Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Mark T W, Ebbert"'
Autor:
Madeline L. Page, Elizabeth L. Vance, Matthew E. Cloward, Ed Ringger, Louisa Dayton, Mark T. W. Ebbert, The Alzheimer’s Disease Neuroimaging Initiative, Justin B. Miller, John S. K. Kauwe
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
The Polygenic Risk Score Knowledge Base (PRSKB) is a web-based interface that stores data from >2,300 distinct genome-wide association studies, and can estimate polygenic risk scores for general use.
Externí odkaz:
https://doaj.org/article/af7775579420442e90265c4df3a69094
Autor:
Mark T. W. Ebbert, Tanner D. Jensen, Karen Jansen-West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Veronique Belzil, Luc Pregent, Minerva M. Carrasquillo, Dirk Keene, Eric Larson, Paul Crane, Yan W. Asmann, Nilufer Ertekin-Taner, Steven G. Younkin, Owen A. Ross, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
Abstract Background The human genome contains “dark” gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that m
Externí odkaz:
https://doaj.org/article/e1a9587d951a4a8790ff8810d11b99d5
Autor:
Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-17 (2018)
Abstract Background Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotem
Externí odkaz:
https://doaj.org/article/2936e588eb3b4aff9a908adca66916b2
Autor:
Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G. Younkin, Dennis W. Dickson, Todd E. Golde, Nathan D. Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M. Goate, Christopher Corcoran, JoAnn Tschanz, Lisa A. Cannon-Albright, John S. K. Kauwe, for the Alzheimer’s Disease Neuroimaging Initiative
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-14 (2017)
Abstract Background While age and the APOE ε4 allele are major risk factors for Alzheimer’s disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without any clinical sy
Externí odkaz:
https://doaj.org/article/79ae97d9edf64993be49e1134e4de185
Autor:
Corinne E. Sexton, Mark T. W. Ebbert, Ryan H. Miller, Meganne Ferrel, Jo Ann T. Tschanz, Christopher D. Corcoran, Alzheimer’s Disease Neuroimaging Initiative, Perry G. Ridge, John S. K. Kauwe
Publikováno v:
International Journal of Genomics, Vol 2018 (2018)
Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and
Externí odkaz:
https://doaj.org/article/e918345e8be643acbd37886a0a0dcec4
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1346
Protein–protein functional interactions arise from either transitory or permanent biomolecular associations and often lead to the coevolution of the interacting residues. Although mutual information has traditionally been used to identify coevolvin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3693ed894b09e381fc161037bcc34934
Autor:
Brianna M, Doratt, Elizabeth, Vance, Delphine C, Malherbe, Mark T W, Ebbert, Ilhem, Messaoudi
Publikováno v:
Frontiers in Cellular and Infection Microbiology. 12
Ancestral RNA polymerase III (Pol III) is a multi-subunit polymerase responsible for transcription of short non-coding RNA, such as double-stranded short interspersed nuclear elements (SINEs). Although SINE ncRNAs are generally transcriptionally repr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115e23f13a5f5db274ca3a04dbc03702
https://doi.org/10.3389/fcimb.2022.943587
https://doi.org/10.3389/fcimb.2022.943587
Autor:
Leonard Petrucelli, Keith A. Josephs, Tania F. Gendron, Bjorn Oskarsson, Ronald C. Petersen, John D. Fryer, Neill R. Graff-Radford, David S. Knopman, Mark T. W. Ebbert, Eric D. Wieben, Ian J. McLaughlin, Ross A. Aleff, Jazmyne L. Jackson, Rosa Rademakers, Bradley F. Boeve, Marka van Blitterswijk, Nicole A. Finch, Dennis W. Dickson, Mariely DeJesus-Hernandez, Matt Baker, John Harting, Melissa E. Murray
Publikováno v:
Brain
To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41e708bb8f8534ca6335b9ea79417a0
https://doi.org/10.1093/brain/awab006
https://doi.org/10.1093/brain/awab006
Autor:
Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G. Younkin, Dennis W. Dickson, Todd E. Golde, Nathan D. Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M. Goate, Christopher Corcoran, JoAnn Tschanz, Lisa A. Cannon-Albright, John S. K. Kauwe, for the Alzheimer’s Disease Neuroimaging Initiative
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-1 (2018)
Correction The original version of this article [1] unfortunately contained a typographical error. The ‘Alzheimer’s Disease Neuroimaging Initiative’ was erroneously included as ‘Alzheimer’s Disease Neuroimaging Initative’ in the author li
Externí odkaz:
https://doaj.org/article/4a5950a661924d7d892311bf2dc09288
Autor:
Justin B Miller, Taylor E Meurs, Matthew W Hodgman, Benjamin Song, Kyle N Miller, Mark T W Ebbert, John S K Kauwe, Perry G Ridge
Publikováno v:
NAR genomics and bioinformatics. 4(2)
Ramp sequences occur when the average translational efficiency of codons near the 5′ end of highly expressed genes is significantly lower than the rest of the gene sequence, which counterintuitively increases translational efficiency by decreasing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79e33230f93bafac8dbde5760482ed0
https://pubmed.ncbi.nlm.nih.gov/35664804
https://pubmed.ncbi.nlm.nih.gov/35664804