Zobrazeno 1 - 10
of 137
pro vyhledávání: '"M Elizabeth Ross"'
Publikováno v:
eLife, Vol 8 (2019)
Occludin (OCLN) mutations cause human microcephaly and cortical malformation. A tight junction component thought absent in neuroepithelium after neural tube closure, OCLN isoform-specific expression extends into corticogenesis. Full-length and trunca
Externí odkaz:
https://doaj.org/article/de08fbcff580431da90e40cbe25343bc
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92207 (2014)
Spina bifida is one of the most common neural tube defects (NTDs) with a complex etiology. Variants in planar cell polarity (PCP) genes have been associated with NTDs including spina bifida in both animal models and human cohorts. In this study, we s
Externí odkaz:
https://doaj.org/article/af74130fef6b44a7a6fbb7ddad812d93
Autor:
Inna Dubchak, Sandhya Balasubramanian, Sheng Wang, Meydan Cem, Dinanath Sulakhe, Alexander Poliakov, Daniela Börnigen, Bingqing Xie, Andrew Taylor, Jianzhu Ma, Alex R Paciorkowski, Ghayda M Mirzaa, Paul Dave, Gady Agam, Jinbo Xu, Lihadh Al-Gazali, Christopher E Mason, M Elizabeth Ross, Natalia Maltsev, T Conrad Gilliam
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e114903 (2014)
An essential step in the discovery of molecular mechanisms contributing to disease phenotypes and efficient experimental planning is the development of weighted hypotheses that estimate the functional effects of sequence variants discovered by high-t
Externí odkaz:
https://doaj.org/article/7a98642da2014259af2beccf0a35c397
Autor:
Isidora Stankovic, Michael Notaras, Paul Wolujewicz, Tyler Lu, Raphael Lis, M. Elizabeth Ross, Dilek Colak
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Schizophrenia (SCZ) is a complex neurodevelopmental disorder characterized by the manifestation of psychiatric symptoms in early adulthood. While many research avenues into the origins of SCZ during brain development have been explored, the
Externí odkaz:
https://doaj.org/article/035ae9ad1c6b4a3592e4af5190b5ac93
Autor:
Yunping Lei, Huiping Zhu, Cody Duhon, Wei Yang, M Elizabeth Ross, Gary M Shaw, Richard H Finnell
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69262 (2013)
Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations
Externí odkaz:
https://doaj.org/article/83129a6d3bf04ad9993699b99d5a5199
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Regulation of Rho GTPases remains a topic of active investigation as they are essential participants in cell biology and the pathophysiology of many human diseases. Non-degrading ubiquitination (NDU) is a critical regulator of the Ras superf
Externí odkaz:
https://doaj.org/article/2792a4053c324dc298cd8b50dcc9bc7d
Autor:
Xiao Han, Xuanye Cao, Vanessa Aguiar‐Pulido, Wei Yang, Menuka Karki, Paula Andrea Pimienta Ramirez, Robert M. Cabrera, Ying Linda Lin, Bogdan J. Wlodarczyk, Gary M. Shaw, M. Elizabeth Ross, Cuilian Zhang, Richard H. Finnell, Yunping Lei
Publikováno v:
Human Mutation. 43:2021-2032
Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of
Autor:
