeloid Acute Leukemia Diseases 0.000 description 2
- 208000033833 Myelomonocytic Chronic Leukemia Diseases 0.000 description 2
- DRBBFCLWYRJSJZ-UHFFFAOYSA-N N-phosphocreatine Chemical compound OC(=O)CN(C)C(=N)NP(O)(O)=O DRBBFCLWYRJSJZ-UHFFFAOYSA-N 0.000 description 2
- 239000000020 Nitrocellulose Substances 0.000 description 2
- 206010035226 Plasma cell myeloma Diseases 0.000 description 2
- 238000011579 SCID mouse model Methods 0.000 description 2
- 238000012300 Sequence Analysis Methods 0.000 description 2
- 239000006180 TBST buffer Substances 0.000 description 2
- 108091046869 Telomeric non-coding RNA Proteins 0.000 description 2
- 102100036788 Tubulin beta-4A chain Human genes 0.000 description 2
- 241000700605 Viruses Species 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 238000009825 accumulation Methods 0.000 description 2
- 230000002547 anomalous effect Effects 0.000 description 2
- 230000001413 cellular effect Effects 0.000 description 2
- 201000010902 chronic myelomonocytic leukemia Diseases 0.000 description 2
- 230000000295 complement effect Effects 0.000 description 2
- 210000004748 cultured cell Anatomy 0.000 description 2
- 230000007423 decrease Effects 0.000 description 2
- 239000010432 diamond Substances 0.000 description 2
- XPPKVPWEQAFLFU-UHFFFAOYSA-J diphosphate(4-) Chemical compound [O-]P([O-])(=O)OP([O-])([O-])=O XPPKVPWEQAFLFU-UHFFFAOYSA-J 0.000 description 2
- 235000011180 diphosphates Nutrition 0.000 description 2
- 229940079593 drug Drugs 0.000 description 2
- 239000003814 drug Substances 0.000 description 2
- 238000001914 filtration Methods 0.000 description 2
- 230000004927 fusion Effects 0.000 description 2
- 239000000499 gel Substances 0.000 description 2
- BRZYSWJRSDMWLG-CAXSIQPQSA-N geneticin Chemical compound O1C[C@@](O)(C)[C@H](NC)[C@@H](O)[C@H]1O[C@@H]1[C@@H](O)[C@H](O[C@@H]2[C@@H]([C@@H](O)[C@H](O)[C@@H](C(C)O)O2)N)[C@@H](N)C[C@H]1N BRZYSWJRSDMWLG-CAXSIQPQSA-N 0.000 description 2
- 238000009396 hybridization Methods 0.000 description 2
- 238000003119 immunoblot Methods 0.000 description 2
- 238000011065 in-situ storage Methods 0.000 description 2
- 238000010348 incorporation Methods 0.000 description 2
- 208000015181 infectious disease Diseases 0.000 description 2
- 238000001990 intravenous administration Methods 0.000 description 2
- 150000002500 ions Chemical class 0.000 description 2
- 210000000265 leukocyte Anatomy 0.000 description 2
- 210000004185 liver Anatomy 0.000 description 2
- 210000004072 lung Anatomy 0.000 description 2
- 210000001165 lymph node Anatomy 0.000 description 2
- 230000002934 lysing effect Effects 0.000 description 2
- 239000003120 macrolide antibiotic agent Substances 0.000 description 2
- 238000005259 measurement Methods 0.000 description 2
- 208000021039 metastatic melanoma Diseases 0.000 description 2
- 238000012544 monitoring process Methods 0.000 description 2
- 229920001220 nitrocellulos Polymers 0.000 description 2
- 230000002018 overexpression Effects 0.000 description 2
- 201000002094 pancreatic adenocarcinoma Diseases 0.000 description 2
- 239000008188 pellet Substances 0.000 description 2
- 239000000137 peptide hydrolase inhibitor Substances 0.000 description 2
- 238000011176 pooling Methods 0.000 description 2
- 238000011533 pre-incubation Methods 0.000 description 2
- 238000002360 preparation method Methods 0.000 description 2
- RXWNCPJZOCPEPQ-NVWDDTSBSA-N puromycin Chemical compound C1=CC(OC)=CC=C1C[C@H](N)C(=O)N[C@H]1[C@@H](O)[C@H](N2C3=NC=NC(=C3N=C2)N(C)C)O[C@@H]1CO RXWNCPJZOCPEPQ-NVWDDTSBSA-N 0.000 description 2
