Статті в журналах з теми "Rfc1"
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Amin, Neelam S., K. Michelle Tuffo, and Connie Holm. "Dominant Mutations in Three Different Subunits of Replication Factor C Suppress Replication Defects in Yeast PCNA Mutants." Genetics 153, no. 4 (1999): 1617–28. http://dx.doi.org/10.1093/genetics/153.4.1617.
Повний текст джерелаCullmann, G., K. Fien, R. Kobayashi, and B. Stillman. "Characterization of the five replication factor C genes of Saccharomyces cerevisiae." Molecular and Cellular Biology 15, no. 9 (1995): 4661–71. http://dx.doi.org/10.1128/mcb.15.9.4661.
Повний текст джерелаCui, Kan, Lei Qin, Xianyu Tang, et al. "A Single Amino Acid Substitution in RFC4 Leads to Endoduplication and Compromised Resistance to DNA Damage in Arabidopsis thaliana." Genes 13, no. 6 (2022): 1037. http://dx.doi.org/10.3390/genes13061037.
Повний текст джерелаGong, Maokai, James Yess, Tatiana Connolly, et al. "Molecular Mechanism of Antifolate Transport-Deficiency in a Methotrexate-Resistant MOLT-3 Human Leukemia Cell Line." Blood 89, no. 7 (1997): 2494–99. http://dx.doi.org/10.1182/blood.v89.7.2494.
Повний текст джерелаNaiki, Takahiro, Tae Kondo, Daisuke Nakada, Kunihiro Matsumoto, and Katsunori Sugimoto. "Chl12 (Ctf18) Forms a Novel Replication Factor C-Related Complex and Functions Redundantly with Rad24 in the DNA Replication Checkpoint Pathway." Molecular and Cellular Biology 21, no. 17 (2001): 5838–45. http://dx.doi.org/10.1128/mcb.21.17.5838-5845.2001.
Повний текст джерелаPanda, Debasis, Daniel J. Fernandez, Madhu Lal, Eugen Buehler, and Bernard Moss. "Triad of human cellular proteins, IRF2, FAM111A, and RFC3, restrict replication of orthopoxvirus SPI-1 host-range mutants." Proceedings of the National Academy of Sciences 114, no. 14 (2017): 3720–25. http://dx.doi.org/10.1073/pnas.1700678114.
Повний текст джерелаKai, Mihoko, Hiroyuki Tanaka, and Teresa S. F. Wang. "Fission Yeast Rad17 Associates with Chromatin in Response to Aberrant Genomic Structures." Molecular and Cellular Biology 21, no. 10 (2001): 3289–301. http://dx.doi.org/10.1128/mcb.21.10.3289-3301.2001.
Повний текст джерелаMa, David W. L., Richard H. Finnell, Laurie A. Davidson, et al. "Folate Transport Gene Inactivation in Mice Increases Sensitivity to Colon Carcinogenesis." Cancer Research 65, no. 3 (2005): 887–97. http://dx.doi.org/10.1158/0008-5472.887.65.3.
Повний текст джерелаXie, Yali, Chris Counter, and Eric Alani. "Characterization of the Repeat-Tract Instability and Mutator Phenotypes Conferred by a Tn3 Insertion in RFC1, the Large Subunit of the Yeast Clamp Loader." Genetics 151, no. 2 (1999): 499–509. http://dx.doi.org/10.1093/genetics/151.2.499.
Повний текст джерелаZhao, Rongbao, Feng Gao, and I. David Goldman. "Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells." American Journal of Physiology-Cell Physiology 282, no. 6 (2002): C1512—C1517. http://dx.doi.org/10.1152/ajpcell.00547.2001.
Повний текст джерелаKim, Hee-Sook, and Steven J. Brill. "Rfc4 Interacts with Rpa1 and Is Required for Both DNA Replication and DNA Damage Checkpoints in Saccharomyces cerevisiae." Molecular and Cellular Biology 21, no. 11 (2001): 3725–37. http://dx.doi.org/10.1128/mcb.21.11.3725-3737.2001.
