Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elena Ghiban"'
Autor:
Timour Baslan, John P. Morris, Zhen Zhao, Jose Reyes, Yu-Jui Ho, Kaloyan M. Tsanov, Jonathan Bermeo, Sha Tian, Sean Zhang, Gokce Askan, Aslihan Yavas, Nicolas Lecomte, Amanda Erakky, Anna M. Varghese, Amy Zhang, Jude Kendall, Elena Ghiban, Lubomir Chorbadjiev, Jie Wu, Nevenka Dimitrova, Kalyani Chadalavada, Gouri J. Nanjangud, Chaitanya Bandlamudi, Yixiao Gong, Mark T. A. Donoghue, Nicholas D. Socci, Alex Krasnitz, Faiyaz Notta, Steve D. Leach, Christine A. Iacobuzio-Donahue, Scott W. Lowe
Publikováno v:
Nature. 608:795-802
Although p53 inactivation promotes genomic instability1 and presents a route to malignancy for more than half of all human cancers2,3, the patterns through which heterogenous TP53 (encoding human p53) mutant genomes emerge and influence tumorigenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d92e4faced4f3453550dbf42fecb004
https://doi.org/10.1038/s41586-022-05082-5
https://doi.org/10.1038/s41586-022-05082-5
Autor:
Niamh M, Ryan, Jayon, Lihm, Melissa, Kramer, Shane, McCarthy, Stewart W, Morris, Aleix, Arnau-Soler, Gail, Davies, Barbara, Duff, Elena, Ghiban, Caroline, Hayward, Ian J, Deary, Douglas H R, Blackwood, Stephen M, Lawrie, Andrew M, McIntosh, Kathryn L, Evans, David J, Porteous, W Richard, McCombie, Pippa A, Thomson
Publikováno v:
Molecular Psychiatry
Psychiatric disorders are a group of genetically related diseases with highly polygenic architectures. Genome-wide association analyses have made substantial progress towards understanding the genetic architecture of these disorders. More recently, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a2ae036c51b2f86d1f10829e0e605599
https://pubmed.ncbi.nlm.nih.gov/29880880
https://pubmed.ncbi.nlm.nih.gov/29880880
Autor:
Jayon Lihm, Shane McCarthy, Eric Kelleher, Elena Ghiban, Carol O'Brien, Aiden Corvin, Jesse Gillis, Melissa Kramer, Rebecca Solomon, Seungtai Yoon, Paul Pavlidis, Meeta Mistry, Michael Gill, Derek W. Morris, Eric Antoniou, W R McCombie, Berstein Y, Gary Donohoe
Publikováno v:
Molecular psychiatry
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and autism have reinforced the hypothesis that rare genetic variation contributes to risk. We ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e542b0affc714f9d731d443b3e40b591
https://doi.org/10.1038/mp.2014.29
https://doi.org/10.1038/mp.2014.29
Autor:
David J. Porteous, J. Kirsty Millar, Stephen M. Lawrie, Pippa A. Thomson, Kathryn L. Evans, Jayon Lihm, W. Richard McCombie, Andrew M. McIntosh, Douglas Blackwood, Elena Ghiban, Melissa Kramer, Niamh M. Ryan, Generation Scotland, Shane McCarthy
Publikováno v:
European Neuropsychopharmacology. 29:S890
Background Psychiatric illnesses are a group of genetically-related disorders with highly polygenic architecture and a significant environmental component. Even within families, these conditions show the attributes of many complex traits: reduced pen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca77b1d104d2a9b80736238f52db739a
https://doi.org/10.1016/j.euroneuro.2017.08.196
https://doi.org/10.1016/j.euroneuro.2017.08.196
Autor:
Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska
Publikováno v:
Neuron. 74(2):285-299
SummaryExome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436dac00dfb388b306cc1884918b76cf
Autor:
Douglas Blackwood, Melissa Kramer, Shane McCarthy, S. W. Morris, Ian J. Deary, David J. Porteous, Jianchao Yao, Jennifer Parla, James D. Watson, S Cass, Dinesh C. Soares, J. K. Millar, Andrew M. McIntosh, D Rebolini, W. R. McCombie, John M. Starr, Kathryn L. Evans, Peter M. Visscher, Donald J. MacIntyre, Sarah E. Harris, L Cardone, Pippa A. Thomson, Elena Ghiban, Allan F. McRae, William Hennah, K Ramakrishnan
Publikováno v:
Thomson, P A, Parla, J S, McRae, A F, Kramer, M, Ramakrishnan, K, Yao, J, Soares, D C, McCarthy, S, Morris, S W, Cardone, L, Cass, S, Ghiban, E, Hennah, W, Evans, K L, Rebolini, D, Millar, J K, Harris, S E, Starr, J M, MacIntyre, D J, McIntosh, A M, Watson, J D, Deary, I J, Visscher, P M, Blackwood, D H & McCombie, W R & Porteous, D J 2014, ' 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects : analysis for association with psychiatric disorder and cognitive traits ', Molecular Psychiatry, vol. 19, no. 6, pp. 668-675 . https://doi.org/10.1038/mp.2013.68
Molecular Psychiatry
Molecular Psychiatry
A balanced t(1;11) translocation that transects the Disrupted in schizophrenia 1 (DISC1) gene shows genome-wide significant linkage for schizophrenia and recurrent major depressive disorder (rMDD) in a single large Scottish family, but genome-wide an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f1092d8430871bc8d1d9a22fbb74f8d
https://www.pure.ed.ac.uk/ws/files/8303454/708_Common_and_2010_rare_DISC1_locus_variants_identified_in_1542_subjects_analysis_for_association_with_psychiatric_disorder_and_cognitive_traits.pdf
https://www.pure.ed.ac.uk/ws/files/8303454/708_Common_and_2010_rare_DISC1_locus_variants_identified_in_1542_subjects_analysis_for_association_with_psychiatric_disorder_and_cognitive_traits.pdf
Autor:
Mark Wright, Jer Ming Chia, Elena Ghiban, Joshua C. Stein, Eric Antonio, James Gurtowski, Doreen Ware, Lyza G. Maron, Alejandro Hernandez Wences, W. Richard McCombie, Hayan Lee, Susan R. McCouch, Eric Biggers, Michael C. Schatz, Melissa Kramer
The use of high throughput genome-sequencing technologies has uncovered a large extent of structural variation in eukaryotic genomes that makes important contributions to genomic diversity and phenotypic variation. Currently, when the genomes of diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1592922a37d093ef217a569763fa93f9
https://doi.org/10.1101/003764
https://doi.org/10.1101/003764
Autor:
Eric Antoniou, Lyza G. Maron, Melissa Kramer, Elena Ghiban, Eric Biggers, Alejandro Hernandez Wences, Hayan Lee, Susan R. McCouch, Doreen Ware, Mark Wright, James Gurtowski, Jer Ming Chia, Michael C. Schatz, W. Richard McCombie, Joshua C. Stein
Publikováno v:
Genome Biology
Background The use of high throughput genome-sequencing technologies has uncovered a large extent of structural variation in eukaryotic genomes that makes important contributions to genomic diversity and phenotypic variation. When the genomes of diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcd4da662c7c6e6471b0e491431f7d1