Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Paul T Ranum"'
Autor:
Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick L M Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard J H Smith
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005137 (2015)
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel sequencing (TGE+MPS) the rate of novel deafness
Externí odkaz:
https://doaj.org/article/3d71b5413dfb479d80203d8482249e74
Autor:
Ellie M. Carrell, Yong Hong Chen, Paul T. Ranum, Stephanie L. Coffin, Larry N. Singh, Luis Tecedor, Megan S. Keiser, Eloise Hudry, Bradley T. Hyman, Beverly L. Davidson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 296-304 (2023)
Recombinant adeno-associated viral vectors (rAAVs) are a promising strategy to treat neurodegenerative diseases because of their ability to infect non-dividing cells and confer long-term transgene expression. Despite an ever-growing library of capsid
Externí odkaz:
https://doaj.org/article/adb40a4cec5b4a3d9ab912e739f69a5c
Autor:
Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-17 (2023)
Abstract Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized. Therefo
Externí odkaz:
https://doaj.org/article/69b39b5275134f77bb652356de04ec38
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
Autor:
Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Jean Ann Maguire, Alyssa L. Gagne, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Alternative splicing of neuronal genes is controlled partly by the coordinated action of polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal. Here, we define the PTBP2 footpri
Externí odkaz:
https://doaj.org/article/8fbfb46edfea4a479ef94d2853340d5a
Autor:
Paul T. Ranum, Luis Tecedor, Megan S. Keiser, Yong Hong Chen, David E. Leib, Xueyuan Liu, Beverly L. Davidson
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb29cedc4333ee9797d74667b78be11
https://pubmed.ncbi.nlm.nih.gov/36610400
https://pubmed.ncbi.nlm.nih.gov/36610400
Autor:
Chelsy R Eddings, Ernest Fraenkel, Mali Jiang, C. Conover Talbot, Paul T. Ranum, Lauren R. DeVine, Robert N. Cole, Emma Whelan, Anthony Tang, Amanda J. Kedaigle, Leonard O Marque, Beverly L. Davidson, Ronald Wang, Nicolas Arbez, Tamara Ratovitski, Christopher A. Ross, Sergey S Akimov
Publikováno v:
Prof. Fraenkel
Hum Mol Genet
Hum Mol Genet
We have previously established induced pluripotent stem cell (iPSC) models of Huntington’s disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1865400d87031d19ad0d1a4727da4586
https://doi.org/10.1093/hmg/ddab200
https://doi.org/10.1093/hmg/ddab200
Autor:
Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
Alternative splicing of neuronal genes is controlled in part by the coordinated action of the polypyrimidine tract binding proteins (PTBP1 and PTBP2). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal, controlling the expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ff3573b477e2d2714aa22d782a385d7
https://doi.org/10.1101/2022.07.15.500219
https://doi.org/10.1101/2022.07.15.500219
Autor:
Yoichiro, Iwasa, Miles J, Klimara, Hidekane, Yoshimura, William D, Walls, Ryotaro, Omichi, Cody A, West, Seiji B, Shibata, Paul T, Ranum, Richard Jh, Smith
Publikováno v:
Life science alliance. 6(3)
Hearing loss is the most common sensory deficit, of which genetic etiologies are a frequent cause. Dominant and recessive mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81c29630f3f3a6950afc3ece6b54c421
https://pubmed.ncbi.nlm.nih.gov/36574989
https://pubmed.ncbi.nlm.nih.gov/36574989
Autor:
Cody West, Paul T. Ranum, Ryotaro Omichi, Yoichiro Iwasa, Miles J. Klimara, Daniel Walls, Jin-Young Koh, Richard J. H. Smith
Publikováno v:
Neuromethods ISBN: 9781071620212
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b036fd5632dddef31af5df7866851abd
https://doi.org/10.1007/978-1-0716-2022-9_7
https://doi.org/10.1007/978-1-0716-2022-9_7
Autor:
Cody West, Paul T. Ranum, Ryotaro Omichi, Yoichiro Iwasa, Miles J. Klimara, Daniel Walls, Jin-Young Koh, Richard J. H. Smith
Publikováno v:
Neuromethods ISBN: 9781071620212
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b2b796e18780fc108006d805f773bae
https://doi.org/10.1007/978-1-0716-2022-9_18
https://doi.org/10.1007/978-1-0716-2022-9_18