Ellen Welch - Related publications

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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Nguyen K, Wang Y, England WE, Chaput JC, Spitale RC. Allele-Specific RNA Knockdown with a Biologically Stable and Catalytically Efficient XNAzyme. Journal of the American Chemical Society. PMID 33750115 DOI: 10.1021/jacs.0c11353   
2021 Tsai YL, Manley JL. Multiple ways to a dead end: diverse mechanisms by which ALS mutant genes induce cell death. Cell Cycle (Georgetown, Tex.). 1-16. PMID 33722167 DOI: 10.1080/15384101.2021.1886661   
2021 Cao Q, Zhao C, Wang C, Cai L, Xia M, Zhang X, Han J, Xu Y, Zhang J, Ling X, Ma X, Huo R. The Recurrent Mutation in PATL2 Inhibits Its Degradation Thus Causing Female Infertility Characterized by Oocyte Maturation Defect Through Regulation of the Mos-MAPK Pathway. Frontiers in Cell and Developmental Biology. 9: 628649. PMID 33614659 DOI: 10.3389/fcell.2021.628649   
2021 Niu X, Menhart N. Structural Perturbations of Exon-Skipping Edits within the Dystrophin D20:24 Region. Biochemistry. PMID 33656846 DOI: 10.1021/acs.biochem.0c00827   
2021 Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, et al. Germline SAMD9L truncation variants trigger global translational repression. The Journal of Experimental Medicine. 218. PMID 33724365 DOI: 10.1084/jem.20201195   
2021 Aslan C, Kiaie SH, Zolbanin NM, Lotfinejad P, Ramezani R, Kashanchi F, Jafari R. Exosomes for mRNA delivery: a novel biotherapeutic strategy with hurdles and hope. Bmc Biotechnology. 21: 20. PMID 33691652 DOI: 10.1186/s12896-021-00683-w   
2021 Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E. Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of Variants. Cancers. 13. PMID 33673681 DOI: 10.3390/cancers13050999   
2021 Wood KA, Eadsforth MA, Newman WG, O'Keefe RT. The Role of the U5 snRNP in Genetic Disorders and Cancer. Frontiers in Genetics. 12: 636620. PMID 33584830 DOI: 10.3389/fgene.2021.636620   
2021 Doenier J, Lynch T, Kimble J, Aoki ST. An improved in vivo tethering assay with single molecule FISH reveals that a nematode Nanos enhances reporter expression and mRNA stability. Rna (New York, N.Y.). PMID 33727224 DOI: 10.1261/rna.078693.121   
2021 Elorza A, Márquez Y, Cabrera JR, Sánchez-Trincado JL, Santos-Galindo M, Hernández IH, Picó S, Díaz-Hernández JI, García-Escudero R, Irimia M, Lucas JJ. Huntington's disease-specific mis-splicing unveils key effector genes and altered splicing factors. Brain : a Journal of Neurology. PMID 33725094 DOI: 10.1093/brain/awab087   
2021 Castelli LM, Huang WP, Lin YH, Chang KY, Hautbergue GM. Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders. Biochemical Society Transactions. PMID 33729487 DOI: 10.1042/BST20200690   
2021 Rathner A, Rathner P, Friedrich A, Wießner M, Kitzler CM, Schernthaner J, Karl T, Krauß J, Lottspeich F, Mewes W, Hintner H, Bauer JW, Breitenbach M, Müller N, Breitenbach-Koller H, et al. Drug Development for Target Ribosomal Protein rpL35/uL29 for Repair of LAMB3R635X in Rare Skin Disease Epidermolysis Bullosa. Skin Pharmacology and Physiology. 1-16. PMID 33823521 DOI: 10.1159/000513260   
