Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Autor: Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis o

Externí odkaz: https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e

Estrogen Protects Optic Nerve Head Astrocytes Against Oxidative Stress by Preventing Caspase-3 Activation, Tau Dephosphorylation at Ser422 and the Formation of Tau Protein Aggregates

Autor: John C. Means, Peter Koulen, Adam A. Lopez

Publikováno v: Cellular and Molecular Neurobiology. 41:449-458

Glaucoma is a neurodegenerative disorder that leads to the slow degeneration of retinal ganglion cells, and results in damage to the optic nerve and concomitant vision loss. As in other disorders affecting the viability of central nervous system neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3b1a2ec7d20c4e6bd8a0e385dbbc0f40
https://doi.org/10.1007/s10571-020-00859-6

Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

Autor: Jeffrey J Johnston, Samantha N. Hartin, John C. Means, Scott T. Younger, Jasmine A. McQuerry, Tomi Pastinen, Merry Mclaird

Clinical whole genome sequencing has enabled the discovery of potentially pathogenic noncoding variants in the genomes of rare disease patients with a prior history of negative genetic testing. However, interpreting the functional consequences of non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c29905c8d8c613f74ec986906d8c68d
https://doi.org/10.1101/2021.11.02.21265771

Resveratrol Protects Optic Nerve Head Astrocytes from Oxidative Stress-Induced Cell Death by Preventing Caspase-3 Activation, Tau Dephosphorylation at Ser

Autor: John C, Means, Adam A, Lopez, Peter, Koulen

Publikováno v: Cell Mol Neurobiol

BACKGROUND: Optic nerve head astrocytes (ONHAs) are the major cell type within the optic nerve head, providing both structural and nutrient support to the optic nerve. Astrocytes are necessary for the survival of neurons with controlled activation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::54cd573d9b6c4bda3dd263b561845a10
https://pubmed.ncbi.nlm.nih.gov/31919747

Distinct Mechanisms Underlying Resveratrol-Mediated Protection from Types of Cellular Stress in C6 Glioma Cells

Autor: John C. Means, Peter Koulen, Bryan C Gerdes

Publikováno v: International Journal of Molecular Sciences, Vol 18, Iss 7, p 1521 (2017)
International Journal of Molecular Sciences; Volume 18; Issue 7; Pages: 1521
International Journal of Molecular Sciences

The polyphenolic phytostilbene, trans-resveratrol, is found in high amounts in several types and tissues of plants, including grapes, and has been proposed to have beneficial effects in the central nervous system due to its activity as an antioxidant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939a0cda42328d9262b6cada6f2ede51
https://www.mdpi.com/1422-0067/18/7/1521