A. Rouf Banday, Megan L. Stanifer, Oscar Florez-Vargas, Olusegun O. Onabajo, Brenen W. Papenberg, Muhammad A. Zahoor, Lisa Mirabello, Timothy J. Ring, Chia-Han Lee, Paul S. Albert, Evangelos Andreakos, Evgeny Arons, Greg Barsh, Leslie G. Biesecker, David L. Boyle, Mark S. Brahier, Andrea Burnett-Hartman, Mary Carrington, Euijin Chang, Pyoeng Gyun Choe, Rex L. Chisholm, Leandro M. Colli, Clifton L. Dalgard, Carolynn M. Dude, Jeff Edberg, Nathan Erdmann, Heather S. Feigelson, Benedito A. Fonseca, Gary S. Firestein, Adam J. Gehring, Cuncai Guo, Michelle Ho, Steven Holland, Amy A. Hutchinson, Hogune Im, Les’Shon Irby, Michael G. Ison, Naima T. Joseph, Hong Bin Kim, Robert J. Kreitman, Bruce R. Korf, Steven M. Lipkin, Siham M. Mahgoub, Iman Mohammed, Guilherme L. Paschoalini, Jennifer A. Pacheco, Michael J. Peluso, Daniel J. Rader, David T. Redden, Marylyn D. Ritchie, Brooke Rosenblum, M. Elizabeth Ross, Hanaisa P. Sant Anna, Sharon A. Savage, Sudha Sharma, Eleni Siouti, Alicia K. Smith, Vasiliki Triantafyllia, Joselin M. Vargas, Jose D. Vargas, Anurag Verma, Vibha Vij, Duane R. Wesemann, Meredith Yeager, Xu Yu, Yu Zhang, Steeve Boulant, Stephen J. Chanock, Jordan J. Feld, Ludmila Prokunina-Olsson
Publikováno v:
Nature Genetics. 54:1103-1116
The chr12q24.13 locus encoding OAS1–OAS3 antiviral proteins has been associated with coronavirus disease 2019 (COVID-19) susceptibility. Here, we report genetic, functional and clinical insights into this locus in relation to COVID-19 severity. In
Autor:
Simon A. Hardwick, Wen Hu, Anoushka Joglekar, Li Fan, Paul G. Collier, Careen Foord, Jennifer Balacco, Samantha Lanjewar, Maureen McGuirk Sampson, Frank Koopmans, Andrey D. Prjibelski, Alla Mikheenko, Natan Belchikov, Julien Jarroux, Anne Bergstrom Lucas, Miklós Palkovits, Wenjie Luo, Teresa A. Milner, Lishomwa C. Ndhlovu, August B. Smit, John Q. Trojanowski, Virginia M. Y. Lee, Olivier Fedrigo, Steven A. Sloan, Dóra Tombácz, M. Elizabeth Ross, Erich Jarvis, Zsolt Boldogkői, Li Gan, Hagen U. Tilgner
Publikováno v:
Nature Biotechnology, 40(7), 1082-1092. Nature Publishing Group
Hardwick, S A, Hu, W, Joglekar, A, Fan, L, Collier, P G, Foord, C, Balacco, J, Lanjewar, S, Sampson, M M G, Koopmans, F, Prjibelski, A D, Mikheenko, A, Belchikov, N, Jarroux, J, Lucas, A B, Palkovits, M, Luo, W, Milner, T A, Ndhlovu, L C, Smit, A B, Trojanowski, J Q, Lee, V M Y, Fedrigo, O, Sloan, S A, Tombácz, D, Ross, M E, Jarvis, E, Boldogkői, Z, Gan, L & Tilgner, H U 2022, ' Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue ', Nature Biotechnology, vol. 40, no. 7, pp. 1082-1092 . https://doi.org/10.1038/s41587-022-01231-3
Hardwick, S A, Hu, W, Joglekar, A, Fan, L, Collier, P G, Foord, C, Balacco, J, Lanjewar, S, Sampson, M M G, Koopmans, F, Prjibelski, A D, Mikheenko, A, Belchikov, N, Jarroux, J, Lucas, A B, Palkovits, M, Luo, W, Milner, T A, Ndhlovu, L C, Smit, A B, Trojanowski, J Q, Lee, V M Y, Fedrigo, O, Sloan, S A, Tombácz, D, Ross, M E, Jarvis, E, Boldogkői, Z, Gan, L & Tilgner, H U 2022, ' Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue ', Nature Biotechnology, vol. 40, no. 7, pp. 1082-1092 . https://doi.org/10.1038/s41587-022-01231-3
Single-nuclei RNA sequencing characterizes cell types at the gene level. However, compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack barcodes and hinder the study of isoforms. Here we present single-nuclei isoform
Autor:
Anoushka Joglekar, Wen Hu, Bei Zhang, Oleksandr Narykov, Mark Diekhans, Jennifer Balacco, Lishomwa C Ndhlovu, Teresa A Milner, Olivier Fedrigo, Erich D Jarvis, Gloria Sheynkman, Dmitry Korkin, M. Elizabeth Ross, Hagen U. Tilgner
RNA isoforms influence cell identity and function. Until recently, technological limitations prevented a genome-wide appraisal of isoform influence on cell identity in various parts of the brain. Using enhanced long-read single-cell isoform sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00cf03d4f20784df665358b6066d9981
https://doi.org/10.1101/2023.04.02.535281
https://doi.org/10.1101/2023.04.02.535281