- 238000010814 radioimmunoprecipitation assay Methods 0.000 description 2
- 238000003753 real-time PCR Methods 0.000 description 2
- 230000000306 recurrent effect Effects 0.000 description 2
- 230000002829 reductive effect Effects 0.000 description 2
- 150000003839 salts Chemical class 0.000 description 2
- 238000012216 screening Methods 0.000 description 2
- 238000002741 site-directed mutagenesis Methods 0.000 description 2
- 208000002320 spinal muscular atrophy Diseases 0.000 description 2
- 210000001324 spliceosome Anatomy 0.000 description 2
- 239000000126 substance Substances 0.000 description 2
- 238000006467 substitution reaction Methods 0.000 description 2
- 239000000758 substrate Substances 0.000 description 2
- 239000000725 suspension Substances 0.000 description 2
- 230000002194 synthesizing effect Effects 0.000 description 2
- 238000006257 total synthesis reaction Methods 0.000 description 2
- 238000001890 transfection Methods 0.000 description 2
- 238000010200 validation analysis Methods 0.000 description 2
- 102100040881 60S acidic ribosomal protein P0 Human genes 0.000 description 1
- 208000024893 Acute lymphoblastic leukemia Diseases 0.000 description 1
- 208000014697 Acute lymphocytic leukaemia Diseases 0.000 description 1
- 206010000871 Acute monocytic leukaemia Diseases 0.000 description 1
- 208000010507 Adenocarcinoma of Lung Diseases 0.000 description 1
- 208000032791 BCR-ABL1 positive chronic myelogenous leukemia Diseases 0.000 description 1
- 206010005003 Bladder cancer Diseases 0.000 description 1
- 208000005623 Carcinogenesis Diseases 0.000 description 1
- 201000009030 Carcinoma Diseases 0.000 description 1
- 206010008342 Cervix carcinoma Diseases 0.000 description 1
- 208000010833 Chronic myeloid leukaemia Diseases 0.000 description 1
- 208000030808 Clear cell renal carcinoma Diseases 0.000 description 1
- 108091026890 Coding region Proteins 0.000 description 1
- 208000001333 Colorectal Neoplasms Diseases 0.000 description 1
- 108020004635 Complementary DNA Proteins 0.000 description 1
- 208000034656 Contusions Diseases 0.000 description 1
- 102000053602 DNA Human genes 0.000 description 1
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 1
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 1
- 102100030801 Elongation factor 1-alpha 1 Human genes 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 102100031181 Glyceraldehyde-3-phosphate dehydrogenase Human genes 0.000 description 1
- 229920000209 Hexadimethrine bromide Polymers 0.000 description 1
- 208000017604 Hodgkin disease Diseases 0.000 description 1
- 208000021519 Hodgkin lymphoma Diseases 0.000 description 1
- 208000010747 Hodgkins lymphoma Diseases 0.000 description 1
- 101000673456 Homo sapiens 60S acidic ribosomal protein P0 Proteins 0.000 description 1
- 101000920078 Homo sapiens Elongation factor 1-alpha 1 Proteins 0.000 description 1
- 101100095662 Homo sapiens SF3B1 gene Proteins 0.000 description 1
- 208000008839 Kidney Neoplasms Diseases 0.000 description 1
- 206010025323 Lymphomas Diseases 0.000 description 1
- 208000035489 Monocytic Acute Leukemia Diseases 0.000 description 1
- 208000034578 Multiple myelomas Diseases 0.000 description 1
- 201000003793 Myelodysplastic syndrome Diseases 0.000 description 1
- 208000033761 Myelogenous Chronic BCR-ABL Positive Leukemia Diseases 0.000 description 1
- 208000015914 Non-Hodgkin lymphomas Diseases 0.000 description 1
