Artículos de revistas sobre el tema "Transcript variants"
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Ouyang, Hongjia, Jiao Yu, Xiaolan Chen, Zhijun Wang y Qinghua Nie. "A novel transcript of MEF2D promotes myoblast differentiation and its variations associated with growth traits in chicken". PeerJ 8 (4 de febrero de 2020): e8351. http://dx.doi.org/10.7717/peerj.8351.
Texto completoAhmed Elnour, Abdalla Abdelrahman y Mahdi H. A. Abdalla. "P210 and P190 BCR-ABL fusion transcripts variants frequencies among Philadelphia chromosome-positive chronic myeloid leukemia in Sudan". International Journal of Biomedical Research 9, n.º 5 (29 de mayo de 2018): 172. http://dx.doi.org/10.7439/ijbr.v9i5.4736.
Texto completoMorales, Joannella, Shashikant Pujar, Jane E. Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox et al. "A joint NCBI and EMBL-EBI transcript set for clinical genomics and research". Nature 604, n.º 7905 (6 de abril de 2022): 310–15. http://dx.doi.org/10.1038/s41586-022-04558-8.
Texto completoCook, Taylor W., Amy M. Wilstermann, Jackson T. Mitchell, Nicholas E. Arnold, Surender Rajasekaran, Caleb P. Bupp y Jeremy W. Prokop. "Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics". Biomolecules 13, n.º 2 (30 de enero de 2023): 257. http://dx.doi.org/10.3390/biom13020257.
Texto completoRosa, Villegas-Ruíz, Caballero-Palacios, Pérez-López, Murata, Zapata-Tarres, Cárdenas-Cardos, Paredes-Aguilera, Rivera-Luna y Juárez-Méndez. "Expression of ZNF695 Transcript Variants in Childhood B-Cell Acute Lymphoblastic Leukemia". Genes 10, n.º 9 (16 de septiembre de 2019): 716. http://dx.doi.org/10.3390/genes10090716.
Texto completoValenzuela-Palomo, Alberto, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya y Eladio A. Velasco-Sampedro. "Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants". Cancers 14, n.º 18 (19 de septiembre de 2022): 4541. http://dx.doi.org/10.3390/cancers14184541.
Texto completoJohn, Miya y Caroline E. Ford. "Pan-Tissue and -Cancer Analysis of ROR1 and ROR2 Transcript Variants Identify Novel Functional Significance for an Alternative Splice Variant of ROR1". Biomedicines 10, n.º 10 (13 de octubre de 2022): 2559. http://dx.doi.org/10.3390/biomedicines10102559.
Texto completoGermeshausen, Manuela, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte y Christoph Klein. "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations". Blood 111, n.º 10 (15 de mayo de 2008): 4954–57. http://dx.doi.org/10.1182/blood-2007-11-120667.
Texto completoBueno-Martínez, Elena, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen et al. "RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants". Cancers 13, n.º 11 (7 de junio de 2021): 2845. http://dx.doi.org/10.3390/cancers13112845.
Texto completoDe la Cruz-Hernández, Erick, Alejandro García-Carrancá, Alejandro Mohar-Betancourt, Alfonso Dueñas-González, Adriana Contreras-Paredes, Enrique Pérez-Cardenas, Roberto Herrera-Goepfert y Marcela Lizano-Soberón. "Differential splicing of E6 within human papillomavirus type 18 variants and functional consequences". Journal of General Virology 86, n.º 9 (1 de septiembre de 2005): 2459–68. http://dx.doi.org/10.1099/vir.0.80945-0.
Texto completoGelli, Elisa, Mara Colombo, Anna Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni et al. "Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance". Cancers 11, n.º 3 (1 de marzo de 2019): 295. http://dx.doi.org/10.3390/cancers11030295.