Повний текст джерелаTraschütz, Andreas, Andrea Cortese, Selina Reich, et al. "Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease." Neurology 96, no. 9 (2021): e1369-e1382. http://dx.doi.org/10.1212/wnl.0000000000011528.
Повний текст джерелаBeckwith, W., and M. A. McAlear. "Allele-specific interactions between the yeast RFC1 and RFC5 genes suggest a basis for RFC subunit-subunit interactions." Molecular Genetics and Genomics 264, no. 4 (2000): 378–91. http://dx.doi.org/10.1007/s004380000339.
Повний текст джерелаThieme, Andreas, Christel Depienne, and Dagmar Timmann. "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing." Medizinische Genetik 33, no. 4 (2021): 301–10. http://dx.doi.org/10.1515/medgen-2021-2098.
Повний текст джерелаDavies, Kayli, David J. Szmulewicz, Louise A. Corben, Martin Delatycki, and Paul J. Lockhart. "RFC1-Related Disease." Neurology Genetics 8, no. 5 (2022): e200016. http://dx.doi.org/10.1212/nxg.0000000000200016.
Повний текст джерелаCurrò, Riccardo, Alessandro Salvalaggio, Stefano Tozza, et al. "RFC1 expansions are a common cause of idiopathic sensory neuropathy." Brain 144, no. 5 (2021): 1542–50. http://dx.doi.org/10.1093/brain/awab072.
Повний текст джерелаde Jonge, Robert, Wim J. E. Tissing, Jan Hendrik Hooijberg, et al. "Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia." Blood 113, no. 10 (2009): 2284–89. http://dx.doi.org/10.1182/blood-2008-07-165928.
Повний текст джерелаAboud Syriani, Dona, Darice Wong, Sameer Andani, et al. "Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort." Neurology Genetics 6, no. 3 (2020): e440. http://dx.doi.org/10.1212/nxg.0000000000000440.
Повний текст джерелаTanaka, Hiroyuki, Koichi Tanaka, Hiroshi Murakami, and Hiroto Okayama. "Fission Yeast Cdc24 Is a Replication Factor C- and Proliferating Cell Nuclear Antigen-Interacting Factor Essential for S-Phase Completion." Molecular and Cellular Biology 19, no. 2 (1999): 1038–48. http://dx.doi.org/10.1128/mcb.19.2.1038.
Повний текст джерелаNaiki, Takahiro, Toshiyasu Shimomura, Tae Kondo, Kunihiro Matsumoto, and Katsunori Sugimoto. "Rfc5, in Cooperation with Rad24, Controls DNA Damage Checkpoints throughout the Cell Cycle inSaccharomyces cerevisiae." Molecular and Cellular Biology 20, no. 16 (2000): 5888–96. http://dx.doi.org/10.1128/mcb.20.16.5888-5896.2000.
Повний текст джерелаReilly, Mary M. "RFC1 CANVAS: the expanding phenotype." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 4 (2021): 345. http://dx.doi.org/10.1136/jnnp-2020-325504.
Повний текст джерелаScriba, Carolin K., Sarah J. Beecroft, Joshua S. Clayton, et al. "A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families." Brain 143, no. 10 (2020): 2904–10. http://dx.doi.org/10.1093/brain/awaa263.
Повний текст джерелаBiselli, Joice Matos, Daniela Brumati, Vivian Fernanda Frigeri, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo, and Érika Cristina Pavarino-Bertelli. "A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology." Sao Paulo Medical Journal 126, no. 6 (2008): 329–32. http://dx.doi.org/10.1590/s1516-31802008000600007.
Повний текст джерелаMalaquias, Maria João, Luis Braz, Cláudia Santos Silva, et al. "MultisystemicRFC1-Related Disorder." Neurology: Clinical Practice 13, no. 5 (2023): e200190. http://dx.doi.org/10.1212/cpj.0000000000200190.