2021 Qian X, Wang J, Wang M, Igelman AD, Jones KD, Li Y, Wang K, Goetz KE, Birch DG, Yang P, Pennesi ME, Chen R. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Frontiers in Genetics. 12: 647400. PMID 33737949 DOI: 10.3389/fgene.2021.647400   
2021 Ha J, Jang H, Choi N, Oh J, Min C, Pradella D, Jung DW, Williams DR, Park D, Ghigna C, Zheng X, Shen H. SRSF9 Regulates Cassette Exon Splicing of Caspase-2 by Interacting with Its Downstream Exon. Cells. 10. PMID 33808656 DOI: 10.3390/cells10030679   
2021 Wang J, Wang C, Li L, Yang L, Wang S, Ning X, Gao S, Ren L, Chaulagain A, Tang J, Wang T. Alternative splicing: An important regulatory mechanism in colorectal carcinoma. Molecular Carcinogenesis. PMID 33629774 DOI: 10.1002/mc.23291   
2021 Canbezdi C, Tarin M, Houy A, Bellanger D, Popova T, Stern MH, Roman-Roman S, Alsafadi S. Functional and conformational impact of cancer-associated mutations depends on the position and the charge of amino acid substitution. Computational and Structural Biotechnology Journal. 19: 1361-1370. PMID 33777335 DOI: 10.1016/j.csbj.2021.02.012   
2021 Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, ... , et al. Risdiplam in Type 1 Spinal Muscular Atrophy. The New England Journal of Medicine. PMID 33626251 DOI: 10.1056/NEJMoa2009965   
2021 Fernández-Fernández R, Hernández SB, Puerta-Fernández E, Sánchez-Romero MA, Urdaneta V, Casadesús J. Evidence for Involvement of the Z-Ring Assembly Factors ZapA and ZapB in Resistance to Bile. Frontiers in Microbiology. 12: 647305. PMID 33717045 DOI: 10.3389/fmicb.2021.647305   
2021 Fernández-Fernández R, Hernández SB, Puerta-Fernández E, Sánchez-Romero MA, Urdaneta V, Casadesús J. Evidence for Involvement of the Z-Ring Assembly Factors ZapA and ZapB in Resistance to Bile. Frontiers in Microbiology. 12: 647305. PMID 33717045 DOI: 10.3389/fmicb.2021.647305   
2021 Lee PJ, Yang S, Sun Y, Guo JU. Regulation of nonsense-nediated mRNA decay in neural development and disease. Journal of Molecular Cell Biology. PMID 33783512 DOI: 10.1093/jmcb/mjab022   
2021 Axford J, Sung MJ, Manchester J, Chin D, Jain M, Shin Y, Dix I, Hamann LG, Cheung AK, Sivasankaran R, Briner K, Dales NA, Hurley B. Use of Intramolecular 1,5-Sulfur-Oxygen and 1,5-Sulfur-Halogen Interactions in the Design of -Methyl-5-aryl--(2,2,6,6-tetramethylpiperidin-4-yl)-1,3,4-thiadiazol-2-amine SMN2 Splicing Modulators. Journal of Medicinal Chemistry. PMID 33822618 DOI: 10.1021/acs.jmedchem.0c02173   
2021 Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics : Ejhg. PMID 33824466 DOI: 10.1038/s41431-021-00832-x   
2021 Kimberlin A, Holtsclaw RE, Koo AJ. Differential Regulation of the Ribosomal Association of mRNA Transcripts in an Mutant Defective in Jasmonate-Dependent Wound Response. Frontiers in Plant Science. 12: 637959. PMID 33777072 DOI: 10.3389/fpls.2021.637959   
2021 Madan V, Cao Z, Teoh WW, Dakle P, Han L, Shyamsunder P, Jeitany M, Zhou S, Li J, Nordin HBM, Shi J, Yu S, Yang H, Hossain MZ, Chng WJ, et al. ZRSR1 cooperates with ZRSR2 in regulating splicing of U12-type introns in murine hematopoietic cells. Haematologica. PMID 33691379 DOI: 10.3324/haematol.2020.260562   
2021 Simpson E, Chen S, Reiter JL, Liu Y. Differential Splicing of Skipped-exons Predicts Drug Response in Cancer Cell Lines. Genomics, Proteomics & Bioinformatics. PMID 33662622 DOI: 10.1016/j.gpb.2019.08.003   
