Статті в журналах з теми "Transcript variants"
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Ознайомтеся з топ-50 статей у журналах для дослідження на тему "Transcript variants".
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Ouyang, Hongjia, Jiao Yu, Xiaolan Chen, Zhijun Wang, and Qinghua Nie. "A novel transcript of MEF2D promotes myoblast differentiation and its variations associated with growth traits in chicken." PeerJ 8 (February 4, 2020): e8351. http://dx.doi.org/10.7717/peerj.8351.
Повний текст джерелаAhmed Elnour, Abdalla Abdelrahman, and 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, no. 5 (May 29, 2018): 172. http://dx.doi.org/10.7439/ijbr.v9i5.4736.
Повний текст джерелаMorales, 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, no. 7905 (April 6, 2022): 310–15. http://dx.doi.org/10.1038/s41586-022-04558-8.
Повний текст джерелаCook, Taylor W., Amy M. Wilstermann, Jackson T. Mitchell, Nicholas E. Arnold, Surender Rajasekaran, Caleb P. Bupp, and Jeremy W. Prokop. "Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics." Biomolecules 13, no. 2 (January 30, 2023): 257. http://dx.doi.org/10.3390/biom13020257.
Повний текст джерелаRosa, Villegas-Ruíz, Caballero-Palacios, Pérez-López, Murata, Zapata-Tarres, Cárdenas-Cardos, Paredes-Aguilera, Rivera-Luna, and Juárez-Méndez. "Expression of ZNF695 Transcript Variants in Childhood B-Cell Acute Lymphoblastic Leukemia." Genes 10, no. 9 (September 16, 2019): 716. http://dx.doi.org/10.3390/genes10090716.
Повний текст джерелаValenzuela-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, and Eladio A. Velasco-Sampedro. "Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants." Cancers 14, no. 18 (September 19, 2022): 4541. http://dx.doi.org/10.3390/cancers14184541.
Повний текст джерелаJohn, Miya, and 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, no. 10 (October 13, 2022): 2559. http://dx.doi.org/10.3390/biomedicines10102559.
Повний текст джерелаGermeshausen, Manuela, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte, and Christoph Klein. "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations." Blood 111, no. 10 (May 15, 2008): 4954–57. http://dx.doi.org/10.1182/blood-2007-11-120667.
Повний текст джерелаBueno-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, no. 11 (June 7, 2021): 2845. http://dx.doi.org/10.3390/cancers13112845.
Повний текст джерелаDe la Cruz-Hernández, Erick, Alejandro García-Carrancá, Alejandro Mohar-Betancourt, Alfonso Dueñas-González, Adriana Contreras-Paredes, Enrique Pérez-Cardenas, Roberto Herrera-Goepfert, and Marcela Lizano-Soberón. "Differential splicing of E6 within human papillomavirus type 18 variants and functional consequences." Journal of General Virology 86, no. 9 (September 1, 2005): 2459–68. http://dx.doi.org/10.1099/vir.0.80945-0.
Повний текст джерелаGelli, 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, no. 3 (March 1, 2019): 295. http://dx.doi.org/10.3390/cancers11030295.
Повний текст джерелаAl-Qahtani, Wedad, Mai Abduljabbar, Entissar AlSuhaibani, Anas Abdel Rahman, and 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, no. 8 (April 17, 2019): 1902. http://dx.doi.org/10.3390/ijms20081902.
Повний текст джерелаHong, Jinyoung, Ji Hyun Kim, Se Hee Ahn, Hyunjung Gu, Suhwan Chang, Woochang Lee, Dae-Yeon Kim, Sail Chun, and Won-Ki Min. "Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning." Genes 12, no. 6 (May 26, 2021): 810. http://dx.doi.org/10.3390/genes12060810.
Повний текст джерелаHarris, Rebecca Louise, Carmen Wilma van den Berg, and 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 (August 2, 2012): 1–10. http://dx.doi.org/10.1155/2012/283974.
Повний текст джерелаChin, 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, no. 23 (December 3, 2015): 170. http://dx.doi.org/10.1182/blood.v126.23.170.170.
Повний текст джерелаChioda, Mariacristina, Fabio Spada, Ragnhild Eskeland, and 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, no. 12 (June 15, 2004): 5391–403. http://dx.doi.org/10.1128/mcb.24.12.5391-5403.2004.
Повний текст джерелаAmin, Huma, and Suhaib Ahmed. "Characteristics of BCR–ABL gene variants in patients of chronic myeloid leukemia." Open Medicine 16, no. 1 (January 1, 2021): 904–12. http://dx.doi.org/10.1515/med-2021-0309.
Повний текст джерелаPark, 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, no. 1 (December 7, 2021): e644. http://dx.doi.org/10.1212/nxg.0000000000000644.
