Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Jonathan M Downie"'
1
Akademický článek
Evolutionary history of Tibetans inferred from whole-genome sequencing.
Autor: Hao Hu, Nayia Petousi, Gustavo Glusman, Yao Yu, Ryan Bohlender, Tsewang Tashi, Jonathan M Downie, Jared C Roach, Amy M Cole, Felipe R Lorenzo, Alan R Rogers, Mary E Brunkow, Gianpiero Cavalleri, Leroy Hood, Sama M Alpatty, Josef T Prchal, Lynn B Jorde, Peter A Robbins, Tatum S Simonson, Chad D Huff
Publikováno v: PLoS Genetics, Vol 13, Iss 4, p e1006675 (2017)
The indigenous people of the Tibetan Plateau have been the subject of much recent interest because of their unique genetic adaptations to high altitude. Recent studies have demonstrated that the Tibetan EPAS1 haplotype is involved in high altitude-ad
Externí odkaz: https://doaj.org/article/e875a2762e1049a8876383e267b627a5
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2
Akademický článek
A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.
Autor: Jonathan M Downie, Tsewang Tashi, Felipe Ramos Lorenzo, Julie Ellen Feusier, Hyder Mir, Josef T Prchal, Lynn B Jorde, Parvaiz A Koul
Publikováno v: PLoS ONE, Vol 11, Iss 8, p e0160614 (2016)
The Kashmiri population is an ethno-linguistic group that resides in the Kashmir Valley in northern India. A longstanding hypothesis is that this population derives ancestry from Jewish and/or Greek sources. There is historical and archaeological evi
Externí odkaz: https://doaj.org/article/70e2ec626c534578ae7d127c6ec96488
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3
Akademický článek
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Autor: Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B Wilfert, Juncheng Dai, Jonathan M Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E Hurles, Sergey Moskovtsev, Carole Ober, Darius A Paduch, Joshua D Schiffman, Peter N Schlegel, Mário Sousa, Douglas T Carrell, Donald F Conrad
Publikováno v: PLoS Genetics, Vol 9, Iss 3, p e1003349 (2013)
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population. We hypothesized that men with spermatogenic impairment, a disease with unknown
Externí odkaz: https://doaj.org/article/5383f18dc378453d957ccd91be808516
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6
Pathogenic Effect ofTP73Gene Variants in People With Amyotrophic Lateral Sclerosis
Autor: Joshua L. Bonkowsky, Spyridoula Tsetsou, Jerry A. Duran, L. Charles Murtaugh, Karla P. Figueroa, Kristi L. Russell, Mark B. Bromberg, Summer Gibson, Stefan M. Pulst, Matthew D. Keefe, Jonathan M. Downie, Lynn B. Jorde
Publikováno v: Neurology. 97:e225-e235
ObjectiveTo identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we used sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified inTP73.MethodsWe analyzed exome se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54e965063455a60d78fd589eb5814976
https://doi.org/10.1212/wnl.0000000000012285
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7
Incident Cancer Risk and Signatures Among Older MUTYH Carriers: Analysis of Population-Based and Genomic Cohorts
Autor: Jonathan M. Downie, Moeen Riaz, Jing Xie, Minyi Lee, Andrew T. Chan, Peter Gibbs, Suzanne G. Orchard, Suzanne E. Mahady, Robert P. Sebra, Anne M. Murray, Finlay Macrae, Eric Schadt, Robyn L. Woods, John J. McNeil, Paul Lacaze, Manish Gala
Publikováno v: Cancer Prev Res (Phila)
MUTYH carriers have an increased colorectal cancer risk in case–control studies, with loss of heterozygosity (LOH) as the presumed mechanism. We evaluated cancer risk among carriers in a prospective, population-based cohort of older adults. In addi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a94e94e18019def7a5ab8210f0f472
https://europepmc.org/articles/PMC9356994/
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8
MFN2 Influences Amyotrophic Lateral Sclerosis Pathology
Autor: Cody J. Steely, Mark B. Bromberg, Kristi L. Russell, Lynn B. Jorde, Karla P. Figueroa, Stefan M. Pulst, Summer Gibson, Jonathan M. Downie, L. Charles Murtaugh
ObjectiveTo better understand the pathology of amyotrophic lateral sclerosis, we used sequence data from patients seen at the University of Utah to identify novel disease-associated loci. We utilized both in vitro and in vivo studies to determine the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dedbcc85e85837bc4c0241f54f9c6ca6
https://doi.org/10.1101/2021.10.30.466517
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