Articoli di riviste sul tema "Rfc1"
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Amin, Neelam S., K. Michelle Tuffo e Connie Holm. "Dominant Mutations in Three Different Subunits of Replication Factor C Suppress Replication Defects in Yeast PCNA Mutants". Genetics 153, n. 4 (1 dicembre 1999): 1617–28. http://dx.doi.org/10.1093/genetics/153.4.1617.
Testo completoCullmann, G., K. Fien, R. Kobayashi e B. Stillman. "Characterization of the five replication factor C genes of Saccharomyces cerevisiae." Molecular and Cellular Biology 15, n. 9 (settembre 1995): 4661–71. http://dx.doi.org/10.1128/mcb.15.9.4661.
Testo completoCui, Kan, Lei Qin, Xianyu Tang, Jieying Nong, Jin Chen, Nan Wu, Xin Gong, Lixiong Yi, Chenghuizi Yang e Shitou Xia. "A Single Amino Acid Substitution in RFC4 Leads to Endoduplication and Compromised Resistance to DNA Damage in Arabidopsis thaliana". Genes 13, n. 6 (9 giugno 2022): 1037. http://dx.doi.org/10.3390/genes13061037.
Testo completoGong, Maokai, James Yess, Tatiana Connolly, S. Percy Ivy, Takao Ohnuma, Kenneth H. Cowan e Jeffrey A. Moscow. "Molecular Mechanism of Antifolate Transport-Deficiency in a Methotrexate-Resistant MOLT-3 Human Leukemia Cell Line". Blood 89, n. 7 (1 aprile 1997): 2494–99. http://dx.doi.org/10.1182/blood.v89.7.2494.
Testo completoNaiki, Takahiro, Tae Kondo, Daisuke Nakada, Kunihiro Matsumoto e 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, n. 17 (1 settembre 2001): 5838–45. http://dx.doi.org/10.1128/mcb.21.17.5838-5845.2001.
Testo completoPanda, Debasis, Daniel J. Fernandez, Madhu Lal, Eugen Buehler e 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, n. 14 (20 marzo 2017): 3720–25. http://dx.doi.org/10.1073/pnas.1700678114.
Testo completoKai, Mihoko, Hiroyuki Tanaka e Teresa S. F. Wang. "Fission Yeast Rad17 Associates with Chromatin in Response to Aberrant Genomic Structures". Molecular and Cellular Biology 21, n. 10 (15 maggio 2001): 3289–301. http://dx.doi.org/10.1128/mcb.21.10.3289-3301.2001.
Testo completoMa, David W. L., Richard H. Finnell, Laurie A. Davidson, Evelyn S. Callaway, Ofer Spiegelstein, Jorge A. Piedrahita, J. Michael Salbaum et al. "Folate Transport Gene Inactivation in Mice Increases Sensitivity to Colon Carcinogenesis". Cancer Research 65, n. 3 (1 febbraio 2005): 887–97. http://dx.doi.org/10.1158/0008-5472.887.65.3.
Testo completoXie, Yali, Chris Counter e 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, n. 2 (1 febbraio 1999): 499–509. http://dx.doi.org/10.1093/genetics/151.2.499.
Testo completoZhao, Rongbao, Feng Gao e 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, n. 6 (1 giugno 2002): C1512—C1517. http://dx.doi.org/10.1152/ajpcell.00547.2001.
Testo completoKim, Hee-Sook, e 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, n. 11 (1 giugno 2001): 3725–37. http://dx.doi.org/10.1128/mcb.21.11.3725-3737.2001.
Testo completoTraschütz, Andreas, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette M. Hartmann et al. "Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease". Neurology 96, n. 9 (25 gennaio 2021): e1369-e1382. http://dx.doi.org/10.1212/wnl.0000000000011528.
Testo completoBeckwith, W., e 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, n. 4 (novembre 2000): 378–91. http://dx.doi.org/10.1007/s004380000339.
Testo completoThieme, Andreas, Christel Depienne e Dagmar Timmann. "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing". Medizinische Genetik 33, n. 4 (1 dicembre 2021): 301–10. http://dx.doi.org/10.1515/medgen-2021-2098.
Testo completoDavies, Kayli, David J. Szmulewicz, Louise A. Corben, Martin Delatycki e Paul J. Lockhart. "RFC1-Related Disease". Neurology Genetics 8, n. 5 (29 agosto 2022): e200016. http://dx.doi.org/10.1212/nxg.0000000000200016.
Testo completoCurrò, Riccardo, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli et al. "RFC1 expansions are a common cause of idiopathic sensory neuropathy". Brain 144, n. 5 (1 maggio 2021): 1542–50. http://dx.doi.org/10.1093/brain/awab072.
Testo completode Jonge, Robert, Wim J. E. Tissing, Jan Hendrik Hooijberg, Gerrit Jansen, Gertjan J. L. Kaspers, Jan Lindemans, Godefridus J. Peters e Rob Pieters. "Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia". Blood 113, n. 10 (5 marzo 2009): 2284–89. http://dx.doi.org/10.1182/blood-2008-07-165928.