Texto completoAl-Qahtani, Wedad, Mai Abduljabbar, Entissar AlSuhaibani, Anas Abdel Rahman y Ahmad Aljada. "Quantification of the Lamin A/C Transcript Variants in Cancer Cell Lines by Targeted Absolute Quantitative Proteomics and Correlation with mRNA Expression". International Journal of Molecular Sciences 20, n.º 8 (17 de abril de 2019): 1902. http://dx.doi.org/10.3390/ijms20081902.
Texto completoHong, Jinyoung, Ji Hyun Kim, Se Hee Ahn, Hyunjung Gu, Suhwan Chang, Woochang Lee, Dae-Yeon Kim, Sail Chun y Won-Ki Min. "Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning". Genes 12, n.º 6 (26 de mayo de 2021): 810. http://dx.doi.org/10.3390/genes12060810.
Texto completoHarris, Rebecca Louise, Carmen Wilma van den Berg y Derrick John Bowen. "ASGR1 and ASGR2, the Genes that Encode the Asialoglycoprotein Receptor (Ashwell Receptor), Are Expressed in Peripheral Blood Monocytes and Show Interindividual Differences in Transcript Profile". Molecular Biology International 2012 (2 de agosto de 2012): 1–10. http://dx.doi.org/10.1155/2012/283974.
Texto completoChin, Diana, Matthew A. Kutny, Jonathan Grim, Robert B. Gerbing, Kristen Miller, Jason E. Farrar, Jaime M. Guidry Auvil et al. "Comprehensive Genomic and Transcript Profiling of CBL Gene in Childhood AML: A Report from Children's Oncology Group Studies AAML03P1, AAML0531 and COG/NCI Target AML Initiative". Blood 126, n.º 23 (3 de diciembre de 2015): 170. http://dx.doi.org/10.1182/blood.v126.23.170.170.
Texto completoChioda, Mariacristina, Fabio Spada, Ragnhild Eskeland y Eric M. Thompson. "Histone mRNAs Do Not Accumulate during S Phase of either Mitotic or Endoreduplicative Cycles in the Chordate Oikopleura dioica". Molecular and Cellular Biology 24, n.º 12 (15 de junio de 2004): 5391–403. http://dx.doi.org/10.1128/mcb.24.12.5391-5403.2004.
Texto completoAmin, Huma y Suhaib Ahmed. "Characteristics of BCR–ABL gene variants in patients of chronic myeloid leukemia". Open Medicine 16, n.º 1 (1 de enero de 2021): 904–12. http://dx.doi.org/10.1515/med-2021-0309.
Texto completoPark, Joohyun, Annemarie Reilaender, Jan N. Petry-Schmelzer, Petra Stöbe, Isabell Cordts, Florian Harmuth, Maren Rautenberg et al. "Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia". Neurology Genetics 8, n.º 1 (7 de diciembre de 2021): e644. http://dx.doi.org/10.1212/nxg.0000000000000644.
Texto completoPalma, Marzia, Parviz Kokhaei, Lotta Hansson, Mohammad Hojat-Farsangi, Aniruddha Raja Choudhury, Anders Osterborg y Håkan Mellstedt. "Expression of Human Telomerase Reverse Transcriptase (hTERT) Splice Variants In Chronic Lymphocytic Leukemia (CLL)". Blood 116, n.º 21 (19 de noviembre de 2010): 2413. http://dx.doi.org/10.1182/blood.v116.21.2413.2413.
Texto completoMancini, F., G. Conza y F. Moretti. "MDM4 (MDMX) and its Transcript Variants". Current Genomics 10, n.º 1 (1 de marzo de 2009): 42–50. http://dx.doi.org/10.2174/138920209787581280.
Texto completoLai, John, Jiyuan An, Srilakshmi Srinivasan, Judith A. Clements y Jyotsna Batra. "A computational analysis of the genetic and transcript diversity at the kallikrein locus". Biological Chemistry 397, n.º 12 (1 de diciembre de 2016): 1307–13. http://dx.doi.org/10.1515/hsz-2016-0161.