- 108091034117 Oligonucleotide Proteins 0.000 description 1
- 206010033128 Ovarian cancer Diseases 0.000 description 1
- 206010061535 Ovarian neoplasm Diseases 0.000 description 1
- 206010061902 Pancreatic neoplasm Diseases 0.000 description 1
- 206010033799 Paralysis Diseases 0.000 description 1
- 229940122907 Phosphatase inhibitor Drugs 0.000 description 1
- 102000004160 Phosphoric Monoester Hydrolases Human genes 0.000 description 1
- 108090000608 Phosphoric Monoester Hydrolases Proteins 0.000 description 1
- 208000006664 Precursor Cell Lymphoblastic Leukemia-Lymphoma Diseases 0.000 description 1
- 229940124158 Protease/peptidase inhibitor Drugs 0.000 description 1
- 108020003584 RNA Isoforms Proteins 0.000 description 1
- 208000035415 Reinfection Diseases 0.000 description 1
- 206010038389 Renal cancer Diseases 0.000 description 1
- 208000006265 Renal cell carcinoma Diseases 0.000 description 1
- 101710141795 Ribonuclease inhibitor Proteins 0.000 description 1
- 229940122208 Ribonuclease inhibitor Drugs 0.000 description 1
- 102100037968 Ribonuclease inhibitor Human genes 0.000 description 1
- 208000000453 Skin Neoplasms Diseases 0.000 description 1
- 241000593945 Streptomyces platensis Species 0.000 description 1
- 239000007984 Tris EDTA buffer Substances 0.000 description 1
- 229920004890 Triton X-100 Polymers 0.000 description 1
- 239000013504 Triton X-100 Substances 0.000 description 1
- 208000007097 Urinary Bladder Neoplasms Diseases 0.000 description 1
- 208000006105 Uterine Cervical Neoplasms Diseases 0.000 description 1
- 208000002495 Uterine Neoplasms Diseases 0.000 description 1
- PSLUFJFHTBIXMW-WYEYVKMPSA-N [(3r,4ar,5s,6s,6as,10s,10ar,10bs)-3-ethenyl-10,10b-dihydroxy-3,4a,7,7,10a-pentamethyl-1-oxo-6-(2-pyridin-2-ylethylcarbamoyloxy)-5,6,6a,8,9,10-hexahydro-2h-benzo[f]chromen-5-yl] acetate Chemical compound O([C@@H]1[C@@H]([C@]2(O[C@](C)(CC(=O)[C@]2(O)[C@@]2(C)[C@@H](O)CCC(C)(C)[C@@H]21)C=C)C)OC(=O)C)C(=O)NCCC1=CC=CC=N1 PSLUFJFHTBIXMW-WYEYVKMPSA-N 0.000 description 1
- 230000004913 activation Effects 0.000 description 1
- 239000013543 active substance Substances 0.000 description 1
- 208000009956 adenocarcinoma Diseases 0.000 description 1
- 208000037844 advanced solid tumor Diseases 0.000 description 1
- 238000007844 allele-specific PCR Methods 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 239000003242 anti bacterial agent Substances 0.000 description 1
- 230000000118 anti-neoplastic effect Effects 0.000 description 1
- 229940088710 antibiotic agent Drugs 0.000 description 1
- 239000002246 antineoplastic agent Substances 0.000 description 1
- 229940041181 antineoplastic drug Drugs 0.000 description 1
- 230000004596 appetite loss Effects 0.000 description 1
- 238000003491 array Methods 0.000 description 1
- 230000002238 attenuated effect Effects 0.000 description 1
- 210000003719 b-lymphocyte Anatomy 0.000 description 1
- 238000007622 bioinformatic analysis Methods 0.000 description 1
- 229960002685 biotin Drugs 0.000 description 1
- 235000020958 biotin Nutrition 0.000 description 1
- 239000011616 biotin Substances 0.000 description 1
- 238000004820 blood count Methods 0.000 description 1
- 230000037396 body weight Effects 0.000 description 1
- 238000010804 cDNA synthesis Methods 0.000 description 1
- 238000010805 cDNA synthesis kit Methods 0.000 description 1
- 230000036952 cancer formation Effects 0.000 description 1
- 231100000504 carcinogenesis Toxicity 0.000 description 1
- 230000004663 cell proliferation Effects 0.000 description 1
