Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Rose, Lumbroso"'
Autor:
Rose Lumbroso, Miltiadis Paliouras, Mark Trifiro, Shafinaz F. Chowdhury, Enrico O. Purisima, Lenore K. Beitel
Publikováno v:
Hormones and Cancer. 10:24-35
The androgen-directed treatment of prostate cancer (PCa) is fraught with the recurrent profile of failed treatment due to drug resistance and must be addressed if we are to provide an effective therapeutic option. The most singular difficulty in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c133ea6cb6387ca32bb374a1771a3fc
https://doi.org/10.1007/s12672-018-0353-6
https://doi.org/10.1007/s12672-018-0353-6
Autor:
Jean Paquette, C.M. Girardin, Mark Trifiro, Lenore K. Beitel, Rose Lumbroso, E. Lemyre, Cheri Deal, G Van Vliet
Publikováno v:
The Journal of Pediatrics. 155:439-443
A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal X isodisomy explained the expression of androgen insensitivity despite the presence of 2 X
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842837615a783385287525397d45f5d9
https://doi.org/10.1016/j.jpeds.2009.02.052
https://doi.org/10.1016/j.jpeds.2009.02.052
Autor:
Jian Wu, Shereen A. Ghali, Youssef A. Elhaji, Rose Lumbroso, Leonard Pinsky, Bruce Gottlieb, Mark Trifiro, Lenore K. Beitel
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 88:2185-2193
Five mutations in the ligand-binding domain (LBD) of the human androgen receptor (hAR) found in patients with varying degrees of androgen insensitivity syndrome (AIS) were investigated for their effects on receptor dynamics. These were Arg(871)Gly (m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::007092a8f4aa9dd276e8345af373ba81
https://doi.org/10.1210/jc.2002-021324
https://doi.org/10.1210/jc.2002-021324
Autor:
Leonard Pinsky, Denise M. Vasiliou, Mark Trifiro, Rose Lumbroso, Bruce Gottlieb, Lenore K. Beitel
Publikováno v:
Human Mutation. 14:527-539
Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS). Nine of the mutations yield a stop codon directly, or due to a frameshift, in individuals with complete A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c9276ea8bd259aee99e964be43261b4
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<527::aid-humu12>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<527::aid-humu12>3.0.co
Publikováno v:
Human Mutation. 14:103-114
The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 309 to 374 during the past year. We have expanded the database by adding information on AR-interacting prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be7c3638dd1af4a0be61b7533148685c
https://doi.org/10.1002/(sici)1098-1004(1999)14:2<103::aid-humu2>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)14:2<103::aid-humu2>3.0.co
Publikováno v:
Human Genetics. 101:43-46
The human androgen receptor gene (hAR) has a long, polymorphic trinucleotide (GGN; glycine)n repeat in the 3' portion of its first exon, with n = 10-31. Owing to technical difficulties that have precluded routine sequencing of this region, it is wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db4759f8310ad0e766aff5c96ec85b05
https://doi.org/10.1007/s004390050583
https://doi.org/10.1007/s004390050583
Autor:
Mark Trifiro, Bruce Gottlieb, Rose Lumbroso, Heikki Lehväslaiho, Lenore K. Beitel, Leonard Pinsky
Publikováno v:
Nucleic Acids Research. 24:151-154
The current version of the androgen receptor (AR) gene mutations database is described. We have added (if available) data on the androgen binding phenotype of the mutant AR, the clinical phenotype of the affected persons, the family history and wheth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d806de3e39f3910ef8a02f8bbe4483d2
https://doi.org/10.1093/nar/24.1.151
https://doi.org/10.1093/nar/24.1.151
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
https://doi.org/10.1172/jci117368
Autor:
Miltiadis Paliouras, Edwin Wang, Mark Trifiro, Rose Lumbroso, Laurie Kapogeorgakis, Lenore K. Beitel, Naif Zaman
Publikováno v:
Integrative biology : quantitative biosciences from nano to macro. 3(10)
The androgen receptor (AR) is a ligand-inducible transcription factor, a member of the nuclear receptor superfamily, which plays an important role in the development and progression of prostate cancer (CaP). The transformation to CaP has been linked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41ceeeb94f69a67035e291057e08dfb
https://pubmed.ncbi.nlm.nih.gov/21901193
https://pubmed.ncbi.nlm.nih.gov/21901193
Autor:
Bruce Gottlieb, Mark Trifiro, Leonard Pinsky, Nelly Sabbaghian, Rose Lumbroso, Morris Kaufman
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 45:467-476
When 5 alpha-reductase-sufficient genital skin fibroblast (GSF) monolayers are incubated with testosterone (T), they first form androgen (A)-receptor (R) complexes that dissociate at a fast rate [k(37 degrees C = 0.024 min-1]. As T is converted to 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab94ba228278b80bcee11522cbc62b72
https://doi.org/10.1016/0960-0760(93)90161-o
https://doi.org/10.1016/0960-0760(93)90161-o