Texto completoDeynichenko, K. A., K. G. Ptitsyn, S. P. Radko, L. K. Kurbatov, I. V. Vakhrushev, I. V. Buromski, S. S. Markin, A. I. Archakov, A. V. Lisitsa y E. A. Ponomarenko. "Splice variants of mRNA of cytochrome P450 genes: analysis by the nanopore sequencing method in human liver tissue and HepG2 cell line". Biomeditsinskaya Khimiya 68, n.º 2 (2022): 117–25. http://dx.doi.org/10.18097/pbmc20226802117.
Texto completode Bruijn, Suzanne E., Sanne K. Verbakel, Erik de Vrieze, Hannie Kremer, Frans P. M. Cremers, Carel B. Hoyng, L. Ingeborgh van den Born y Susanne Roosing. "Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa". Journal of Medical Genetics 55, n.º 10 (17 de agosto de 2018): 705–12. http://dx.doi.org/10.1136/jmedgenet-2018-105364.
Texto completoSong, Tongxing, Jie Peng, Jiao Ren, Hong-kui Wei y Jian Peng. "Cloning and Characterization of Spliced Variants of the Porcine G Protein Coupled Receptor 120". BioMed Research International 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/813816.
Texto completoHartmann, Katherine, Michał Seweryn y Wolfgang Sadee. "Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance". PLOS ONE 17, n.º 2 (22 de febrero de 2022): e0244904. http://dx.doi.org/10.1371/journal.pone.0244904.
Texto completoGermain, Claire, Franck Bihl, Stefan Zahn, Gwenola Poupon, Marie-Jeanne Dumaurier, Hariniaina Henintsoa Rampanarivo, Søren Berg Padkjær, Pieter Spee y Veronique M. Braud. "Characterization of Alternatively Spliced Transcript Variants ofCLEC2DGene". Journal of Biological Chemistry 285, n.º 46 (14 de septiembre de 2010): 36207–15. http://dx.doi.org/10.1074/jbc.m110.179622.
Texto completoJaved, Zaineb, Dong-Hui Shin, Weihua Pan, Amal Taher Elhaw, Priscilla Tang, Rebecca Phaeton, Mohamed Trebak, Vonn Walter y Nadine Hempel. "Abstract 3781: Expression of ovarian cancer specific Drp1 splice variants regulate mitochondrial heterogeneity and cell plasticity during tumor progression". Cancer Research 82, n.º 12_Supplement (15 de junio de 2022): 3781. http://dx.doi.org/10.1158/1538-7445.am2022-3781.
Texto completoShamsani, Jannah, Stephen H. Kazakoff, Irina M. Armean, Will McLaren, Michael T. Parsons, Bryony A. Thompson, Tracy A. O’Mara, Sarah E. Hunt, Nicola Waddell y Amanda B. Spurdle. "A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity". Bioinformatics 35, n.º 13 (23 de noviembre de 2018): 2315–17. http://dx.doi.org/10.1093/bioinformatics/bty960.
Texto completoYuda, Junichiro, Toshihiro Miyamoto, Jun Odawara, Yoshikane Kikushige, Yasuyuki Ohkawa y Koichi Akashi. "Persistence of Abnormally-Spliced, Functionally-Dead BCR-ABL Variants Is a Critical Obstacle to Achieve Sustained Complete Molecular Response in CML Patients: Results of a Quantitative, Highly-Sensitive, Deep Sequencing Study". Blood 124, n.º 21 (6 de diciembre de 2014): 4525. http://dx.doi.org/10.1182/blood.v124.21.4525.4525.
Texto completoDoll, Julia, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli et al. "Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients". International Journal of Molecular Sciences 21, n.º 1 (2 de enero de 2020): 311. http://dx.doi.org/10.3390/ijms21010311.