Testo completoAboud Syriani, Dona, Darice Wong, Sameer Andani, Claudio M. De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer et al. "Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort". Neurology Genetics 6, n. 3 (20 maggio 2020): e440. http://dx.doi.org/10.1212/nxg.0000000000000440.
Testo completoTanaka, Hiroyuki, Koichi Tanaka, Hiroshi Murakami e 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, n. 2 (1 febbraio 1999): 1038–48. http://dx.doi.org/10.1128/mcb.19.2.1038.
Testo completoNaiki, Takahiro, Toshiyasu Shimomura, Tae Kondo, Kunihiro Matsumoto e Katsunori Sugimoto. "Rfc5, in Cooperation with Rad24, Controls DNA Damage Checkpoints throughout the Cell Cycle inSaccharomyces cerevisiae". Molecular and Cellular Biology 20, n. 16 (15 agosto 2000): 5888–96. http://dx.doi.org/10.1128/mcb.20.16.5888-5896.2000.
Testo completoReilly, Mary M. "RFC1 CANVAS: the expanding phenotype". Journal of Neurology, Neurosurgery & Psychiatry 92, n. 4 (9 febbraio 2021): 345. http://dx.doi.org/10.1136/jnnp-2020-325504.
Testo completoScriba, Carolin K., Sarah J. Beecroft, Joshua S. Clayton, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Natalia Dominik et al. "A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families". Brain 143, n. 10 (1 ottobre 2020): 2904–10. http://dx.doi.org/10.1093/brain/awaa263.
Testo completoBiselli, Joice Matos, Daniela Brumati, Vivian Fernanda Frigeri, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo e 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, n. 6 (novembre 2008): 329–32. http://dx.doi.org/10.1590/s1516-31802008000600007.
Testo completoMalaquias, Maria João, Luis Braz, Cláudia Santos Silva, Joana Damásio, André Jorge, João M. Lemos, Catarina F. Campos et al. "MultisystemicRFC1-Related Disorder". Neurology: Clinical Practice 13, n. 5 (5 settembre 2023): e200190. http://dx.doi.org/10.1212/cpj.0000000000200190.
Testo completoGisatulin, Maria, Valerija Dobricic, Christine Zühlke, Yorck Hellenbroich, Vera Tadic, Alexander Münchau, Klaus Isenhardt et al. "Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes". Neurology 95, n. 21 (1 settembre 2020): e2912-e2923. http://dx.doi.org/10.1212/wnl.0000000000010744.
Testo completoRajgopal, Arun, Esteban E. Sierra, Rongbao Zhao e 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, n. 5 (1 novembre 2001): C1579—C1586. http://dx.doi.org/10.1152/ajpcell.2001.281.5.c1579.
Testo completoRoberts, Rhys C. "Removing the idiopathic from the chronic sensory neuropathies". Brain 144, n. 5 (1 maggio 2021): 1291–92. http://dx.doi.org/10.1093/brain/awab150.
Testo completoPaisán-Ruiz, Coro, e Joanna C. Jen. "CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion". Brain 143, n. 2 (1 febbraio 2020): 386–90. http://dx.doi.org/10.1093/brain/awaa015.
Testo completoStewart, D. J., M. I. Nunez, J. Jelinek, Z. Guo, D. Hong, S. Gupta, Y. Oki, J. Issa, R. Kurzrock e I. I. Wistuba. "Decitabine effect on human tumor expression of various transporters". Journal of Clinical Oncology 27, n. 15_suppl (20 maggio 2009): 2540. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.2540.
Testo completoNoskov, Vladimir N., Hiroyuki Araki e 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, n. 8 (1 agosto 1998): 4914–23. http://dx.doi.org/10.1128/mcb.18.8.4914.
Testo completoDeng, Jianxiong, Fangyan Zhong, Weiguo Gu e Feng Qiu. "Exploration of Prognostic Biomarkers among Replication Factor C Family in the Hepatocellular Carcinoma". Evolutionary Bioinformatics 17 (gennaio 2021): 117693432199410. http://dx.doi.org/10.1177/1176934321994109.
Testo completoНужный, Е. П., Н. Ю. Абрамычева, Е. Г. Воробьева, Е. О. Иванова, Ю. А. Шпилюкова, А. И. Белякова-Бодина, Д. В. И et al. "CANVAS is a common form of late-onset hereditary ataxia". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», n. 4(213) (30 aprile 2020): 51–52. http://dx.doi.org/10.25557/2073-7998.2020.04.51-52.
Testo completoCortese, Andrea, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer et al. "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion". Brain 143, n. 2 (1 febbraio 2020): 480–90. http://dx.doi.org/10.1093/brain/awz418.
Testo completoAbramzon, Yevgenya, Ramita Dewan, Andrea Cortese, Susan Resnick, Luigi Ferrucci, Henry Houlden e Bryan J. Traynor. "Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis". Journal of the Neurological Sciences 430 (novembre 2021): 118061. http://dx.doi.org/10.1016/j.jns.2021.118061.
