Results 51 to 60 of about 3,165 (187)

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome [PDF]

, 2022
INTRODUCTION: Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular ...
Ilaria Quartesan, Lavin, Timothy, Novis De Farias, Luiz Eduardo, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Polke, James, Natalia Dominik, Dominik, Natalia, Alexander Gary, Das, Soma, Roberto Simone, Perini, Cecilia, Henry Houlden, Delfeld, Megan, Joseph Shaw, Priscilla Kandikatla, Wood, Nick W, El-Saddig, Amar, Cortese, Andrea, Stefano Facchini, Alice Gennari, Kandikatla, Priscilla, Gomez, Christopher, Facchini, Stefano, Riccardo Ronco, Helen Chen, Jin Yun, David Gosal, Timothy Lavin, Crespan, Emmanuele, Sanjukta Tawde, Shaw, Joseph, Gennari, Alice, Gosal, David, Emmanuele Crespan, Christopher Gomez, Szymura, Agnieszka, Nifang Niu, Jeremy Dan Schmahmann, Gary, Alexander, Nick W. Wood, James Polke, Reilly, Mary M, Vegezzi, Elisa, Andrea Cortese, Quartesan, Ilaria, Tawde, Sanjukta, Stuart, Skye, Arianna Tucci, Megan Delfeld, Tucci, Arianna, Jin Yun Helen Chen, Niu, Nifang, Soma Das, Sara Nagy, Skye Stuart, Elisa Vegezzi, Mary M. Reilly, Cecilia Perini, Ronco, Riccardo, Nagy, Sara, Amar El-Saddig, Schmahmann, Jeremy Dan, Houlden, Henry, Riccardo Currò, Simone, Roberto, Currò, Riccardo   +65 more
core   +1 more source

Survival curves plotted by Kaplan-Meier analysis according to RFC1 80G>A genotypes.

, 2016
(A) The survival rate was worse in RFC1 80AA (22.2%) patients as compared to the RFC1 80GA (76%) and RFC1 80GG (61.5%) genotypes (p = 0.005). (B) The survival rate was lower among the RFC1 80 AA patients as compared with the G allele carriers (RFC1 80GG ...
Andrea Ruzzenente (432702), Sang-Woon Choi (784598), Patrizia Guarini (42983), Simone Conci (3390632), Francesca Pizzolo (42976), Sara Moruzzi (3390635), Simonetta Friso (42977), Filippo Mazzi (3390644), Silvia Udali (3390641), Patrizia Pattini (266200), Oliviero Olivieri (42975), Alfredo Guglielmi (432708), Stephanie A. Tammen (3390638), Nicola Martinelli (42974)   +13 more
core   +1 more source

The Role of Genetic Polymorphisms in High-Dose Methotrexate Toxicity and Response in Hematological Malignancies: A Systematic Review and Meta-Analysis

Frontiers in Pharmacology, 2021
Objective: High-dose methotrexate (HDMTX) is a mainstay therapeutic agent for the treatment of diverse hematological malignancies, and it plays a significant role in interindividual variability regarding the pharmacokinetics and toxicity.
Zaiwei Song, Zaiwei Song, Zaiwei Song, Yang Hu, Yang Hu, Yang Hu, Yang Hu, Shuang Liu, Shuang Liu, Shuang Liu, Dan Jiang, Dan Jiang, Dan Jiang, Dan Jiang, Zhanmiao Yi, Zhanmiao Yi, Zhanmiao Yi, Mason M. Benjamin, Rongsheng Zhao, Rongsheng Zhao, Rongsheng Zhao   +20 more
doaj   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

Mortality risk by Hazard Ratio for RFC1 80AA genotype with either high or low mCyt levels.

, 2016
The RFC1 80AA genotype with low mCyt levels (≤5.34%), had a higher Hazard Ratio (HR) as compared to RFC1 80G carriership (RFC1 80GA plus RFC1 80GG) (HR = 6.62, 95% CI 2.17–20.25, p = 0.001).
Andrea Ruzzenente (432702), Sang-Woon Choi (784598), Patrizia Guarini (42983), Simone Conci (3390632), Francesca Pizzolo (42976), Sara Moruzzi (3390635), Simonetta Friso (42977), Filippo Mazzi (3390644), Silvia Udali (3390641), Patrizia Pattini (266200), Oliviero Olivieri (42975), Alfredo Guglielmi (432708), Stephanie A. Tammen (3390638), Nicola Martinelli (42974)   +13 more
core   +1 more source

Polymorphisms in maternal selected folate metabolism-related genes in neural tube defect-affected pregnancy

Advanced Biomedical Research, 2023
Background: Neural tube defects (NTDs) are abnormalities of the brain and spinal cord, which occur as a result of failure in neural tube closure during embryogenesis.
Winner K Dewelle, Daniel S Melka, Abenezer T Aklilu, Mahlet Y Gebremariam, Markos A Alemayehu, Dawit H Alemayehu, Tamrayehu S Woldemichael, Solomon G Gebre   +7 more
doaj   +1 more source

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

, 2022
International audienceAbstract Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1.
Ardouin, Olivier, Anne-Gaelle Corbillé, Mathilde Renaud, Daumas Duport, Benjamin, Charles Vangoethem, Bertrand Isidor, Bergougnoux, Anne, Cossée, Mireille, Mehdi Benkirane, Renaud, Mathilde, Taulan-Cadars, Magali, Benjamin Daumas Duport, Larrieu, Lise, Isidor, Bertrand, Koenig, Michel, Varilh, Jessica, Tuffery-Giraud, Sylvie, Jessica Varilh, Baux, David, Taulan, Magali, da Cunha, Dylan, Marelli, Cecilia, Benkirane, Mehdi, Morgane Pointaux, Anne Bergougnoux, Mireille Cossée, Magali Taulan, Vincent, Marie Claire, Dylan Da Cunha, Marie-Claire Vincent, Pointaux, Morgane, Olivier Ardouin, Vangoethem, Charles, Michel Koenig, Lise Larrieu, Raul Juntas Morales, Corbillé, Anne Gaelle, Cecilia Marelli, David Baux, Juntas Morales, Raul, Sylvie Tuffery-Giraud   +40 more
core   +1 more source

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS): A case report of

Radiology Case Reports
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset neurodegenerative disorder associated with biallelic RFC1 repeat expansions.
Dhanush Amin, MD, Raman Deep, MD, Vidhi Dhaduk, MD, Riyaz Ahmed FK, MD, Jay Kakadiya, MD   +4 more
doaj   +1 more source

Subcellular localization and distribution of the reduced folate carrier in normal rat tissues

European Journal of Histochemistry, 2011
The reduced folate carrier (Rfc1; Slc19a1) mediated transport of reduced folates and antifolate drugs such as methotrexate (MTX) play an essential role in physiological folate homeostasis and MTX cancer chemotherapy.
M. Hinken, S. Halwachs, C. Kneuer, W. Honscha   +3 more
doaj   +1 more source

The DNI inhibits RFC1 recruitment to the viral replication complex.

, 2012
A. Brd4 interacts with RFC1 and this interaction is not affected by Brd4 471-730. 293T cells were co-transfected with an RFC1 expression plasmid and either a pCDNA4C plasmid encoding Xpress-tagged Brd4 471-730 or the empty vector.
Jianxin You (121729), Christopher B. Buck (121726), Jing Li (10611), Rachel M. Schowalter (121719), Xin Wang (91924), Jing Jiao (121723)   +5 more
core   +1 more source