Evaluation of mitochondrial DNA copy number estimation techniques.

Autor: Ryan J Longchamps, Christina A Castellani, Stephanie Y Yang, Charles E Newcomb, Jason A Sumpter, John Lane, Megan L Grove, Eliseo Guallar, Nathan Pankratz, Kent D Taylor, Jerome I Rotter, Eric Boerwinkle, Dan E Arking

Publikováno v: PLoS ONE, Vol 15, Iss 1, p e0228166 (2020)

Mitochondrial DNA copy number (mtDNA-CN), a measure of the number of mitochondrial genomes per cell, is a minimally invasive proxy measure for mitochondrial function and has been associated with several aging-related diseases. Although quantitative r

Externí odkaz: https://doaj.org/article/cb9b6ad000f4447981ff3b7c5166580f

Simultaneous assessment of mitochondrial DNA copy number and nuclear epigenetic age towards predictive models of development and aging

Autor: Phyo W. Win, Julia Nyugen, Amanda L. Morin, Charles E. Newcomb, Shiva M. Singh, Noha Gomaa, Christina A. Castellani

Publikováno v: BMC Research Notes, Vol 17, Iss 1, Pp 1-6 (2024)

Abstract Objective Mitochondrial dysfunction and nuclear epigenetic alterations, two hallmarks of aging, are associated with aberrant development and complex disease risk. Here, we report a method for the simultaneous assessment of mitochondrial DNA

Externí odkaz: https://doaj.org/article/7e75765013594295828e5a9c26434cac

Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder

Autor: Bonnie L. J. Alberry, Christina A. Castellani, Shiva M. Singh

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-16 (2020)

Abstract Background Fetal alcohol spectrum disorders (FASD) are common, seen in 1–5% of the population in the USA and Canada. Children diagnosed with FASD are not likely to remain with their biological parents, facing early maternal separation and

Externí odkaz: https://doaj.org/article/4bf0ae8257d44c68ba53ee239588b1fa

Epigenome-wide association study of mitochondrial genome copy number

Autor: Penglong Wang, Kent D. Taylor, Xianbang Sun, Xiuqing Guo, Jie Yao, JoAnn E. Manson, Jeffrey Haessler, Yongmei Liu, Alexander P. Reiner, Daniel Levy, Eric Boerwinkle, Jennifer A. Smith, David Van Den Berg, Dan E. Arking, Tuuli Lappalainen, Jan Bressler, Lifang Hou, Christina A. Castellani, Stephen S. Rich, Wei Zhao, Tianxiao Huan, Silva Kasela, Megan L. Grove, Chunyu Liu, Patricia A. Peyser, Jerome I. Rotter, Lawrence F. Bielak, Joehanes Roby, Charles Kooperberg, Myriam Fornage, Ryan J. Longchamps

Publikováno v: Hum Mol Genet

We conducted cohort- and race-specific epigenome-wide association analyses of mitochondrial deoxyribonucleic acid (mtDNA) copy number (mtDNA CN) measured in whole blood from participants of African and European origins in five cohorts (n = 6182, mean

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114263bbc14adc19536a3453c0ee3b6c
https://doi.org/10.1093/hmg/ddab240

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

Autor: Ryan J. Longchamps, Rozenn N. Lemaitre, Traci M. Bartz, Henning Tiemeier, Anna L. Guyatt, Nir Barzilai, A.G. Uitterlinden, A. C. Y. Mak, C M van Duijn, Eric Boerwinkle, Mary F. Feitosa, Stephen S. Rich, Rui Xia, Gil Atzmon, Santiago Rodriguez, Bruce M. Psaty, Dan E. Arking, Chloé Sarnowski, Jerome I. Rotter, Mark O. Goodarzi, Megan L. Grove, Jennifer A. Brody, Joanne M. Murabito, J.B. van Meurs, Mary K. Wojczynski, K. Ye, Aviv Bergman, Nona Sotoodehnia, Tom R. Gaunt, Le Yu, Nathan Pankratz, Myriam Fornage, Najaf Amin, Tim Kacprowski, Kathryn L. Lunetta, Ching-Ti Liu, Jingyun Yang, Kent D. Taylor, Fernando Rivadeneira, David A. Bennett, Kimberley Burrows, S. Y. Yang, Michael A. Province, Wei Shi, C. M. Sitlani, Laura M. Raffield, P. L. De Jager, Leslie A. Lange, Aldi T. Kraja, Linda Broer, John Lane, Christina A. Castellani

Publikováno v: Longchamps, R J, Yang, S Y, Castellani, C A, Shi, W, Lane, J, Grove, M L, Bartz, T M, Sarnowski, C, Liu, C, Burrows, K, Guyatt, A L, Gaunt, T R, Kacprowski, T, Yang, J, De Jager, P L, Yu, L, Bergman, A, Xia, R, Fornage, M, Feitosa, M F, Wojczynski, M K, Kraja, A T, Province, M A, Amin, N, Rivadeneira, F, Tiemeier, H, Uitterlinden, A G, Broer, L, Van Meurs, J B J, Van Duijn, C M, Raffield, L M, Lange, L, Rich, S S, Lemaitre, R N, Goodarzi, M O, Sitlani, C M, Mak, A C Y, Bennett, D A, Rodriguez, S, Murabito, J M, Lunetta, K L, Sotoodehnia, N, Atzmon, G, Ye, K, Barzilai, N, Brody, J A, Psaty, B M, Taylor, K D, Rotter, J I, Boerwinkle, E, Pankratz, N & Arking, D E 2022, ' Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation ', Human Genetics, vol. 141, no. 1, pp. 127-146 . https://doi.org/10.1007/s00439-021-02394-w
Paediatrics Publications
Human genetics, vol 141, iss 1
Human Genetics, 141(1), 127-146. Springer-Verlag
Human Genetics

Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271655c774846c1bff335569b9acbe6b
https://hdl.handle.net/1983/88fc5165-58e5-4d81-a3d0-6c2dc336580a