Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Karen M. Cerosaletti"'
Publikováno v:
Journal of Biological Chemistry. 278:21944-21951
The Mre11.Rad50.nibrin protein complex plays an essential role in the mammalian cellular response to DNA double-strand breaks. The disorder Nijmegen breakage syndrome (NBS) results from mutations in the NBS1 gene that encodes nibrin, and NBS cells ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9cfc4241e03bc08eef0c59a9214b742
https://doi.org/10.1074/jbc.m211689200
https://doi.org/10.1074/jbc.m211689200
Autor:
Jon Frampton, Bryan D. Huey, Patrick Concannon, Stephen L. Hart, Karen M. Cerosaletti, Ami Desai-Mehta, Robert E. White, Michael R. James, Richard Wade-Martins
Publikováno v:
The Journal of Gene Medicine. 5:883-892
Background Nonviral gene transfer vectors have the potential to deliver much larger DNA constructs than current viral vectors but suffer from a low transfection efficiency. The LID vector, composed of Lipofectin (L), an integrin-targeting peptide (I)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fac538af66869e859c441aee3626a41
https://doi.org/10.1002/jgm.420
https://doi.org/10.1002/jgm.420
Autor:
Sameer Bakhshi, Patrick Concannon, Karen M. Cerosaletti, Richard A. Gatti, Erawati V. Bawle, James Fontanesi, Kanta Bhambhani
Publikováno v:
Journal of Pediatric Hematology/Oncology. 25:248-251
A 3-year-old child with microcephaly, facial dysmorphism, growth retardation, and developmental delay was diagnosed with medulloblastoma. Craniospinal irradiation resulted in severe radiation-induced dermatitis and gastroesophagitis, unresponsive to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c88e0ca20c92a15adb6209da6cdb7ea
https://doi.org/10.1097/00043426-200303000-00013
https://doi.org/10.1097/00043426-200303000-00013
Autor:
Irena Shagina, Karen M. Cerosaletti, Igor B. Resnick, Richard A. Gatti, Irina Kondratenko, Svetlana Tverskaya, Oleg Togoev, Patrick Concannon, Natalia Vasserman, Oleg Evgrafov
Publikováno v:
The Journal of Pediatrics. 140:355-361
Objective: The purpose of the study was to ascertain patients with Nijmegen breakage syndrome (NBS) in the Russian population and characterize the clinical phenotype and molecular genotype of these patients. Study design: Eight unrelated Russian pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87f9ef4d403e992352130cc0287e826
https://doi.org/10.1067/mpd.2002.122724
https://doi.org/10.1067/mpd.2002.122724
Autor:
Mark O'Driscoll, Karen M. Cerosaletti, Markus Stumm, Boris Kysela, Pierre M. Girard, Patrick Concannon, Andrew R. Gennery, Susan E. Palmer, J. Seidel, Raymonda Varon, Betsy A. Hirsch, Penny A. Jeggo, Heidemarie Neitzel, Richard A. Gatti, Marjorie A. Oettinger, Yan Dai
Publikováno v:
Molecular Cell. 8:1175-1185
DNA ligase IV functions in DNA nonhomologous end-joining and V(D)J recombination. Four patients with features including immunodeficiency and developmental and growth delay were found to have mutations in the gene encoding DNA ligase IV (LIG4). Their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb32d51eeb9a8b848ea3d92782eefd16
https://doi.org/10.1016/s1097-2765(01)00408-7
https://doi.org/10.1016/s1097-2765(01)00408-7
Publikováno v:
Molecular and Cellular Biology. 21:2184-2191
The inherited chromosomal instability disorder Nijmegen breakage syndrome (NBS) results from truncating mutations in the NBS1 gene, which encodes the protein nibrin. Nibrin is part of a nuclear multiprotein complex that also contains the DNA repair p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c18a3c13cbf5b914aea5c9539bcf6d
https://doi.org/10.1128/mcb.21.6.2184-2191.2001
https://doi.org/10.1128/mcb.21.6.2184-2191.2001
Autor:
A. Malcolm R. Taylor, Pamela S. Karnes, Karen M. Cerosaletti, Michael Boehnke, Patrick Concannon, Kenshi Komatsu, Dominique Smeets, Heather M. Stringham, Richard A. Gatti, Ethan M. Lange, B. Sölder, Bernd H. Belohradsky, Alison M. Elliott, Corry M.R. Weemaes
Publikováno v:
American Journal of Human Genetics, 63, 125-135
American Journal of Human Genetics, 63, pp. 125-135
American Journal of Human Genetics, 63, pp. 125-135
Summary Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation, immunodeficiency, lack of secondary sex characteristics in females, and increased incidence of lymphoi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8145020406e55c1095e49a75e8c72f49
https://doi.org/10.1086/301927
https://doi.org/10.1086/301927
Publikováno v:
Genomics. 31:348-358
Expression of the serum albumin gene is extinguished in rat hepatoma microcell hybrids that retain mouse chromosome 1. These data define a trans-dominant extinguisher locus, Tse-2, on mouse chromosome 1. To localize the human TSE2 locus, we prepared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f436e1692e1d5a7fc5f3a0d6c506b8
https://doi.org/10.1006/geno.1996.0058
https://doi.org/10.1006/geno.1996.0058
Autor:
Karen M. Cerosaletti, Barry W. Festoff, Bruce A. Citron, Royston E. Carter, Dean J. Burkin, R. E. K. Fournier, Barry D. Greenberg, Carol Jones
Publikováno v:
Genomics. 27:196-199
Protease nexin I (PNI) is the most important physiologic regulator of {alpha}-thrombin in tissues. PNI is highly expressed and developmentally regulated in the nervous system where it is concentrated at neuromuscular junctions and also central synaps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19a26d6b53112886fc7c152e59775a37
https://doi.org/10.1006/geno.1995.1025
https://doi.org/10.1006/geno.1995.1025
Publikováno v:
The Journal of Immunology. 196:186.28-186.28
Islet-reactive CD4 T cells contribute to the development and progression of type 1 diabetes (T1D), and may provide a window into β-cell destruction. To identify unique characteristics of islet reactive T cells from T1D subjects, we coupled CD154 enr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::920fd6e6e1191b7c8220b5e3c3ec88a0
https://doi.org/10.4049/jimmunol.196.supp.186.28
https://doi.org/10.4049/jimmunol.196.supp.186.28