Zobrazeno 1 - 10
of 14
pro vyhledávání: '"V R Sutton"'
Publikováno v:
Molecular Genetics and Metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2c9d03a62a8029a607f1697ddb53a5
http://europepmc.org/articles/PMC8032373
http://europepmc.org/articles/PMC8032373
Autor:
Tatyana N. Tarasenko, Randy J. Chandler, Peter J. McGuire, Charles P. Venditti, Kristina Cusmano-Ozog, V R Sutton, Q Sun
Publikováno v:
Gene therapy
Citrullinemia type 1 (CTLN1) is an autosomal recessive disorder of metabolism caused by a deficiency of argininosuccinate synthetase. Despite optimal management, CTLN1 patients still suffer from lethal metabolic instability and experience life-threat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90c950cfdfbe863c605af0ce612ca6a
https://doi.org/10.1038/gt.2013.53
https://doi.org/10.1038/gt.2013.53
Autor:
R M, Patel, S C S, Nagamani, D, Cuthbertson, P M, Campeau, J P, Krischer, J R, Shapiro, R D, Steiner, P A, Smith, M B, Bober, P H, Byers, M, Pepin, M, Durigova, F H, Glorieux, F, Rauch, B H, Lee, T, Hart, V R, Sutton
Publikováno v:
Clinical genetics. 87(2)
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of OI, there have been no large-scale natural history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b0c933b0b1bbd40a1f71a7b05dd59ae5
https://pubmed.ncbi.nlm.nih.gov/24754836
https://pubmed.ncbi.nlm.nih.gov/24754836
Publikováno v:
The Journal of Immunology. 158:5783-5790
Two pathways have been implicated in the induction of apoptosis by cytotoxic T cells: the granule exocytosis pathway and a pathway using CD95 (Fas/APO-1). To test whether apoptosis induced by either of these pathways could be blocked by Bcl-2, we exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dd13c4bf05b3126d29f323db5b72fc8
https://doi.org/10.4049/jimmunol.158.12.5783
https://doi.org/10.4049/jimmunol.158.12.5783
Autor:
R. L. Alford, V. R. Sutton
Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryn
Publikováno v:
Journal of inherited metabolic disease, 26(1), 69-71. Springer Netherlands
A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c241160d22e4eccfe79aa98ea08664
https://doi.org/10.1023/a:1024083715568
https://doi.org/10.1023/a:1024083715568
Publikováno v:
Journal of leukocyte biology. 70(1)
Cytotoxic lymphocytes largely comprise CD8(+) cytotoxic T cells and natural killer cells and form the major defense of higher organisms against virus-infected and transformed cells. A key function of cytotoxic lymphocytes is to detect and eliminate p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94f9d2c0425fff88ef54efc6f5764f50
https://pubmed.ncbi.nlm.nih.gov/11435481
https://pubmed.ncbi.nlm.nih.gov/11435481
Autor:
V R, Sutton, L G, Shaffer
Publikováno v:
American journal of medical genetics. 93(5)
Over the past few years, regions of genomic imprinting have been identified on a small number of chromosomes through a search for the etiology of various disorders. Distinct phenotypes have been associated with both maternal and paternal uniparental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::358e00246455f68287b7221bcd6b5679
https://pubmed.ncbi.nlm.nih.gov/10951461
https://pubmed.ncbi.nlm.nih.gov/10951461
Autor:
Y Q, Wu, V R, Sutton, E, Nickerson, J R, Lupski, L, Potocki, J R, Korenberg, F, Greenberg, M, Tassabehji, L G, Shaffer
Publikováno v:
American journal of medical genetics. 78(1)
Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84d66598313d2e8931a184b39d6dbc4c
https://pubmed.ncbi.nlm.nih.gov/9637430
https://pubmed.ncbi.nlm.nih.gov/9637430
Publikováno v:
Transplantation. 62(10)
Lymphocyte-mediated cytotoxicity represents one defense mechanism that contributes to transplant rejection. Comparatively little is known about the molecular mechanisms responsible for cell-mediated rejection of xenografts. Herein, we have investigat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fefd20d97860f8ad94cd6c3ee09452eb
https://pubmed.ncbi.nlm.nih.gov/8958289
https://pubmed.ncbi.nlm.nih.gov/8958289