Zobrazeno 1 - 10 of 77 pro vyhledávání: '"Peter L Nagy"'
1
Akademický článek
Blood group typing from whole-genome sequencing data.
Autor: Julien Paganini, Peter L Nagy, Nicholas Rouse, Philippe Gouret, Jacques Chiaroni, Chistophe Picard, Julie Di Cristofaro
Publikováno v: PLoS ONE, Vol 15, Iss 11, p e0242168 (2020)
Many questions can be explored thanks to whole-genome data. The aim of this study was to overcome their main limits, software availability and database accuracy, and estimate the feasibility of red blood cell (RBC) antigen typing from whole-genome se
Externí odkaz: https://doaj.org/article/e3c78a77683e492097dd339930128c6f
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2
Akademický článek
A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading
Autor: Chun-Min Shan, Jiyong Wang, Ke Xu, Huijie Chen, Jia-Xing Yue, Stuart Andrews, James J Moresco, John R Yates III, Peter L Nagy, Liang Tong, Songtao Jia
Publikováno v: eLife, Vol 5 (2016)
Histone lysine-to-methionine (K-to-M) mutations are associated with multiple cancers, and they function in a dominant fashion to block the methylation of corresponding lysines on wild type histones. However, their mechanisms of function are controver
Externí odkaz: https://doaj.org/article/04ee4764c55949d7a952403e1f5ec89d
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3
Akademický článek
The proper splicing of RNAi factors is critical for pericentric heterochromatin assembly in fission yeast.
Autor: Scott P Kallgren, Stuart Andrews, Xavier Tadeo, Haitong Hou, James J Moresco, Patricia G Tu, John R Yates, Peter L Nagy, Songtao Jia
Publikováno v: PLoS Genetics, Vol 10, Iss 5, p e1004334 (2014)
Heterochromatin preferentially assembles at repetitive DNA elements, playing roles in transcriptional silencing, recombination suppression, and chromosome segregation. The RNAi machinery is required for heterochromatin assembly in a diverse range of
Externí odkaz: https://doaj.org/article/71068165f844496aa921ad3a81bb2e3b
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4
Akademický článek
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.
Autor: Anupam Paliwal, Alexis M Temkin, Kristi Kerkel, Alexander Yale, Iveta Yotova, Natalia Drost, Simon Lax, Chia-Ling Nhan-Chang, Charles Powell, Alain Borczuk, Abraham Aviv, Ronald Wapner, Xiaowei Chen, Peter L Nagy, Nicholas Schork, Catherine Do, Ali Torkamani, Benjamin Tycko
Publikováno v: PLoS Genetics, Vol 9, Iss 8, p e1003622 (2013)
Allele-specific DNA methylation (ASM) is well studied in imprinted domains, but this type of epigenetic asymmetry is actually found more commonly at non-imprinted loci, where the ASM is dictated not by parent-of-origin but instead by the local haplot
Externí odkaz: https://doaj.org/article/f0e4d8065da1497d94502a7a8f5e1683
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6
Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts
Autor: Ulrich Broeckel, M. Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L. Nagy, Gunter Scharer, Aaron D. Bossler, Vanessa Rodriguez, Aaron Stence, Cindy Skinner, Steven A Skinner, Ravindra Kolhe, Roger Stevenson
Several medical societies including the American College of Medical Genetics and Genomics, the American Academy of Neurology, and the Association of Molecular Pathology recommend chromosomal microarray (CMA) as the first-tier test in the genetic work
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::047b9c7eedb0e6d1102f3cd6872530c2
https://doi.org/10.1101/2022.12.26.22283900
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7
Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes
Autor: Andrew I. Mikhail, Peter L. Nagy, Katherine Manta, Nicholas Rouse, Alexander Manta, Sean Y. Ng, Michael F. Nagy, Paul Smith, Jian-Qiang Lu, Joshua P. Nederveen, Vladimir Ljubicic, Mark A. Tarnopolsky
Publikováno v: Journal of Clinical Investigation. 132
BackgroundMyotonic dystrophy type 1 (DM1) is a complex life-limiting neuromuscular disorder characterized by severe skeletal muscle atrophy, weakness, and cardiorespiratory defects. Exercised DM1 mice exhibit numerous physiological benefits that are
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117d759a0eb6bd8bc20700497afad3ab
https://doi.org/10.1172/jci156125
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9
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration
Autor: Dirk Klee, Eva Kildall Hejbøl, Ljubo Markovic, Marica Bakovic, Mark A. Tarnopolsky, Lauren Brady, Vernon W. Dolinsky, Maria Kibaek, Annette Seibt, Prasoon Agarwal, Else Gade, Rami Abou Jamra, Henrik Daa Schrøder, Martin Jakob Larsen, Adrian Taylor, Peter L. Nagy, Dagmar Wieczorek, Felix Distelmaier, Christina Fagerberg, Nicholas A. Rouse
Publikováno v: Fagerberg, C R, Taylor, A, Distelmaier, F, Schrøder, H D, Kibæk, M, Wieczorek, D, Tarnopolsky, M, Brady, L, Larsen, M J, Jamra, R A, Seibt, A, Hejbøl, E K, Gade, E, Markovic, L, Klee, D, Nagy, P, Rouse, N, Agarwal, P, Dolinsky, V W & Bakovic, M 2020, ' Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration ', Brain : a journal of neurology, vol. 143, no. 1, pp. 94-111 . https://doi.org/10.1093/brain/awz376
Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac0861f3b693c401a937475d42f4898
https://doi.org/10.1093/brain/awz376
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