Повний текст джерелаPalma, Marzia, Parviz Kokhaei, Lotta Hansson, Mohammad Hojat-Farsangi, Aniruddha Raja Choudhury, Anders Osterborg, and Håkan Mellstedt. "Expression of Human Telomerase Reverse Transcriptase (hTERT) Splice Variants In Chronic Lymphocytic Leukemia (CLL)." Blood 116, no. 21 (November 19, 2010): 2413. http://dx.doi.org/10.1182/blood.v116.21.2413.2413.
Повний текст джерелаMancini, F., G. Conza, and F. Moretti. "MDM4 (MDMX) and its Transcript Variants." Current Genomics 10, no. 1 (March 1, 2009): 42–50. http://dx.doi.org/10.2174/138920209787581280.
Повний текст джерелаLai, John, Jiyuan An, Srilakshmi Srinivasan, Judith A. Clements, and Jyotsna Batra. "A computational analysis of the genetic and transcript diversity at the kallikrein locus." Biological Chemistry 397, no. 12 (December 1, 2016): 1307–13. http://dx.doi.org/10.1515/hsz-2016-0161.
Повний текст джерелаDeynichenko, 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, and 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, no. 2 (2022): 117–25. http://dx.doi.org/10.18097/pbmc20226802117.
Повний текст джерелаde Bruijn, Suzanne E., Sanne K. Verbakel, Erik de Vrieze, Hannie Kremer, Frans P. M. Cremers, Carel B. Hoyng, L. Ingeborgh van den Born, and Susanne Roosing. "Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa." Journal of Medical Genetics 55, no. 10 (August 17, 2018): 705–12. http://dx.doi.org/10.1136/jmedgenet-2018-105364.
Повний текст джерелаSong, Tongxing, Jie Peng, Jiao Ren, Hong-kui Wei, and 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.
Повний текст джерелаHartmann, Katherine, Michał Seweryn, and Wolfgang Sadee. "Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance." PLOS ONE 17, no. 2 (February 22, 2022): e0244904. http://dx.doi.org/10.1371/journal.pone.0244904.
Повний текст джерелаGermain, Claire, Franck Bihl, Stefan Zahn, Gwenola Poupon, Marie-Jeanne Dumaurier, Hariniaina Henintsoa Rampanarivo, Søren Berg Padkjær, Pieter Spee, and Veronique M. Braud. "Characterization of Alternatively Spliced Transcript Variants ofCLEC2DGene." Journal of Biological Chemistry 285, no. 46 (September 14, 2010): 36207–15. http://dx.doi.org/10.1074/jbc.m110.179622.
Повний текст джерелаJaved, Zaineb, Dong-Hui Shin, Weihua Pan, Amal Taher Elhaw, Priscilla Tang, Rebecca Phaeton, Mohamed Trebak, Vonn Walter, and Nadine Hempel. "Abstract 3781: Expression of ovarian cancer specific Drp1 splice variants regulate mitochondrial heterogeneity and cell plasticity during tumor progression." Cancer Research 82, no. 12_Supplement (June 15, 2022): 3781. http://dx.doi.org/10.1158/1538-7445.am2022-3781.
Повний текст джерелаShamsani, Jannah, Stephen H. Kazakoff, Irina M. Armean, Will McLaren, Michael T. Parsons, Bryony A. Thompson, Tracy A. O’Mara, Sarah E. Hunt, Nicola Waddell, and Amanda B. Spurdle. "A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity." Bioinformatics 35, no. 13 (November 23, 2018): 2315–17. http://dx.doi.org/10.1093/bioinformatics/bty960.
Повний текст джерелаYuda, Junichiro, Toshihiro Miyamoto, Jun Odawara, Yoshikane Kikushige, Yasuyuki Ohkawa, and 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, no. 21 (December 6, 2014): 4525. http://dx.doi.org/10.1182/blood.v124.21.4525.4525.
Повний текст джерелаDoll, 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, no. 1 (January 2, 2020): 311. http://dx.doi.org/10.3390/ijms21010311.
Повний текст джерелаFrojmark, Anne-Sophie, Jitendra Badhai, Edward J. Davey, and Niklas Dahl. "Diamond Blackfan Anemia: An RPS19 Transcript Variant Specifically Interacts with Nuclear Proteins." Blood 106, no. 11 (November 16, 2005): 1032. http://dx.doi.org/10.1182/blood.v106.11.1032.1032.
Повний текст джерелаDemars, Julie, Nathalie Iannuccelli, Valerio Utzeri, Gerard Auvinet, Juliette Riquet, Luca Fontanesi, and Daniel Allain. "New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits." Genes 9, no. 9 (August 23, 2018): 430. http://dx.doi.org/10.3390/genes9090430.