Texto completoFrojmark, Anne-Sophie, Jitendra Badhai, Edward J. Davey y Niklas Dahl. "Diamond Blackfan Anemia: An RPS19 Transcript Variant Specifically Interacts with Nuclear Proteins." Blood 106, n.º 11 (16 de noviembre de 2005): 1032. http://dx.doi.org/10.1182/blood.v106.11.1032.1032.
Texto completoDemars, Julie, Nathalie Iannuccelli, Valerio Utzeri, Gerard Auvinet, Juliette Riquet, Luca Fontanesi y Daniel Allain. "New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits". Genes 9, n.º 9 (23 de agosto de 2018): 430. http://dx.doi.org/10.3390/genes9090430.
Texto completoLoraine, Ann E., Gregg A. Helt, Melissa S. Cline y Michael A. Siani-Rose. "Exploring Alternative Transcript Structure in the Human Genome Using BLOCKS and InterPro". Journal of Bioinformatics and Computational Biology 01, n.º 02 (julio de 2003): 289–306. http://dx.doi.org/10.1142/s0219720003000113.
Texto completoLee, Ja-Rang, Young-Hyun Kim, Sang-Je Park, Se-Hee Choe, Hyeon-Mu Cho, Sang-Rae Lee, Sun-Uk Kim et al. "Identification of Alternative Variants and Insertion of the Novel PolymorphicAluYl17inTSEN54Gene during Primate Evolution". International Journal of Genomics 2016 (2016): 1–10. http://dx.doi.org/10.1155/2016/1679574.
Texto completoZhou, Xiaopu, Yu Chen, Kin Y. Mok, Qianhua Zhao, Keliang Chen, Yuewen Chen, John Hardy et al. "Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis". Proceedings of the National Academy of Sciences 115, n.º 8 (5 de febrero de 2018): 1697–706. http://dx.doi.org/10.1073/pnas.1715554115.
Texto completoCron, Randy Q., Grant S. Schulert, Mingce Zhang, Ammar Husami, Ndate Fall, Hermine Brunner, Kejian Zhang y Alexei A. Grom. "Novel UNC13D intronic variant disrupting a NF κB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis". Journal of Immunology 200, n.º 1_Supplement (1 de mayo de 2018): 45.21. http://dx.doi.org/10.4049/jimmunol.200.supp.45.21.
Texto completoGorbenko, A. S., M. A. Stolyar, E. V. Vasiliev, M. A. Mikhalev, V. I. Bakhtina, T. I. Olkhovik, E. E. Mochalova, K. E. Orlova y I. A. Olkhovskiy. "Use of the «BCR/ABL – multitest» kit in the algorithm of laboratory diagnostics of oncohematological diseases: economic aspects". Russian Clinical Laboratory Diagnostics 66, n.º 9 (10 de septiembre de 2021): 571–76. http://dx.doi.org/10.51620/0869-2084-2021-66-9-571-576.
Texto completoErho, Nicholas, Christine Buerki, Timothy J. Triche, Elai Davicioni y Ismael A. Vergara. "Transcriptome-Wide Detection of Differentially Expressed Coding and Non-Coding Transcripts and Their Clinical Significance in Prostate Cancer". Journal of Oncology 2012 (2012): 1–11. http://dx.doi.org/10.1155/2012/541353.
Texto completoBosco, Luca, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico y Fabiana Fattori. "Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy". International Journal of Molecular Sciences 23, n.º 18 (7 de septiembre de 2022): 10274. http://dx.doi.org/10.3390/ijms231810274.
Texto completoPoncet, Anaïs F., Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet et al. "Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants". International Journal of Molecular Sciences 23, n.º 8 (13 de abril de 2022): 4294. http://dx.doi.org/10.3390/ijms23084294.
