Results 51 to 60 of about 4,949 (187)

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Biomedicines, 2022
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima   +17 more
doaj   +1 more source

The MHC-encoded TAP1/LMP2 bidirectional promoter is down-regulated in highly oncogenic adenovirus type 12 transformed cells [PDF]

, 1933
Cells transformed by human adenovirus 12 (Ad12) exhibit extremely low surface levels of MHC class I molecules and contain reduced levels of class I heavy chain mRNAs.
Proffitt, James A, Blair, G.Eric
core   +1 more source

Methotrexate in Pediatric Osteosarcoma: Response and Toxicity in Relation to Genetic Polymorphisms and Dihydrofolate Reductase and Reduced Folate Carrier 1 Expression [PDF]

, 2009
To determine the influence of the genotype and the level of expression of different enzymes involved in folate metabolism on the response to and toxicity of high-dose methotrexate treatment in pediatric osteosarcomas.
Marrodán, L. (Lucía), Patiño-García, A. (Ana), San-Julian, M. (Mikel), Sierrasesumaga, L. (Luis), Zalacain, M. (Marta)   +4 more
core   +1 more source

Association of biallelic RFC1 expansion with early‐onset Parkinson's disease

European Journal of Neurology, 2023
AbstractBackground and PurposeThe biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late‐onset ataxia. The clinical spectrum of RFC1 disease has expanded since the first identification of biallelic (AAGGG)exp ...
Pauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, Riitta Ahmasalo, Eriko Koshimizu, Satoko Miyatake, Anri Hurme‐Niiranen, Ari Siitonen, Hiroshi Doi, Fumiaki Tanaka, Naomichi Matsumoto, Kari Majamaa, Laura Kytövuori   +12 more
openaire   +5 more sources

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion [PDF]

Brain, 2020
Abstract Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late ...
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly   +41 more
openaire   +5 more sources

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

Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism

Journal of the Peripheral Nervous System, 2022
AbstractBiallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)‐like syndrome.
Christopher J. Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S. Rubin, Huw R. Morris, Andrea Cortese, Valeria Iodice, Mary M. Reilly   +8 more
openaire   +4 more sources

CRL4-like Clr4 complex in Schizosaccharomyces pombe depends on an exposed surface of Dos1 for heterochromatin silencing [PDF]

, 2014
Repressive histone H3 lysine 9 methylation (H3K9me) and its recognition by HP1 proteins are necessary for pericentromeric heterochromatin formation. In Schizosaccharomyces pombe, H3K9me deposition depends on the RNAi pathway.
Joshua-Tor, L., Kim, H. S., Kuscu, C., Martienssen, R. A., Schalch, T., Wah, D. A., Zaratiegui, M.   +6 more
core   +1 more source

Characterization of subcellular localization of eukaryotic clamp loader/unloader and its regulatory mechanism

Scientific Reports, 2021
Proliferating cell nuclear antigen (PCNA) plays a critical role as a processivity clamp for eukaryotic DNA polymerases and a binding platform for many DNA replication and repair proteins.
Su Hyung Park, Seong-jung Kim, Kyungjae Myung, Kyoo-young Lee   +3 more
doaj   +1 more source

Cryo-EM structures reveal that RFC recognizes both the 3′- and 5′-DNA ends to load PCNA onto gaps for DNA repair

eLife, 2022
RFC uses ATP to assemble PCNA onto primed sites for replicative DNA polymerases δ and ε. The RFC pentamer forms a central chamber that binds 3′ ss/ds DNA junctions to load PCNA onto DNA during replication.
Fengwei Zheng, Roxana Georgescu, Nina Y Yao, Huilin Li, Michael E O'Donnell   +4 more
doaj   +1 more source