2021 Kim JH, Rahman MH, Park D, Jo M, Kim HJ, Suk K. Identification of Genetic Modifiers of TDP-43: Inflammatory Activation of Astrocytes for Neuroinflammation. Cells. 10. PMID 33803845 DOI: 10.3390/cells10030676   
2021 Quiroz RV, Reutershan MH, Schneider SE, Sloman D, Lacey BM, Swalm BM, Yeung CS, Gibeau C, Spellman DS, Rankic DA, Chen D, Witter D, Linn D, Munsell E, Feng G, et al. The Discovery of Two Novel Classes of 5,5-Bicyclic Nucleoside-Derived PRMT5 Inhibitors for the Treatment of Cancer. Journal of Medicinal Chemistry. PMID 33755451 DOI: 10.1021/acs.jmedchem.0c02083   
2021 Chatrikhi R, Feeney CF, Pulvino MJ, Alachouzos G, MacRae AJ, Falls Z, Rai S, Brennessel WW, Jenkins JL, Walter MJ, Graubert TA, Samudrala R, Jurica MS, Frontier AJ, Kielkopf CL. A synthetic small molecule stalls pre-mRNA splicing by promoting an early-stage U2AF2-RNA complex. Cell Chemical Biology. PMID 33689684 DOI: 10.1016/j.chembiol.2021.02.007   
2021 Gaikwad S, Ghobakhlou F, Young DJ, Visweswaraiah J, Zhang H, Hinnebusch AG. Reprogramming of translation in yeast cells impaired for ribosome recycling favors short, efficiently translated mRNAs. Elife. 10. PMID 33764298 DOI: 10.7554/eLife.64283   
2021 Goktas S, Azizoglu ZB, Petersheim D, Erdogan M, Eke Gungor H, Bisgin A, Tuğ Bozdoğan S, Eken A, Unal E, Klein C, Patiroglu T. A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia. Journal of Pediatric Hematology/Oncology. PMID 33560082 DOI: 10.1097/MPH.0000000000002071   
2021 Wu B, Wang Z, Lin N, Yan X, Lv Z, Ying Z, Ye Z. A panel of eight mRNA signatures improves prognosis prediction of osteosarcoma patients. Medicine. 100: e24118. PMID 33832059 DOI: 10.1097/MD.0000000000024118   
2021 Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics. 64: 104182. PMID 33639314 DOI: 10.1016/j.ejmg.2021.104182   
2021 Ogawa S, Shimidzu H, Fukuda K, Tsunekawa N, Hirano T, Sato F, Yura K, Hasunuma T, Ochi K, Yamamoto M, Sakamoto W, Hashimoto K, Ogata H, Kanao T, Nemoto M, et al. Multiple mutations in RNA polymerase β-subunit gene (rpoB) in Streptomyces incarnatus NRRL8089 enhance production of antiviral antibiotic sinefungin: modeling rif cluster region by density functional theory. Bioscience, Biotechnology, and Biochemistry. PMID 33710298 DOI: 10.1093/bbb/zbab011   
2021 Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Medicine. 13: 31. PMID 33618777 DOI: 10.1186/s13073-021-00835-9   
2021 McDougall LI, Powell RM, Ratajska M, Lynch-Sutherland CF, Hossain SM, Wiggins GAR, Harazin-Lechowska A, Cybulska-Stopa B, Motwani J, Macaulay EC, Reid G, Walker LC, Ryś J, Eccles MR. Differential Expression of Isoforms in Melanoma. Genes. 12. PMID 33672422 DOI: 10.3390/genes12020320   
2021 Ma N, Zhu Z, Liu J, Peng Y, Zhao X, Tang W, Jia Z, Xi H, Gao B, Wang H, Du J. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2. Molecular Genetics & Genomic Medicine. e1632. PMID 33834621 DOI: 10.1002/mgg3.1632   
2021 Hua Y, Song J, Peng C, Wang R, Ma Z, Zhang J, Zhang Z, Li N, Hou L. Advances in the Relationship Between Regulator of Ribosome Synthesis 1 (RRS1) and Diseases. Frontiers in Cell and Developmental Biology. 9: 620925. PMID 33718361 DOI: 10.3389/fcell.2021.620925   
