Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jenna R. Martin"'
Autor:
Diana C. Beard, Xiyun Zhang, Dennis Y. Wu, Jenna R. Martin, Alyssa Erickson, Jane Valeriane Boua, Nicole Hamagami, Raylynn G. Swift, Katherine B. McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Cory W. Palmer, Nicole A. Fuhler, Austin B. Lawrence, Cheryl A. Hill, Thomas Papouin, Kevin K. Noguchi, Audrey McAlinden, Joel R. Garbow, Joseph D. Dougherty, Susan E. Maloney, Harrison W. Gabel
Publikováno v:
Cell Reports, Vol 42, Iss 11, Pp 113411- (2023)
Summary: Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood. Here, we investigate
Externí odkaz:
https://doaj.org/article/48fc308841a24ec68b568d4410c3c83e
Autor:
Amanda M. Smith, Taylor A. LaValle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Germline mutations in the DNMT3A gene can cause an overgrowth syndrome associated with behavioural and hematopoietic phenotypes. Here the authors describe a mouse model of this syndrome that recapitulates many of these features, including conserved a
Externí odkaz:
https://doaj.org/article/5e0d8e3763324ed0920eb1d6b6fbeadf
Autor:
Haixin Liu, Riccardo Melani, Akhila Sankaramanchi, Ruoheng Zeng, Marta Maltese, Jenna R. Martin, Nicolas X. Tritsch
Dopamine is essential for the production of vigorous movements, but how dopamine modifies the gain of motor commands remains unclear. Here, we developed a dexterous motor task in which head-restrained mice self-initiate fast and large-amplitude lever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::427ef9af8dc4e670ae5d5797d461e4bb
https://doi.org/10.1101/2022.11.03.514328
https://doi.org/10.1101/2022.11.03.514328
Autor:
Nicole M. Kirkland, Sharon Heath, Francesca Ferraro, Haley J. Abel, Christopher A. Miller, Jenna R. Martin, David Y. Chen, Harrison W. Gabel, Clay F. Semenkovich, Sai Mukund Ramakrishnan, Taylor A. LaValle, Cheryl A. Hill, Michael P. Rettig, Sangeeta Adak, Amanda Smith, Marwan Shinawi, Nichole M. Helton, Timothy J. Ley, Diana L. Christian
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communications
Nature Communications
Germline pathogenic variants in DNMT3A were recently described in patients with overgrowth, obesity, behavioral, and learning difficulties (DNMT3A Overgrowth Syndrome/DOS). Somatic mutations in the DNMT3A gene are also the most common cause of clonal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2971b39c011fd13e4e18717a586379c
https://doi.org/10.1038/s41467-021-24800-7
https://doi.org/10.1038/s41467-021-24800-7
Autor:
Joseph D. Dougherty, Adam W. Clemens, Jenna R. Martin, Y. Liu, Nicole M. Kirkland, Sabin A. Nettles, J. Russell Moore, Cheryl A. Hill, David F. Wozniak, Diana L. Christian, Harrison W. Gabel, Dennis Y. Wu
SummaryMutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and related disorders, but how these mutations disrupt nervous system function is unknown. Here we define the effects of neurodevelopmental disease-associated DNMT3A m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87e6b4bbf07447be55610a1a38fbe3dc
https://doi.org/10.1101/2020.07.10.195859
https://doi.org/10.1101/2020.07.10.195859
Autor:
Dennis Y. Wu, Jenna R. Martin, David F. Wozniak, Thomas Papouin, Sabin A. Nettles, Joseph D. Dougherty, Cheryl A. Hill, J. Russell Moore, Adam W. Clemens, Diana L. Christian, Y. Liu, Harrison W. Gabel, Nicole M. Kirkland
Publikováno v:
Cell reports
SUMMARY Mutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and related disorders, but how these mutations disrupt nervous system function is unknown. Here, we define the effects of DNMT3A mutations associated with neurodevelo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e5e6ea4b5612b4ecf7cd96996e77df
https://doi.org/10.1016/j.celrep.2020.108416
https://doi.org/10.1016/j.celrep.2020.108416