- 238000012054 celltiter-glo Methods 0.000 description 1
- 201000010881 cervical cancer Diseases 0.000 description 1
- 238000010367 cloning Methods 0.000 description 1
- 210000001072 colon Anatomy 0.000 description 1
- 208000029742 colonic neoplasm Diseases 0.000 description 1
- 238000010293 colony formation assay Methods 0.000 description 1
- 238000012875 competitive assay Methods 0.000 description 1
- ZXJXZNDDNMQXFV-UHFFFAOYSA-M crystal violet Chemical compound [Cl-].C1=CC(N(C)C)=CC=C1[C+](C=1C=CC(=CC=1)N(C)C)C1=CC=C(N(C)C)C=C1 ZXJXZNDDNMQXFV-UHFFFAOYSA-M 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 238000007865 diluting Methods 0.000 description 1
- 229940042399 direct acting antivirals protease inhibitors Drugs 0.000 description 1
- HALQELOKLVRWRI-VDBOFHIQSA-N doxycycline hyclate Chemical compound O.[Cl-].[Cl-].CCO.O=C1C2=C(O)C=CC=C2[C@H](C)[C@@H]2C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H]([NH+](C)C)[C@@H]1[C@H]2O.O=C1C2=C(O)C=CC=C2[C@H](C)[C@@H]2C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H]([NH+](C)C)[C@@H]1[C@H]2O HALQELOKLVRWRI-VDBOFHIQSA-N 0.000 description 1
- 229960001172 doxycycline hyclate Drugs 0.000 description 1
- 230000008482 dysregulation Effects 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 238000010195 expression analysis Methods 0.000 description 1
- 239000013613 expression plasmid Substances 0.000 description 1
- 238000000855 fermentation Methods 0.000 description 1
- 230000004151 fermentation Effects 0.000 description 1
- 229960001235 gentian violet Drugs 0.000 description 1
- 108020004445 glyceraldehyde-3-phosphate dehydrogenase Proteins 0.000 description 1
- 230000005802 health problem Effects 0.000 description 1
- 239000012145 high-salt buffer Substances 0.000 description 1
- 238000012165 high-throughput sequencing Methods 0.000 description 1
- 238000012296 in situ hybridization assay Methods 0.000 description 1
- 238000011534 incubation Methods 0.000 description 1
- 230000006698 induction Effects 0.000 description 1
- 230000001939 inductive effect Effects 0.000 description 1
- 238000002955 isolation Methods 0.000 description 1
- 201000010982 kidney cancer Diseases 0.000 description 1
- 208000032839 leukemia Diseases 0.000 description 1
- 201000007270 liver cancer Diseases 0.000 description 1
- 208000014018 liver neoplasm Diseases 0.000 description 1
- 235000021266 loss of appetite Nutrition 0.000 description 1
- 208000019017 loss of appetite Diseases 0.000 description 1
- 208000026535 luminal A breast carcinoma Diseases 0.000 description 1
- 238000004020 luminiscence type Methods 0.000 description 1
- 201000005249 lung adenocarcinoma Diseases 0.000 description 1
- 210000005265 lung cell Anatomy 0.000 description 1
- 210000004698 lymphocyte Anatomy 0.000 description 1
- 229940041033 macrolides Drugs 0.000 description 1
- 230000014759 maintenance of location Effects 0.000 description 1
- 208000015486 malignant pancreatic neoplasm Diseases 0.000 description 1
- 238000004519 manufacturing process Methods 0.000 description 1
- 238000004949 mass spectrometry Methods 0.000 description 1
- 238000001840 matrix-assisted laser desorption--ionisation time-of-flight mass spectrometry Methods 0.000 description 1
- 230000001404 mediated effect Effects 0.000 description 1
- 239000004005 microsphere Substances 0.000 description 1
- 230000009149 molecular binding Effects 0.000 description 1
- 201000000050 myeloid neoplasm Diseases 0.000 description 1