Testo completoDevald, I. V., E. A. Hodus, D. Yu Nokhrin, E. B. Khromova, G. L. Ignatova, D. S. Stashkevich, A. M. Lila e A. L. Burmistrova. "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, n. 4 (20 agosto 2023): 28–34. http://dx.doi.org/10.14412/1996-7012-2023-4-28-34.
Testo completoHerrmann, Laura, Mathias Gelderblom, Maxim Bester, Natalie Deininger, Thorsten Schütze, Ute Hidding, Caspar Gross et al. "Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1". Parkinsonism & Related Disorders 95 (febbraio 2022): 54–56. http://dx.doi.org/10.1016/j.parkreldis.2022.01.001.
Testo completoTerryn, Joke, Amélie Van Eesbeeck, Sascha Vermeer e Wim Vandenberghe. "The Characteristic Eye Movement Disorder of RFC1 ‐Linked CANVAS". Movement Disorders Clinical Practice 7, n. 2 (24 gennaio 2020): 230–31. http://dx.doi.org/10.1002/mdc3.12896.
Testo completoZheng, Fengwei, Roxana E. Georgescu, Nina Y. Yao, Michael E. O’Donnell e 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, n. 4 (21 marzo 2022): 376–85. http://dx.doi.org/10.1038/s41594-022-00742-6.
Testo completoFacchini, Stefano, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi et al. "Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions". Biomolecules 13, n. 10 (19 ottobre 2023): 1546. http://dx.doi.org/10.3390/biom13101546.
Testo completoMerrill, Bradley J., e 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, n. 2 (1 febbraio 1998): 611–24. http://dx.doi.org/10.1093/genetics/148.2.611.
Testo completoWatanabe, Kazuki, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima e Hirotomo Saitsu. "Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo". Neurology Genetics 8, n. 3 (16 maggio 2022): e682. http://dx.doi.org/10.1212/nxg.0000000000000682.
Testo completoPark, Jeong A., Hyoung Jin Kang, Ho Joon Im, Hee Young Shin e 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, n. 15_suppl (20 maggio 2013): 10051. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.10051.
Testo completoHalmágyi, Gábor M., e David J. Szmulewicz. "Correction to: Vestibular function testing in patients with RFC1 mutations". Journal of Neurology 269, n. 4 (10 marzo 2022): 2264. http://dx.doi.org/10.1007/s00415-022-10975-6.
Testo completoSilva Schmitt, Gabriel, Alberto R. M. Martinez, Felipe F. Graça, Fabrício Diniz Lima, Luciana C. Bonadia, Bárbara Juarez Amorim, Anamarli Nucci e Marcondes Cavalcante França. "Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions". Movement Disorders 35, n. 10 (ottobre 2020): 1889–90. http://dx.doi.org/10.1002/mds.28286.
Testo completoGuerra-Shinohara, Elvira Maria, Kelma Cordeiro da Silva Giusti, Nathalia Sierra Monteiro, Robson José Lazaro, Fernanda Midori Seino, Carolina Tosin Bueno, Mário Henrique Burlacchini Carvalho, Antônio Amorim Filho, Carlos Chiattone e Marcelo Zugaib. "Effect of Genetic Polymorphisms Related to Folate and Homocysteine Metabolism In the Etiology of Recurrent Miscarriages". Blood 116, n. 21 (19 novembre 2010): 5136. http://dx.doi.org/10.1182/blood.v116.21.5136.5136.
Testo completoAndo, Masahiro, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi et al. "Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible". Biomedicines 10, n. 7 (29 giugno 2022): 1546. http://dx.doi.org/10.3390/biomedicines10071546.
Testo completoGiovannini, Sara, Marie-Christine Weller, Hana Hanzlíková, Tetsuya Shiota, Shunichi Takeda e Josef Jiricny. "ATAD5 deficiency alters DNA damage metabolism and sensitizes cells to PARP inhibition". Nucleic Acids Research 48, n. 9 (16 aprile 2020): 4928–39. http://dx.doi.org/10.1093/nar/gkaa255.
Testo completoTurner, Richard D., Barnaby Hirons, Andrea Cortese e Surinder S. Birring. "Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)". Lung 201, n. 6 (18 novembre 2023): 511–19. http://dx.doi.org/10.1007/s00408-023-00660-4.
Testo completoSullivan, Roisin, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O'Connor, John Hardy, Nicholas Wood, Andrea Cortese e Henry Houlden. "RFC1-related ataxia is a mimic of early multiple system atrophy". Journal of Neurology, Neurosurgery & Psychiatry 92, n. 4 (9 febbraio 2021): 444–46. http://dx.doi.org/10.1136/jnnp-2020-325092.
Testo completoMisbah, Md, Manoj Kumar, Abul Kalam Najmi e Mymoona Akhtar. "Identification of expression profiles and prognostic value of RFCs in colorectal cancer". Scientific Reports 14, n. 1 (19 marzo 2024). http://dx.doi.org/10.1038/s41598-024-56361-2.
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