Повний текст джерелаGisatulin, Maria, Valerija Dobricic, Christine Zühlke, et al. "Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes." Neurology 95, no. 21 (2020): e2912-e2923. http://dx.doi.org/10.1212/wnl.0000000000010744.
Повний текст джерелаRajgopal, Arun, Esteban E. Sierra, Rongbao Zhao, and I. David Goldman. "Expression of the reduced folate carrier SLC19A1 in IEC-6 cells results in two distinct transport activities." American Journal of Physiology-Cell Physiology 281, no. 5 (2001): C1579—C1586. http://dx.doi.org/10.1152/ajpcell.2001.281.5.c1579.
Повний текст джерелаRoberts, Rhys C. "Removing the idiopathic from the chronic sensory neuropathies." Brain 144, no. 5 (2021): 1291–92. http://dx.doi.org/10.1093/brain/awab150.
Повний текст джерелаPaisán-Ruiz, Coro, and Joanna C. Jen. "CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion." Brain 143, no. 2 (2020): 386–90. http://dx.doi.org/10.1093/brain/awaa015.
Повний текст джерелаStewart, D. J., M. I. Nunez, J. Jelinek, et al. "Decitabine effect on human tumor expression of various transporters." Journal of Clinical Oncology 27, no. 15_suppl (2009): 2540. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.2540.
Повний текст джерелаNoskov, Vladimir N., Hiroyuki Araki, and Akio Sugino. "The RFC2 Gene, Encoding the Third-Largest Subunit of the Replication Factor C Complex, Is Required for an S-Phase Checkpoint in Saccharomyces cerevisiae." Molecular and Cellular Biology 18, no. 8 (1998): 4914–23. http://dx.doi.org/10.1128/mcb.18.8.4914.
Повний текст джерелаDeng, Jianxiong, Fangyan Zhong, Weiguo Gu, and Feng Qiu. "Exploration of Prognostic Biomarkers among Replication Factor C Family in the Hepatocellular Carcinoma." Evolutionary Bioinformatics 17 (January 2021): 117693432199410. http://dx.doi.org/10.1177/1176934321994109.
Повний текст джерелаНужный, Е. П., Н. Ю. Абрамычева, Е. Г. Воробьева, et al. "CANVAS is a common form of late-onset hereditary ataxia." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 4(213) (April 30, 2020): 51–52. http://dx.doi.org/10.25557/2073-7998.2020.04.51-52.
Повний текст джерелаCortese, Andrea, Stefano Tozza, Wai Yan Yau, et al. "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion." Brain 143, no. 2 (2020): 480–90. http://dx.doi.org/10.1093/brain/awz418.
Повний текст джерелаAbramzon, Yevgenya, Ramita Dewan, Andrea Cortese, et al. "Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 430 (November 2021): 118061. http://dx.doi.org/10.1016/j.jns.2021.118061.
Повний текст джерелаDevald, I. V., E. A. Hodus, D. Yu Nokhrin, et al. "Evaluation of the influence of polymorphisms of the transporter genes (<i>RFC1</i>, <i>MDR1</i>) and <i>GGH</i> on the efficacy of methotrexate in rheumatoid arthritis." Modern Rheumatology Journal 17, no. 4 (2023): 28–34. http://dx.doi.org/10.14412/1996-7012-2023-4-28-34.
Повний текст джерелаHerrmann, Laura, Mathias Gelderblom, Maxim Bester, et al. "Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1." Parkinsonism & Related Disorders 95 (February 2022): 54–56. http://dx.doi.org/10.1016/j.parkreldis.2022.01.001.
Повний текст джерелаTerryn, Joke, Amélie Van Eesbeeck, Sascha Vermeer, and Wim Vandenberghe. "The Characteristic Eye Movement Disorder of RFC1 ‐Linked CANVAS." Movement Disorders Clinical Practice 7, no. 2 (2020): 230–31. http://dx.doi.org/10.1002/mdc3.12896.