- 206010029410 night sweats Diseases 0.000 description 1
- 230000036565 night sweats Effects 0.000 description 1
- 230000009871 nonspecific binding Effects 0.000 description 1
- 238000007826 nucleic acid assay Methods 0.000 description 1
- 210000004940 nucleus Anatomy 0.000 description 1
- 238000011369 optimal treatment Methods 0.000 description 1
- 210000003463 organelle Anatomy 0.000 description 1
- 230000002611 ovarian Effects 0.000 description 1
- 201000002528 pancreatic cancer Diseases 0.000 description 1
- 208000008443 pancreatic carcinoma Diseases 0.000 description 1
- 210000005259 peripheral blood Anatomy 0.000 description 1
- 239000011886 peripheral blood Substances 0.000 description 1
- 230000003285 pharmacodynamic effect Effects 0.000 description 1
- 239000013641 positive control Substances 0.000 description 1
- 238000012805 post-processing Methods 0.000 description 1
- 230000003389 potentiating effect Effects 0.000 description 1
- 210000002307 prostate Anatomy 0.000 description 1
- 238000000746 purification Methods 0.000 description 1
- 229950010131 puromycin Drugs 0.000 description 1
- 238000012175 pyrosequencing Methods 0.000 description 1
- 238000003908 quality control method Methods 0.000 description 1
- 238000003762 quantitative reverse transcription PCR Methods 0.000 description 1
- 230000009467 reduction Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 239000003161 ribonuclease inhibitor Substances 0.000 description 1
- 230000036186 satiety Effects 0.000 description 1
- 235000019627 satiety Nutrition 0.000 description 1
- 238000005204 segregation Methods 0.000 description 1
- 239000004065 semiconductor Substances 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 238000002864 sequence alignment Methods 0.000 description 1
- 201000000849 skin cancer Diseases 0.000 description 1
- 210000004927 skin cell Anatomy 0.000 description 1
- 239000000243 solution Substances 0.000 description 1
- 210000000952 spleen Anatomy 0.000 description 1
- 230000037423 splicing regulation Effects 0.000 description 1
- 230000006641 stabilisation Effects 0.000 description 1
- 238000011105 stabilization Methods 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 239000012536 storage buffer Substances 0.000 description 1
- 238000007920 subcutaneous administration Methods 0.000 description 1
- 230000004083 survival effect Effects 0.000 description 1
- 230000009897 systematic effect Effects 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 230000001225 therapeutic effect Effects 0.000 description 1
- 238000013518 transcription Methods 0.000 description 1
- 230000035897 transcription Effects 0.000 description 1
- 230000001131 transforming effect Effects 0.000 description 1
- 238000003146 transient transfection Methods 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 230000003827 upregulation Effects 0.000 description 1
- 201000005112 urinary bladder cancer Diseases 0.000 description 1
- 206010046766 uterine cancer Diseases 0.000 description 1
- 239000003981 vehicle Substances 0.000 description 1
- 230000035899 viability Effects 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/55—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having seven-membered rings, e.g. azelastine, pentylenetetrazole
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
- A61K31/44—Non condensed pyridines; Hydrogenated derivatives thereof
- A61K31/445—Non condensed piperidines, e.g. piperocaine
- A61K31/4523—Non condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems
- A61K31/4545—Non condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems containing a six-membered ring with nitrogen as a ring hetero atom, e.g. pipamperone, anabasine
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P35/00—Antineoplastic agents
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/02—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving viable microorganisms
- C12Q1/025—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving viable microorganisms for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6841—In situ hybridisation
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Medicinal Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Epidemiology (AREA)
- Analytical Chemistry (AREA)
- Immunology (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Pathology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Molecular Biology (AREA)
- General Engineering & Computer Science (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Oncology (AREA)
- Hospice & Palliative Care (AREA)
- General Chemical & Material Sciences (AREA)
- Toxicology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Peptides Or Proteins (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201562212876P | 2015-09-01 | 2015-09-01 | |
| PCT/US2016/049490 WO2017040526A2 (en) | 2015-09-01 | 2016-08-30 | Splice variants associated with neomorphic sf3b1 mutants |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2887201T3 true ES2887201T3 (es) | 2021-12-22 |
Family
ID=56936518
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES16766420T Active ES2887201T3 (es) | 2015-09-01 | 2016-08-30 | Variantes de empalme asociadas con mutantes neomórficos de SF3B1 |
Country Status (5)
| Country | Link |
|---|---|
| US (2) | US10889866B2 (enExample) |
| EP (2) | EP3910073B1 (enExample) |
| JP (2) | JP6876680B2 (enExample) |
| ES (1) | ES2887201T3 (enExample) |
| WO (1) | WO2017040526A2 (enExample) |
Families Citing this family (15)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP3910073B1 (en) | 2015-09-01 | 2024-03-06 | Eisai R&D Management Co., Ltd. | Splice variants associated with neomorphic sf3b1 mutants |
| SG11201907887SA (en) * | 2017-03-15 | 2019-09-27 | Eisai Co Ltd | Spliceosome mutations and uses thereof |
| US12098172B2 (en) | 2017-07-31 | 2024-09-24 | The Johns Hopkins University | Compositions and methods for targeting MASAs to treat cancers with spliceosome mutations |
| JOP20200243A1 (ar) * | 2018-04-09 | 2020-09-29 | Eisai R&D Man Co Ltd | مركبات البلاديينوليد واستخداماتها |
| IL278740B2 (en) | 2018-06-01 | 2024-01-01 | Eisai R&D Man Co Ltd | Methods for using splicing modulators |
| IL262658A (en) * | 2018-10-28 | 2020-04-30 | Memorial Sloan Kettering Cancer Center | Prevention of age related clonal hematopoiesis and diseases associated therewith |
| JP6931860B2 (ja) * | 2019-02-08 | 2021-09-08 | 株式会社Zenick | mRNA前駆体の解析方法、情報処理装置、コンピュータプログラム |
| US20220073971A1 (en) * | 2019-02-08 | 2022-03-10 | Zenick Corporation | Method for analyzing mrna precursor, information processing apparatus, and computer program |
| WO2020264177A1 (en) * | 2019-06-26 | 2020-12-30 | Fred Hutchinson Cancer Research Center | Methods and compositions comprising brd9 activating therapies for treating cancers and related disorders |
| CN111518805A (zh) * | 2020-04-30 | 2020-08-11 | 北京航空航天大学 | 一种可用于抑制肿瘤增殖的非编码基因及其应用 |
| ES2891182A1 (es) * | 2020-07-14 | 2022-01-26 | Servicio Andaluz De Salud | Compuestos para el tratamiento del carcinoma hepatocelular |