Texto completoMason, Cayla, Frida Holm, Eva Hellqvist, Christian Barrett, Kelly A. Frazer, Anil Sadarangani y Catriona HM Jamieson. "The Role Of CD44 Isoform Expression In Niche Resident Chronic Myeloid Leukemia Stem Cell Evolution". Blood 122, n.º 21 (15 de noviembre de 2013): 4028. http://dx.doi.org/10.1182/blood.v122.21.4028.4028.
Texto completoŚcieżyńska, Aneta, Marta Soszyńska, Michał Komorowski, Anna Podgórska, Natalia Krześniak, Aleksandra Nogowska, Martyna Smolińska et al. "Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles". International Journal of Molecular Sciences 21, n.º 10 (13 de mayo de 2020): 3430. http://dx.doi.org/10.3390/ijms21103430.
Texto completoD'Agata, Velia y Sebastiano Cavallaro. "Parkin Transcript Variants in Rat and Human Brain". Neurochemical Research 29, n.º 9 (septiembre de 2004): 1715–24. http://dx.doi.org/10.1023/b:nere.0000035807.25370.5e.
Texto completoKoks, Sulev, Abigail L. Pfaff, Vivien J. Bubb y John P. Quinn. "Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes". Genes 12, n.º 3 (15 de marzo de 2021): 423. http://dx.doi.org/10.3390/genes12030423.
Texto completoAlfieri, Mariaevelina, Anna Li Santi, Luigia Meo, Valentina Giudice, Carmine Selleri y Pia Ragno. "Identification of uPAR Variants Acting as ceRNAs in Leukaemia Cells". Cancers 14, n.º 8 (14 de abril de 2022): 1980. http://dx.doi.org/10.3390/cancers14081980.
Texto completoPogosova-Agadjanyan, Era L., Hana Lee, Crystal K. Cummings, Soheil Meshinchi, Jerald P. Radich y Derek L. Stirewalt. "Methylation Regulates Expression of Novel Splice Variant and Wild Type Transcripts of IRF8." Blood 116, n.º 21 (19 de noviembre de 2010): 3634. http://dx.doi.org/10.1182/blood.v116.21.3634.3634.
Texto completoDmytrenko, O. O., I. V. Dmytrenko, Zh M. Minchenko y I. S. Diahil. "АЛЕЛЬНИЙ ПОЛІМОРФІЗМ СИСТЕМИ HLA У ХВОРИХ НА ХРОНІЧНУ МІЄЛОЇДНУ ЛЕЙКЕМІЮ З е13а2 та е14а2 ТРАНСКРИПТАМИ ГЕНА BCR/ABL1". Scientific Issue Ternopil Volodymyr Hnatiuk National Pedagogical University. Series: Biology 76, n.º 2 (26 de julio de 2019): 53–57. http://dx.doi.org/10.25128/2078-2357.19.2.9.
Texto completoJanecke, Andreas R., Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass et al. "Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects". Human Genetics 140, n.º 8 (11 de mayo de 2021): 1143–56. http://dx.doi.org/10.1007/s00439-021-02284-1.
Texto completoVillegas-Ruíz, Vanessa, Antonio Romo-Mancillas, Isabel Medina-Vera, Kattia Alejandra Castro-López, Josselene Carina Ramirez-Chiquito, Marco Antonio Fonseca-Montaño, Mercedes Edna García-Cruz, Roberto Rivera-Luna, Julieta Griselda Mendoza-Torreblanca y Sergio Juárez-Méndez. "The Proliferating Cell Nuclear Antigen (PCNA) Transcript Variants as Potential Relapse Markers in B-Cell Acute Lymphoblastic Leukemia". Cells 11, n.º 20 (12 de octubre de 2022): 3205. http://dx.doi.org/10.3390/cells11203205.
Texto completoBowles, Bradley, Karl Clark y Eric Klee. "95233 Analysis of 5'UTR Variation in Rare Disease Patients Reveals Variants of Potential Disease Relevance". Journal of Clinical and Translational Science 5, s1 (marzo de 2021): 101. http://dx.doi.org/10.1017/cts.2021.659.
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