Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emily Y. Smith"'
Autor:
Michael Doney, Ying-Chen Claire Hou, Pamila Brar, Bradley A. Perkins, Emily Y. Smith, Lori A. Napier, Christina Rybak, David S. Karow, C. Thomas Caskey, Weizhong Li, Keegan Duchicela, Saints Dominguez, Robyn Heister, Natalie M. Schenker-Ahmed, Richard J. Martin, Andrew M. Kahn, J. Craig Venter, Haibao Tang, Hung-Chun Yu, Christine Leon Swisher, Thomas J. Jönsson, Elizabeth T. Cirulli, Michael Hicks, Ewen F. Kirkness, Jaime Barea, Isaac V. Cohen, Nathaniel Hernandez
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance To understand the value and clinical impact of surveying genome-wide disease-causing genes and variants, we used a prospective cohort study design that enrolled volunteers who agreed to have their whole genome sequenced and to participat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bc5b22481826fc594923514599700f
https://doi.org/10.1073/pnas.1909378117
https://doi.org/10.1073/pnas.1909378117
Autor:
Emily Y Smith, Christopher R Futtner, Stormy J Chamberlain, Karen A Johnstone, James L Resnick
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002422 (2011)
The Prader-Willi syndrome (PWS [MIM 17620]) and Angelman syndrome (AS [MIM 105830]) locus is controlled by a bipartite imprinting center (IC) consisting of the PWS-IC and the AS-IC. The most widely accepted model of IC function proposes that the PWS-
Externí odkaz:
https://doaj.org/article/018093a7b8d946a0a8ba44364d3deba4
Autor:
Rybak C, Haibao Tang, Andrew M. Kahn, Barea J, Venter Jc, Michael Hicks, Thomas J. Jönsson, Caskey Ct, Robyn Heister, Pamila Brar, Ewen F. Kirkness, Hung-Chun Yu, Duchicela K, Christine Leon Swisher, Dominguez S, Weizhong Li, Elizabeth T. Cirulli, Doney M, Lori A. Napier, Natalie M. Schenker-Ahmed, Richard J. Martin, David S. Karow, Hernandez N, Cohen, Emily Y. Smith, Ying-Chen Claire Hou
We report the results of a three-year precision medicine study that enrolled 1190 presumed healthy participants at a single research clinic. To enable a better assessment of disease risk and improve diagnosis, a precision health platform that integra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aeec2e45cc7528ba7686474661325ab
Autor:
Brian N. Finck, Daniel P. Kelly, Teresa C. Leone, Julio E. Ayala, Zhenji Gan, Emily Y. Smith, Dong-Ho Han, Eileen M. Burkart-Hartman, John O. Holloszy
Publikováno v:
Genes & Development. 25:2619-2630
To identify new gene regulatory pathways controlling skeletal muscle energy metabolism, comparative studies were conducted on muscle-specific transgenic mouse lines expressing the nuclear receptors peroxisome proliferator-activated receptor α (PPAR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6584e87f6a594e6904fcb97e02da033
https://doi.org/10.1101/gad.178434.111
https://doi.org/10.1101/gad.178434.111
Publikováno v:
neurogenetics. 11:145-151
Mutations affecting a cluster of coordinately regulated imprinted genes located at 15q11-q13 underlie both Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Disruption of the predominately maternally expressed UBE3A locus is sufficient to meet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bbb1484e323e3effd68bdbcb104b34
https://doi.org/10.1007/s10048-009-0226-9
https://doi.org/10.1007/s10048-009-0226-9
Autor:
Emily Y, Smith, James L, Resnick
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 925
Primordial germ cells (PGCs) play essential roles in both reproduction and development. In this chapter, we describe a method used in our laboratory for the immunopurification of PGCs from the mouse embryo. After dissection and disruption of the feta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::187fa252b7f3506414894f6b27a05bac
https://pubmed.ncbi.nlm.nih.gov/22907490
https://pubmed.ncbi.nlm.nih.gov/22907490
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 109(9)
Imprinted gene expression associated with Prader–Willi syndrome (PWS) and Angelman syndrome (AS) is controlled by two imprinting centers (ICs), the PWS-IC and the AS-IC. The PWS-IC operates in cis to activate transcription of genes that are express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65de55ddeb2a37d02a20d6d1ce203883
https://pubmed.ncbi.nlm.nih.gov/22331910
https://pubmed.ncbi.nlm.nih.gov/22331910
Autor:
Emily Y. Smith, James L. Resnick
Publikováno v:
Methods in Molecular Biology ISBN: 9781627030106
Primordial germ cells (PGCs) play essential roles in both reproduction and development. In this chapter, we describe a method used in our laboratory for the immunopurification of PGCs from the mouse embryo. After dissection and disruption of the feta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::426d09b9b97ec7dfdccd4951090f2f46
https://doi.org/10.1007/978-1-62703-011-3_4
https://doi.org/10.1007/978-1-62703-011-3_4
The human chromosomal 15q11-15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal gene expression leads to Ange
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f4cb56de4057af0a246d2bfc2da5dd
https://europepmc.org/articles/PMC3153308/
https://europepmc.org/articles/PMC3153308/