| TW202233187A (zh) | 2020-11-04 | 2022-09-01 | 日商衛材R&D企管股份有限公司 | 骨髓發育不良症候群(mds)之生物標記物及其使用方法 |
| CN116507334A (zh) * | 2020-11-04 | 2023-07-28 | 卫材R&D管理有限公司 | 骨髓增生异常综合征(mds)的生物标记物及其使用方法 |
| WO2023131866A1 (en) | 2022-01-05 | 2023-07-13 | Eisai R&D Management Co., Ltd. | Biomarkers for myelodysplastic syndrome (mds) and methods of using the same |
| WO2023209074A1 (en) * | 2022-04-28 | 2023-11-02 | Institut National de la Santé et de la Recherche Médicale | Methods of restoring erythropoiesis in patients suffering from a sf3b1 mutant myelodysplastic syndrome by correcting coasy mis-splicing |
Family Cites Families (24)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6372431B1 (en) * | 1999-11-19 | 2002-04-16 | Incyte Genomics, Inc. | Mammalian toxicological response markers |
| CN1178973C (zh) | 2000-02-18 | 2004-12-08 | 甘瑟尔股份有限公司 | 官能化聚亚烷基亚胺的制备方法,含有它们的组合物及其应用 |
| US6436703B1 (en) * | 2000-03-31 | 2002-08-20 | Hyseq, Inc. | Nucleic acids and polypeptides |
| TWI312681B (en) | 2001-02-01 | 2009-08-01 | Novel physiologically active substance | |
| US7473767B2 (en) | 2001-07-03 | 2009-01-06 | The Institute For Systems Biology | Methods for detection and quantification of analytes in complex mixtures |
| US20070015271A1 (en) * | 2002-04-04 | 2007-01-18 | Rosen Craig A | Human secreted proteins |
| TWI334866B (en) | 2002-05-29 | 2010-12-21 | Mercian Corp | Novel physiologically active substances |
| US7576204B2 (en) | 2002-07-31 | 2009-08-18 | Mercian Corporation | Heterocyclic macrolide pharmaceutical agent, a method of producing the same and use of the same |
| JP4328293B2 (ja) | 2002-07-31 | 2009-09-09 | メルシャン株式会社 | 新規生理活性物質 |
| EP1580278A4 (en) | 2002-11-29 | 2010-08-25 | Mercian Corp | METHOD FOR PRODUCING A MAKROLIDE COMPOUND |
| KR20060110865A (ko) | 2003-11-27 | 2006-10-25 | 에자이 가부시키가이샤 | 매크로라이드계 화합물의 수산화에 관여하는 dna |
| JP4599357B2 (ja) | 2004-07-20 | 2010-12-15 | エーザイ・アール・アンド・ディー・マネジメント株式会社 | プラジエノライドの生合成に関与するポリペプチドをコードするdna |
| JPWO2007043621A1 (ja) | 2005-10-13 | 2009-04-16 | エーザイ・アール・アンド・ディー・マネジメント株式会社 | プラジエノライドb及びプラジエノライドdの全合成方法 |
| US20100021918A1 (en) * | 2007-03-05 | 2010-01-28 | Eisai R&D Management Co., Ltd. | Method for assaying action of antitumor agent using splicing defects as index |
| US20080312317A1 (en) | 2007-04-12 | 2008-12-18 | Eisai R&D Management Co., Ltd. | 12 membered-ring macrolactam derivatives |
| ES2614810T3 (es) | 2008-08-14 | 2017-06-02 | Nanostring Technologies, Inc | Nanoindicadores estables |
| WO2011129427A1 (ja) * | 2010-04-16 | 2011-10-20 | 第一三共株式会社 | 癌の診断剤および治療剤 |
| EP2776830B1 (en) | 2011-11-08 | 2018-05-09 | Genomic Health, Inc. | Method of predicting breast cancer prognosis |
| WO2013086464A1 (en) * | 2011-12-07 | 2013-06-13 | The Broad Institute, Inc. | Markers associated with chronic lymphocytic leukemia prognosis and progression |
| JP6057408B2 (ja) | 2012-03-05 | 2017-01-11 | 国立大学法人 千葉大学 | 癌の予防剤および/または治療剤 |
| US20140275010A1 (en) | 2013-03-12 | 2014-09-18 | Guo Zhu Zheng | Quaternary salts |
| WO2014165753A1 (en) | 2013-04-05 | 2014-10-09 | The Wistar Institute Of Anatomy And Biology | Methods and compositions for diagnosis of glioblastoma or a subtype thereof |
| PL3143016T3 (pl) | 2014-05-15 | 2019-04-30 | Eisai R&D Man Co Ltd | Związki i sposoby zastosowania pladienolidu pirydyny |
| EP3910073B1 (en) | 2015-09-01 | 2024-03-06 | Eisai R&D Management Co., Ltd. | Splice variants associated with neomorphic sf3b1 mutants |
-
2016
