Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Adam F. Johnson"'
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
Autor:
Nazario Bosco, Aleah Goldberg, Adam F Johnson, Xin Zhao, Joseph C Mays, Pan Cheng, Joy J Bianchi, Cecilia Toscani, Lizabeth Katsnelson, Dania Annuar, Sally Mei, Roni E Faitelson, Ilan Y Pesselev, Kareem S Mohamed, Angela Mermerian, Elaine M Camacho-Hernandez, Courtney A Gionco, Julie Manikas, Yi-Shuan Tseng, Zhengxi Sun, Somayeh Fani, Sarah Keegan, Scott M Lippman, David Fenyö, Stefano Santaguida, Teresa Davoli
SUMMARYAneuploidy, the presence of chromosome gains or losses, is a hallmark of cancer and congenital syndromes. Here, we describe KaryoCreate (Karyotype CRISPR Engineered Aneuploidy Technology), a system that enables generation of chromosome-specifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53a9038aae5b26815a1aa473419316bd
https://doi.org/10.1101/2022.09.27.509580
https://doi.org/10.1101/2022.09.27.509580
Publikováno v:
Biological Reviews. 94:1774-1785
Haploinsufficiency is a form of genetic dominance and is the underlying mechanism of numerous human inherited conditions in which the causal genes are sensitive to altered dosage. This review examines the poorly understood relationships between haplo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37f3b18efd9d98cd0000a877c0da786
https://doi.org/10.1111/brv.12527
https://doi.org/10.1111/brv.12527
Autor:
Adam F. Johnson, Linh T Ngo
Publikováno v:
Human mutationREFERENCES. 41(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c30a72e2e501a0ef4fa99d1ef7e1a0ef
https://pubmed.ncbi.nlm.nih.gov/33244835
https://pubmed.ncbi.nlm.nih.gov/33244835
Autor:
Jianlin Cheng, Xiaowen Shi, James A. Birchler, Soliman Islam, Jie Hou, Adam F. Johnson, Chen Chen, Hua Yang, Tieming Ji
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao. 47(2)
Aneuploidy has profound effects on an organism, typically more so than polyploidy, and the basis of this contrast is not fully understood. A dosage series of the maize long arm of chromosome 1 (1L) was used to compare relative global gene expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1628834b4f07ed95a9d5b79c77dde8
https://pubmed.ncbi.nlm.nih.gov/32178980
https://pubmed.ncbi.nlm.nih.gov/32178980
Autor:
Jie, Hou, Xiaowen, Shi, Chen, Chen, Md Soliman, Islam, Adam F, Johnson, Tatsuo, Kanno, Bruno, Huettel, Ming-Ren, Yen, Fei-Man, Hsu, Tieming, Ji, Pao-Yang, Chen, Marjori, Matzke, Antonius J M, Matzke, Jianlin, Cheng, James A, Birchler
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance The phenomenon of genetic balance is characterized by the finding that addition or subtraction of a single chromosome to the whole set is more detrimental than altering the dosage of the complete complement. The molecular basis of this p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d21daec8e36b2fca7962990c669a59aa
https://pubmed.ncbi.nlm.nih.gov/30429332
https://pubmed.ncbi.nlm.nih.gov/30429332
Autor:
Marjori Matzke, Bruno Huettel, Jie Hou, Chen Chen, Adam F. Johnson, Xiaowen Shi, Antonius J. M. Matzke, Tatsuo Kanno, Jianlin Cheng, Tieming Ji, Ming-Ren Yen, Fei-Man Hsu, Md. Soliman Islam, James A. Birchler, Pao-Yang Chen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Changes in dosage of part of the genome (aneuploidy) have long been known to produce much more severe phenotypic consequences than changes in the number of whole genomes (ploidy). To examine the basis of these differences, global gene expression in m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b56c844be54d4148c35449589410692
https://doi.org/10.1073/pnas.1807796115
https://doi.org/10.1073/pnas.1807796115
Publikováno v:
Plant Science
Plant Science, Elsevier, 2016, 245, pp.128-34. ⟨10.1016/j.plantsci.2016.02.002⟩
Plant Science, Elsevier, 2016, 245, pp.128-34. ⟨10.1016/j.plantsci.2016.02.002⟩
International audience; While most mutations are recessive, variants that affect quantitative traits are largely semi-dominant in their action making hybrids between divergent genotypes intermediate. In parallel, changes in chromosomal dosage (aneupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5bc14783d02cc4ac655acb4fdbd06ef
https://pubmed.ncbi.nlm.nih.gov/26940497
https://pubmed.ncbi.nlm.nih.gov/26940497
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 110(41)
Global analysis of gene expression via RNA sequencing was conducted for trisomics for the left arm of chromosome 2 (2L) and compared with the normal genotype. The predominant response of genes on 2L was dosage compensation in that similar expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95cc1188a812927978ad8caa7e8d49d4
https://pubmed.ncbi.nlm.nih.gov/24062456
https://pubmed.ncbi.nlm.nih.gov/24062456
Dosage compensation, the equalized X chromosome gene expression between males and females in Drosophila , has also been found in triple X metafemales. Inverse dosage effects, produced by genomic imbalance, are believed to account for this modulated e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28f32b93c285c5e79cc9288e39f7829
https://europepmc.org/articles/PMC3645549/
https://europepmc.org/articles/PMC3645549/