Повний текст джерелаLoraine, Ann E., Gregg A. Helt, Melissa S. Cline, and Michael A. Siani-Rose. "Exploring Alternative Transcript Structure in the Human Genome Using BLOCKS and InterPro." Journal of Bioinformatics and Computational Biology 01, no. 02 (July 2003): 289–306. http://dx.doi.org/10.1142/s0219720003000113.
Повний текст джерелаLee, 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.
Повний текст джерелаZhou, 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, no. 8 (February 5, 2018): 1697–706. http://dx.doi.org/10.1073/pnas.1715554115.
Повний текст джерелаCron, Randy Q., Grant S. Schulert, Mingce Zhang, Ammar Husami, Ndate Fall, Hermine Brunner, Kejian Zhang та 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, № 1_Supplement (1 травня 2018): 45.21. http://dx.doi.org/10.4049/jimmunol.200.supp.45.21.
Повний текст джерелаGorbenko, A. S., M. A. Stolyar, E. V. Vasiliev, M. A. Mikhalev, V. I. Bakhtina, T. I. Olkhovik, E. E. Mochalova, K. E. Orlova, and 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, no. 9 (September 10, 2021): 571–76. http://dx.doi.org/10.51620/0869-2084-2021-66-9-571-576.
Повний текст джерелаErho, Nicholas, Christine Buerki, Timothy J. Triche, Elai Davicioni, and 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.
Повний текст джерелаBosco, Luca, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, and Fabiana Fattori. "Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy." International Journal of Molecular Sciences 23, no. 18 (September 7, 2022): 10274. http://dx.doi.org/10.3390/ijms231810274.
Повний текст джерелаPoncet, 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, no. 8 (April 13, 2022): 4294. http://dx.doi.org/10.3390/ijms23084294.
Повний текст джерелаMason, Cayla, Frida Holm, Eva Hellqvist, Christian Barrett, Kelly A. Frazer, Anil Sadarangani, and Catriona HM Jamieson. "The Role Of CD44 Isoform Expression In Niche Resident Chronic Myeloid Leukemia Stem Cell Evolution." Blood 122, no. 21 (November 15, 2013): 4028. http://dx.doi.org/10.1182/blood.v122.21.4028.4028.
Повний текст джерелаŚcieżyńska, 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, no. 10 (May 13, 2020): 3430. http://dx.doi.org/10.3390/ijms21103430.
Повний текст джерелаD'Agata, Velia, and Sebastiano Cavallaro. "Parkin Transcript Variants in Rat and Human Brain." Neurochemical Research 29, no. 9 (September 2004): 1715–24. http://dx.doi.org/10.1023/b:nere.0000035807.25370.5e.
Повний текст джерелаKoks, Sulev, Abigail L. Pfaff, Vivien J. Bubb, and John P. Quinn. "Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes." Genes 12, no. 3 (March 15, 2021): 423. http://dx.doi.org/10.3390/genes12030423.
Повний текст джерелаAlfieri, Mariaevelina, Anna Li Santi, Luigia Meo, Valentina Giudice, Carmine Selleri, and Pia Ragno. "Identification of uPAR Variants Acting as ceRNAs in Leukaemia Cells." Cancers 14, no. 8 (April 14, 2022): 1980. http://dx.doi.org/10.3390/cancers14081980.
Повний текст джерелаPogosova-Agadjanyan, Era L., Hana Lee, Crystal K. Cummings, Soheil Meshinchi, Jerald P. Radich, and Derek L. Stirewalt. "Methylation Regulates Expression of Novel Splice Variant and Wild Type Transcripts of IRF8." Blood 116, no. 21 (November 19, 2010): 3634. http://dx.doi.org/10.1182/blood.v116.21.3634.3634.
Повний текст джерелаDmytrenko, O. O., I. V. Dmytrenko, Zh M. Minchenko та 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, № 2 (26 липня 2019): 53–57. http://dx.doi.org/10.25128/2078-2357.19.2.9.
Повний текст джерелаJanecke, 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, no. 8 (May 11, 2021): 1143–56. http://dx.doi.org/10.1007/s00439-021-02284-1.
Повний текст джерелаVillegas-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, and Sergio Juárez-Méndez. "The Proliferating Cell Nuclear Antigen (PCNA) Transcript Variants as Potential Relapse Markers in B-Cell Acute Lymphoblastic Leukemia." Cells 11, no. 20 (October 12, 2022): 3205. http://dx.doi.org/10.3390/cells11203205.
Повний текст джерелаBowles, Bradley, Karl Clark, and 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 (March 2021): 101. http://dx.doi.org/10.1017/cts.2021.659.
Повний текст джерела