- 2016-08-30 EP EP21174658.1A patent/EP3910073B1/en active Active
- 2016-08-30 JP JP2018510109A patent/JP6876680B2/ja active Active
- 2016-08-30 ES ES16766420T patent/ES2887201T3/es active Active
- 2016-08-30 US US15/755,225 patent/US10889866B2/en active Active
- 2016-08-30 WO PCT/US2016/049490 patent/WO2017040526A2/en not_active Ceased
- 2016-08-30 EP EP16766420.0A patent/EP3344780B1/en active Active
-
2020
- 2020-11-16 US US17/098,940 patent/US11761045B2/en active Active
-
2021
- 2021-04-26 JP JP2021074145A patent/JP7256840B2/ja active Active
Also Published As
| Publication number | Publication date |
|---|---|
| WO2017040526A3 (en) | 2017-04-20 |
| EP3344780A2 (en) | 2018-07-11 |
| EP3910073B1 (en) | 2024-03-06 |
| JP7256840B2 (ja) | 2023-04-12 |
| US10889866B2 (en) | 2021-01-12 |
| US20210130909A1 (en) | 2021-05-06 |
| EP3910073A1 (en) | 2021-11-17 |
| JP6876680B2 (ja) | 2021-05-26 |
| EP3344780B1 (en) | 2021-06-23 |
| WO2017040526A2 (en) | 2017-03-09 |
| JP2021106615A (ja) | 2021-07-29 |
| JP2018525994A (ja) | 2018-09-13 |
| US20180318312A1 (en) | 2018-11-08 |
| US11761045B2 (en) | 2023-09-19 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| ES2887201T3 (es) | Variantes de empalme asociadas con mutantes neomórficos de SF3B1 | |
| Hovestadt et al. | Medulloblastomics revisited: biological and clinical insights from thousands of patients | |
| Ma et al. | USP1 inhibition destabilizes KPNA2 and suppresses breast cancer metastasis | |
| Seiler et al. | H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers | |
| Cui et al. | Small nucleolar noncoding RNA SNORA23, up-regulated in human pancreatic ductal adenocarcinoma, regulates expression of spectrin repeat-containing nuclear envelope 2 to promote growth and metastasis of xenograft tumors in mice | |
| US20220205045A1 (en) | Raf1 fusions | |
| ES2609414T3 (es) | Alteraciones genéticas en la citrato deshidrogenasa y otros genes en gliomas malignos | |
| ES2688693T3 (es) | MicroARN plasmáticos para la detección de cáncer colorrectal incipiente | |
| JP7037836B2 (ja) | タンパク質キナーゼ阻害剤に対する感受性予測用バイオマーカー及びその用途 | |
| ES2731653T3 (es) | Métodos y usos para predecir la respuesta a la eribulina | |
| ES2861316T3 (es) | Métodos para pronosticar cáncer de próstata | |
| Kolberg et al. | Protein expression of BIRC5, TK1, and TOP2A in malignant peripheral nerve sheath tumours–A prognostic test after surgical resection | |
| Yu et al. | METTL3 promotes colorectal cancer metastasis by stabilizing PLAU mRNA in an m6A-dependent manner | |
| Liu et al. | Super-enhancer driven SOX2 promotes tumor formation by chromatin re-organization in nasopharyngeal carcinoma | |
| CN109423517A (zh) | 外泌体在肿瘤诊断、治疗和预后评估中的用途 | |
| CN115807082B (zh) | lncRNA LINREP在胶质瘤诊断、预后和治疗中的应用 | |
| Liu et al. | CircJPH1 regulates the NF-κB/HERC5 axis to promote the malignant progression of esophageal squamous cell carcinoma through binding to XRCC6 | |
| HK40063437B (en) | Splice variants associated with neomorphic sf3b1 mutants | |
| US20220073910A1 (en) | A Cross-Linking Approach to Map Small Molecule-RNA Binding Sites in Cells | |
| HK40063437A (en) | Splice variants associated with neomorphic sf3b1 mutants | |
| KR102099684B1 (ko) | 항암제에 대한 감수성 예측용 바이오 마커 및 이의 용도 | |
| KR20220088910A (ko) | 치료 및 진단 표적으로서의 hla-h, hla-j, hla-l, hla-v 및 hla-y | |
| KR101370108B1 (ko) | 위암 진단용 마커로서 hdac2의 용도 | |
| Kaestner | Targeting NSD2 in Hematologic Malignancies | |
| Ma et al. | Innovation in CRC Research: Targeting SPACA6P‐AS for Progression |