Повний текст джерелаZheng, Fengwei, Roxana E. Georgescu, Nina Y. Yao, Michael E. O’Donnell, and Huilin Li. "DNA is loaded through the 9-1-1 DNA checkpoint clamp in the opposite direction of the PCNA clamp." Nature Structural & Molecular Biology 29, no. 4 (2022): 376–85. http://dx.doi.org/10.1038/s41594-022-00742-6.
Повний текст джерелаFacchini, Stefano, Natalia Dominik, Arianna Manini, et al. "Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions." Biomolecules 13, no. 10 (2023): 1546. http://dx.doi.org/10.3390/biom13101546.
Повний текст джерелаMerrill, Bradley J., and Connie Holm. "The RAD52 Recombinational Repair Pathway is Essential in pol30 (PCNA) Mutants That Accumulate Small Single-Stranded DNA Fragments During DNA Synthesis." Genetics 148, no. 2 (1998): 611–24. http://dx.doi.org/10.1093/genetics/148.2.611.
Повний текст джерелаWatanabe, Kazuki, Mitsuko Nakashima, Rie Wakatsuki, et al. "Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo." Neurology Genetics 8, no. 3 (2022): e682. http://dx.doi.org/10.1212/nxg.0000000000000682.
Повний текст джерелаPark, Jeong A., Hyoung Jin Kang, Ho Joon Im, Hee Young Shin, and Hyo Seop Ahn. "Association of genetic polymorphisms in the folate pathway with efficacy and toxicity of methotrexate in pediatric osteosarcoma." Journal of Clinical Oncology 31, no. 15_suppl (2013): 10051. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.10051.
Повний текст джерелаHalmágyi, Gábor M., and David J. Szmulewicz. "Correction to: Vestibular function testing in patients with RFC1 mutations." Journal of Neurology 269, no. 4 (2022): 2264. http://dx.doi.org/10.1007/s00415-022-10975-6.
Повний текст джерелаSilva Schmitt, Gabriel, Alberto R. M. Martinez, Felipe F. Graça, et al. "Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions." Movement Disorders 35, no. 10 (2020): 1889–90. http://dx.doi.org/10.1002/mds.28286.
Повний текст джерелаGuerra-Shinohara, Elvira Maria, Kelma Cordeiro da Silva Giusti, Nathalia Sierra Monteiro, et al. "Effect of Genetic Polymorphisms Related to Folate and Homocysteine Metabolism In the Etiology of Recurrent Miscarriages." Blood 116, no. 21 (2010): 5136. http://dx.doi.org/10.1182/blood.v116.21.5136.5136.
Повний текст джерелаAndo, Masahiro, Yujiro Higuchi, Junhui Yuan, et al. "Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible." Biomedicines 10, no. 7 (2022): 1546. http://dx.doi.org/10.3390/biomedicines10071546.
Повний текст джерелаGiovannini, Sara, Marie-Christine Weller, Hana Hanzlíková, Tetsuya Shiota, Shunichi Takeda, and Josef Jiricny. "ATAD5 deficiency alters DNA damage metabolism and sensitizes cells to PARP inhibition." Nucleic Acids Research 48, no. 9 (2020): 4928–39. http://dx.doi.org/10.1093/nar/gkaa255.
Повний текст джерелаTurner, Richard D., Barnaby Hirons, Andrea Cortese, and Surinder S. Birring. "Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)." Lung 201, no. 6 (2023): 511–19. http://dx.doi.org/10.1007/s00408-023-00660-4.
Повний текст джерелаSullivan, Roisin, Wai Yan Yau, Viorica Chelban, et al. "RFC1-related ataxia is a mimic of early multiple system atrophy." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 4 (2021): 444–46. http://dx.doi.org/10.1136/jnnp-2020-325092.
Повний текст джерелаMisbah, Md, Manoj Kumar, Abul Kalam Najmi, and Mymoona Akhtar. "Identification of expression profiles and prognostic value of RFCs in colorectal cancer." Scientific Reports 14, no. 1 (2024). http://dx.doi.org/10.1038/s41598-024-56361-2.
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