2021 Zhang D, Chen C, Wang H, Niu E, Zhao P, Fang S, Zhu G, Shang X, Guo W. Cotton Fiber Development Requires the Pentatricopeptide Repeat Protein GhIm for Splicing of Mitochondrial nad7 mRNA. Genetics. 217: 1-17. PMID 33683356 DOI: 10.1093/genetics/iyaa017   
2021 Zheng M, Chen X, Cui Y, Li W, Dai H, Yue Q, Zhang H, Zheng Y, Guo X, Zhu H. TULP2, a New RNA-Binding Protein, Is Required for Mouse Spermatid Differentiation and Male Fertility. Frontiers in Cell and Developmental Biology. 9: 623738. PMID 33763418 DOI: 10.3389/fcell.2021.623738   
2021 Chao Y, Jiang Y, Zhong M, Wei K, Hu C, Qin Y, Zuo Y, Yang L, Shen Z, Zou C. Regulatory roles and mechanisms of alternative RNA splicing in adipogenesis and human metabolic health. Cell & Bioscience. 11: 66. PMID 33795017 DOI: 10.1186/s13578-021-00581-w   
2021 Gerashchenko MV, Gladyshev VN. Measuring Organ-Specific Translation Elongation Rate in Mice. Methods in Molecular Biology (Clifton, N.J.). 2252: 189-200. PMID 33765276 DOI: 10.1007/978-1-0716-1150-0_8   
2021 Inoue D, Polaski JT, Taylor J, Castel P, Chen S, Kobayashi S, Hogg SJ, Hayashi Y, Pineda JMB, El Marabti E, Erickson C, Knorr K, Fukumoto M, Yamazaki H, Tanaka A, et al. Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition. Nature Genetics. PMID 33846634 DOI: 10.1038/s41588-021-00828-9   
2021 Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome. Nature Medicine. PMID 33707773 DOI: 10.1038/s41591-021-01274-0   
2021 Cieśla M, Ngoc PCT, Cordero E, Martinez ÁS, Morsing M, Muthukumar S, Beneventi G, Madej M, Munita R, Jönsson T, Lövgren K, Ebbesson A, Nodin B, Hedenfalk I, Jirström K, et al. Oncogenic translation directs spliceosome dynamics revealing an integral role for SF3A3 in breast cancer. Molecular Cell. PMID 33662273 DOI: 10.1016/j.molcel.2021.01.034   
2021 Liu B, Zhao S, Yan Z, Zhao L, Lin J, Wang S, Niu Y, Li X, Qiu G, , Zhang TJ, Wu Z, Wu N. Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism. Frontiers in Cell and Developmental Biology. 9: 641133. PMID 33816491 DOI: 10.3389/fcell.2021.641133   
2021 Torrado M, Fernández G, Ganoza CA, Maneiro E, García D, Sonicheva-Paterson N, Rosa I, Ochoa JP, Santomé L, Vasichkina E, Monserrat L. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome. Npj Genomic Medicine. 6: 21. PMID 33664273 DOI: 10.1038/s41525-021-00183-y   
2021 Zhang Y, Wu X, Li J, Sun K, Li H, Yan L, Duan C, Liu H, Chen K, Ye Z, Liu M, Xu H. Comprehensive characterization of alternative splicing in renal cell carcinoma. Briefings in Bioinformatics. PMID 33822848 DOI: 10.1093/bib/bbab084   
2021 Lucchesi C, Mohibi S, Chen X. Measuring Translation Efficiency by RNA Immunoprecipitation of Translation Initiation Factors. Methods in Molecular Biology (Clifton, N.J.). 2267: 73-79. PMID 33786785 DOI: 10.1007/978-1-0716-1217-0_5   
2021 Puttaraju M, Jackson M, Klein S, Shilo A, Bennett CF, Gordon L, Rigo F, Misteli T. Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome. Nature Medicine. PMID 33707772 DOI: 10.1038/s41591-021-01262-4   
2021 Zhang W, Liu Y, Min Chin J, K L Phua K. Sustained release of PKR inhibitor C16 from mesoporous silica nanoparticles significantly enhances mRNA translation and anti-tumor vaccination. European Journal of Pharmaceutics and Biopharmaceutics : Official Journal of Arbeitsgemeinschaft Fur Pharmazeutische Verfahrenstechnik E.V. PMID 33771622 DOI: 10.1016/j.ejpb.2021.03.011