Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Laura J Lambert"'
Autor:
Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, J Nicholas Cochran, Megan P Newton, Laura J Lambert, Robert A Kesterson, Richard M Myers, Gregory M Cooper, Erik D Roberson, Gregory S Barsh
Publikováno v:
PLoS Genetics, Vol 17, Iss 1, p e1009195 (2021)
Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease
Externí odkaz:
https://doaj.org/article/1c5bf50bee8445d4a52fbb32f5ccc14b
Autor:
Laura J. Lambert, Anil K. Challa, Aidi Niu, Lihua Zhou, Janusz Tucholski, Maria S. Johnson, Tim R. Nagy, Alan W. Eberhardt, Patrick N. Estep, Robert A. Kesterson, Jayleen M. Grams
Publikováno v:
Disease Models & Mechanisms, Vol 9, Iss 10, Pp 1169-1179 (2016)
Osteocalcin, also known as bone γ-carboxyglutamate protein (Bglap), is expressed by osteoblasts and is commonly used as a clinical marker of bone turnover. A mouse model of osteocalcin deficiency has implicated osteocalcin as a mediator of changes t
Externí odkaz:
https://doaj.org/article/4416ba08da51475b9e8b9c3f546ec6a0
Autor:
Linda Popplewell, Jeremy Foote, Alexis Hyde, Ludwine Messiaen, André Leier, Jamuna Selvakumaran, Marc Moore, Lukasz Ciszewski, Deeann Wallis, Hui Liu, Robert A. Kesterson, Laura J. Lambert, Michael Daniel, Bruce R. Korf, George Dickson
We investigated the feasibility of utilizing an exon skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin function. Human neurofibromi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::854de0420776f3d46c121c7426f87647
https://doi.org/10.21203/rs.3.rs-751331/v1
https://doi.org/10.21203/rs.3.rs-751331/v1
Autor:
Laura J. Lambert
Publikováno v:
The CRISPR journal. 3(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c883edc4959ea7959476f74bd7e1e08e
https://pubmed.ncbi.nlm.nih.gov/33346714
https://pubmed.ncbi.nlm.nih.gov/33346714
Autor:
Gregory S. Barsh, Yuliya Voskobiynyk, Megan P. Newton, Erik D. Roberson, Gregory M. Cooper, J. Nicholas Cochran, Stephanie A. Felker, Gopal Battu, Robert A. Kesterson, Laura J. Lambert, Richard M. Myers
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 1, p e1009195 (2021)
PLoS Genetics, Vol 17, Iss 1, p e1009195 (2021)
Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b981d0d811ab2b863cdd656a93bd699
https://pubmed.ncbi.nlm.nih.gov/33411776
https://pubmed.ncbi.nlm.nih.gov/33411776
Autor:
Stephanie A. Felker, Robert A. Kesterson, Laura J. Lambert, Greg M. Cooper, Richard M. Myers, Erik D. Roberson, Yuliya Voskobiynyk, M. P. Newton, Gregory S. Barsh, G. Battu, J. N. Cochran
Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c6f21ba21f83bb35151338cf6a9204d
https://doi.org/10.1101/2020.06.21.163428
https://doi.org/10.1101/2020.06.21.163428
Publikováno v:
Bio-protocol. 7(16)
Rat embryo transfer surgeries are becoming more common with targeted nucleases increasing the demand for rat models. This protocol details pre-surgical preparation, improved surgical techniques for placing embryos into the oviduct, and post-surgical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4706c2770bdee11fe674439dab54882
https://pubmed.ncbi.nlm.nih.gov/29552588
https://pubmed.ncbi.nlm.nih.gov/29552588
Autor:
Danny R. Welch, Scott W. Ballinger, Robert A. Kesterson, Jay L. Vivian, Laura J. Lambert, Larry W. Johnson
Publikováno v:
BIO-PROTOCOL. 6
The mitochondrial paradigm for common disease proposes that mitochondrial DNA (mtDNA) sequence variation can contribute to disease susceptibility and progression. To test this concept, we developed the Mitochondrial-nuclear eXchange (MNX) model, in w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3973f22c0301bdca30bec4342f5a598f
https://doi.org/10.21769/bioprotoc.1976
https://doi.org/10.21769/bioprotoc.1976