Zobrazeno 1 - 10 of 120 pro vyhledávání: '"A. M. Digeorge"'
1
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome
Autor: Ana Claudia Latronico, Angelo M. Digeorge, Constantine Tsigos, Robert Rapaport, George P. Chrousos, Keiko Arai
Publikováno v: Scopus-Elsevier
Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc193661cb57e996639213f5337ad4c
https://doi.org/10.1210/jcem.80.7.7608277
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2
The encephalomyocarditis virus 3C protease is a substrate for the ubiquitin-mediated proteolytic system
Autor: J L Lockhart, D L Gronros, T G Lawson, A C Wey, J W Wilson, Patrick L. Wintrode, A M DiGeorge, J A Werner
Publikováno v: Journal of Biological Chemistry. 269:28429-28435
The encephalomyocarditis virus 3C protease has been shown to be rapidly degraded in infected cells and in vitro in rabbit reticulocyte lysate. The in vitro degradation, at least, is accomplished by a virus-independent, ATP-dependent proteolytic syste
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dec9bbfd78706854ef1611b3243cabb0
https://doi.org/10.1016/s0021-9258(18)46945-1
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3
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance
Autor: A M DiGeorge, Rose Lumbroso, Morris Kaufman, L Pinsky, D. W. Killinger, Mark Trifiro, Lenore K. Beitel, P Kazemi-Esfarjani
Publikováno v: Journal of Clinical Investigation. 94:546-554
We aim to correlate point mutations in the androgen receptor gene with receptor phenotypes and with clinical phenotypes of androgen resistance. In two families, the external genitalia were predominantly female at birth, and sex-of-rearing has been fe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66c12e970dc55b78bdaf2461f7f31a5
https://doi.org/10.1172/jci117368
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4
Engineered topographic determinants with alpha beta, beta alpha beta, and beta alpha beta alpha topologies show high affinity binding to native protein antigen (lactate dehydrogenase-C4)
Autor: Susan Kobs-Conrad, A. M. Digeorge, Hyosil Lee, Pravin T. P. Kaumaya
Publikováno v: Journal of Biological Chemistry. 268:25285-25295
The use of peptides has attracted much interest in the development of synthetic vaccines. Although our current understanding of peptide antigens as immunogens has been greatly advanced recently, there still remain many obstacles. The B cell response
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2c3633811bc97b09371c41a6eacb5d3
https://doi.org/10.1016/s0021-9258(19)74390-7
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5
Cerebral edema causing death in children with maple syrup urine disease
Autor: Angelo M. DiGeorge, Iraj Rezvani, Catherine M. Foley, James J. Riviello
Publikováno v: The Journal of Pediatrics. 119:42-45
Four children with the classic form of maple syrup urine disease (MSUD) died of cerebral edema during an intercurrent infection that caused severe dehydration and acidosis. The diagnosis of MSUD had been established during the neonatal period in all
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0146c001883848414045383dc8d1b362
https://doi.org/10.1016/s0022-3476(05)81036-4
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8
46,XY monozygotic twins with discordant sex phenotype
Autor: Laird Jackson, Angelo M. DiGeorge, S.G. Somkuti, Avirachan T. Tharapel, Stephen S. Wachtel, Jay S. Schinfeld
Publikováno v: Fertility and sterility. 74(6)
Objective: To analyze male and female sex differentiation in monozygotic twins. Design: Retrospective study. Setting: Multiple academic centers. Patient(s): A pair of monozygotic twins. Intervention(s): Skin and blood samples were obtained for DNA an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed47a2095a4a0a4241d39e39ab954a58
https://pubmed.ncbi.nlm.nih.gov/11119763
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9
Glycosylation-dependent peptide antigenic determinants of env gp46 HTLV-1
Autor: P T, Kaumaya, S F, Conrad, A M, DiGeorge, M D, Lairmore
Publikováno v: Leukemia. 9
Human T-lymphotropic virus type 1 (HTLV-I) is a retrovirus associated with adult T-cell leukemia/lymphoma, and the virus infection constitutes a growing public health problem. In a continuing effort to engineer conformationally dependent HTLV-I epito
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0696790e4501fdb7778b1ddc03863fd0
https://pubmed.ncbi.nlm.nih.gov/7475306
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10
Human T-lymphotropic virus type 1 peptides in chimeric and multivalent constructs with promiscuous T-cell epitopes enhance immunogenicity and overcome genetic restriction
Autor: Alex V. Trevino, A. M. DiGeorge, S. F. Conrad, Michael Dale Lairmore, Pravin T. P. Kaumaya, R. B. Lal
Publikováno v: Journal of virology. 69(10)
Conventional strategies of viral peptide immunizations often elicit low-affinity antibody responses and have limited ability to elicit immune responses in outbred animals of diverse major histocompatibility (MHC) haplotypes. This genetically restrict
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57d0611e50153050246f422d5e80a07
https://pubmed.ncbi.nlm.nih.gov/7545241
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