Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Melanie K, Smith"'
Autor:
Jenny A. Greig, Joanna K. Chorazeczewski, Vivek Chowdhary, Melanie K. Smith, Matthew Jennis, James C. Tarrant, Elizabeth L. Buza, Kimberly Coughlan, Paolo G.V. Martini, James M. Wilson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 32-39 (2023)
Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism caused by uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) mutations characterized by hyperbilirubinemia and jaundice. No cure currently exists; treatment options are limited
Externí odkaz:
https://doaj.org/article/4c4c351c175a4e80928fe2e172b5b2ec
Autor:
Jenny A, Greig, Camilo, Breton, Scott N, Ashley, Kelly M, Martins, Cassandra, Gorsuch, Joanna K, Chorazeczewski, Thomas, Furmanak, Melanie K, Smith, Yanqing, Zhu, Peter, Bell, Wendy, Shoop, Hui, Li, Jeff, Smith, Ginger, Tomberlin, Peter, Clark, Thomas W, Mitchell, Elizabeth L, Buza, Hanying, Yan, Derek, Jantz, James M, Wilson
Publikováno v:
Human gene therapy. 33(21-22)
Transthyretin amyloidosis (ATTR) is a progressive and fatal disease caused by transthyretin (TTR) amyloid fibril accumulation in tissues, which disrupts organ function. As the TTR protein is primarily synthesized by the liver, liver transplantation c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d4ccf54abb2c8e3dce079f044db31db
https://pubmed.ncbi.nlm.nih.gov/36375122
https://pubmed.ncbi.nlm.nih.gov/36375122
Autor:
Melanie K. Smith, Vilmos Vass
Publikováno v:
Transformation in Higher Education, Vol 2, Iss 0, Pp e1-e9 (2017)
The main objective of this article is to explore the relationship between internationalisation, creativity and transformation in the context of higher education. It is argued in academic theory that the process of internationalisation in higher educa
Externí odkaz:
https://doaj.org/article/691fdf3a19f241e2994fe86e2c1697ea
Autor:
Bernadett Csurgó, Melanie K. Smith
Publikováno v:
Sustainability; Volume 14; Issue 12; Pages: 7305
The paper focuses on three dimensions of Cultural Ecosystem Services—cultural heritage, sense of place and tourism—and examines the relationships between them in a rural landscape context. Sense of place connects to landscapes that foster authent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c1bf6af1cd7642083ec6bfc1224996
Autor:
Jenny A. Greig, Hanying Yan, Thomas Furmanak, Alexa N. Avitto, Caitlin Latshaw, Camilo Breton, Melanie K. Smith, James M. Wilson
Publikováno v:
Mol Ther
Our group previously used adeno-associated viral vectors (AAVs) to express an engineered meganuclease specific for a sequence in the PCSK9 gene (M2PCSK9), a clinical target for treating coronary heart disease. Upon testing this nuclease in non-human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d024c63200f53d985a81e414add2016e
https://doi.org/10.1016/j.ymthe.2020.12.028
https://doi.org/10.1016/j.ymthe.2020.12.028
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150268 (2016)
In situ, cells of the musculoskeletal system reside within complex and often interconnected 3-D environments. Key to better understanding how 3-D tissue and cellular environments regulate musculoskeletal physiology, homeostasis, and health is the use
Externí odkaz:
https://doaj.org/article/d6a46459a3f141e18ad6837f7ae58679
The aim of the chapter is to provide recommendations for cities that are aiming to reposition themselves in the post-pandemic period in terms of image, product development, and the attraction of different segments of visitors. It is aimed at those re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71e1d9da97484c5451673d1ec2f7518a
https://doi.org/10.4018/978-1-7998-8528-3.ch023
https://doi.org/10.4018/978-1-7998-8528-3.ch023
Autor:
Tamara Goode, Elizabeth L. Buza, Lisa M. Kattenhorn, Melanie K. Smith, Jayme M.L. Nordin, Samuel C. Wadsworth, Edward A. Chroscinski, James M. Wilson, Jenny A. Greig, Nicole Schmidt
Publikováno v:
Human gene therapy. 33(7-8)
Hemophilia A, a bleeding disorder, affects 1:5,000 males and is caused by deficient human blood coagulation factor VIII (hFVIII). Studies in mice and macaques identified AAVhu37.E03.TTR.hFVIIIco-SQ.PA75 as a clinical candidate gene therapy vector to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3cf0d54c0720bede4234e43a9b2a9a
https://pubmed.ncbi.nlm.nih.gov/34652966
https://pubmed.ncbi.nlm.nih.gov/34652966
Autor:
Aditya Dandekar, James M. Wilson, Jenny A. Greig, Matthew Jennis, Scott N. Ashley, Hanying Yan, Joanna K. Chorazeczewski, Melanie K. Smith
Publikováno v:
Molecular genetics and metabolism. 134(1-2)
Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder characterized by a dysfunctional mitochondrial enzyme complex, branched-chain alpha-keto acid dehydrogenase (BCKDH), which catabolizes branched-chain amino acids (BCAAs). Withou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a91864936d8445abd4297aee02fe5fb
https://pubmed.ncbi.nlm.nih.gov/34454844
https://pubmed.ncbi.nlm.nih.gov/34454844
Autor:
Scott N. Ashley, Peter Bell, Elizabeth L. Buza, Jayme M.L. Nordin, Melanie K. Smith, Yanqing Zhu, Christine Draper, James M. Wilson, Jenny A. Greig
Publikováno v:
Human Gene Therapy Clinical Development. 30:29-39
Wilson disease (WD), an autosomal recessive disease caused by mutations in a copper-transporting P-type ATPase (Atp7b), causes severe liver damage. This disease is currently treated with the lifelong use of copper chelation therapy, which has side ef
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fba4c33bd2962d13438e6d7756ebd430
https://doi.org/10.1089/humc.2018.219
https://doi.org/10.1089/humc.2018.219