Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Cynthia E. Prass"'
Autor:
Zenta Tsuchihashi, Felipa A. Mapa, Vincent K. Lee, Randall C. Schatzman, Seppo Parkkila, Steven M. Starnes, Roger K. Wolff, John N. Feder, Ebenezer Morikang, Cynthia E. Prass, Alivelu Irrinki, William S. Sly
Publikováno v:
Journal of Biological Chemistry. 272:14025-14028
We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is a novel member of the major histocompatibility complex class I family. A mutation in this gene, cysteine 282 --tyrosine (C282Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fca295fec61eab6e8ab8aa0f611e812
https://doi.org/10.1074/jbc.272.22.14025
https://doi.org/10.1074/jbc.272.22.14025
Autor:
Roger K. Wolff, Peter M. San Francisco Lauer, Nicole C. Meyer, Cynthia E. Prass, Andreas Gnirke, Steven M. Starnes
Publikováno v:
Genome Research. 7:457-470
YAC-based and bacterial-clone based STS-content maps were constructed that served as the framework physical maps for the positional cloning of a candidate gene for hereditary hemochromatosis. The YAC-based map comprises 43 YACs and 86 STS and spans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d79e8c90038d492427b958074d4633
https://doi.org/10.1101/gr.7.5.457
https://doi.org/10.1101/gr.7.5.457
Autor:
A. Basava, Nicole C. Meyer, Bruce R. Bacon, Norman Jones, Erin E. McClelland, R. Domingo, Winston Thomas, E. Morikang, A. Fullan, Leah Quintana, T. E. Moore, Randall C. Schatzman, Peter M. San Francisco Lauer, David A. Ruddy, Cynthia E. Prass, Deborah B. Loeb, V.K. Lee, Andreas Gnirke, F. Dormishian, John N. Feder, Roger K. Wolff, Neil Risch, L.M. Hinton, Dennis Drayna, Zenta Tsuchihashi, Felipa A. Mapa, Steven M. Starnes, K.J. Brunke, Michael C. Ellis, Gabe Mintier, Gregory S. Kronmal, N. Moeller, B.E. Kimmel
Publikováno v:
Nature Genetics. 13:399-408
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1ef0cd3b58620db3feffff0bebdb64
https://doi.org/10.1038/ng0896-399
https://doi.org/10.1038/ng0896-399
Autor:
David J. Lockhart, Brian J. Reid, Mark S. Chee, Roger K. Wolff, Cynthia E. Prass, Rui Mei, Nila Patil, Ghassan Ghandour, Anthony Berno, Patricia C. Galipeau
Most human cancers are characterized by genomic instability, the accumulation of multiple genetic alterations and allelic imbalance throughout the genome. Loss of heterozygosity (LOH) is a common form of allelic imbalance and the detection of LOH has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8270dc708044354109d07f96afb426ab
https://europepmc.org/articles/PMC2235196/
https://europepmc.org/articles/PMC2235196/
Autor:
Elizabeth M. Brunt, Charles M. Miller, Swan N. Thung, Henry C. Bodenheimer, Thomas W. King, Cynthia E. Prass, Thomas D. Schiano, C. V. R. Rathna Varma, Steven M. Starnes, Roger K. Wolff, M. Isabel Fiel, Bruce R. Bacon
Publikováno v:
Liver transplantation and surgery : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society. 5(1)
A candidate gene, HFE, was recently described in patients with hereditary hemochromatosis (HH) and found to contain a missense mutation leading to a cysteine to tyrosine substitution (C282Y). A second mutation, H63D, was also found in the gene. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f684ff1e30a2afa1122ff443673654
https://pubmed.ncbi.nlm.nih.gov/9873093
https://pubmed.ncbi.nlm.nih.gov/9873093
Autor:
Robert S. Britton, Rosemary O'Neill, Randall C. Schatzman, Abdul Waheed, Ying Fei, Jinxing Jiang, Robert E. Fleming, David A. Ruddy, Xiao Yan Zhou, Shunji Tomatsu, Elizabeth M. Brunt, Cynthia E. Prass, William S. Sly, Bruce R. Bacon, Seppo Parkkila
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and progressive iron storage that results in damage to major organs in the body. Recently, a candidate gene for HH called HFE encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5594608eb7eddcf7f4a4353ad90db0b
https://europepmc.org/articles/PMC19387/
https://europepmc.org/articles/PMC19387/