Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Leonard Pinsky"'
Publikováno v:
Clinical Genetics. 7:186-191
A family with adult-onset amyotrophic lateral sclerosis (ALS) and dementia is described. The father presented with lower motor neurone disease affecting the legs. A son presented with bulbar paralysis. Neither developed dementia. A daughter presented
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d67003d058af4e4ecd00c222a941ebc
https://doi.org/10.1111/j.1399-0004.1975.tb00317.x
https://doi.org/10.1111/j.1399-0004.1975.tb00317.x
Publikováno v:
Clinical Genetics. 9:567-574
The cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5alpha-dihydrotestosterone (5alpha-DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::163f3418a27d6129cc8ca971073ce6fb
https://doi.org/10.1111/j.1399-0004.1976.tb01614.x
https://doi.org/10.1111/j.1399-0004.1976.tb01614.x
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:
Dana Lasko, Elizabeth MacNamara, Rogério Rabelo, Leonard Pinsky, William D. Foulkes, Zhi Qiang Yuan, George Chong, Nora Wong, Philip H. Gordon
Publikováno v:
Diseases of the Colon & Rectum. 44:437-446
PURPOSE: Genetic tests are available for familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. The goal of this review was to develop an algorithm for application of molecular diagnostic techniques to the management of heredit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::043a5f464b20263f2648351a0afa4f7f
https://doi.org/10.1007/bf02234746
https://doi.org/10.1007/bf02234746
Publikováno v:
Molecular and Cellular Endocrinology. 167:139-150
The physiological interplay of androgen and estrogen action in endocrine tissues is well recognized. The biochemical processes responsible for this interplay have yet to be fully defined. We have demonstrated that the androgen receptor (AR) and estro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d103cefe5be8cab1ef87f55d2f9a96e9
https://doi.org/10.1016/s0303-7207(00)00279-3
https://doi.org/10.1016/s0303-7207(00)00279-3
Autor:
Joyce Lim, Eu Leong Yong, Leonard Pinsky, Abdullah A. R. Abdullah, Mark Trifiro, Farid J. Ghadessy
Publikováno v:
Molecular Endocrinology. 14:1187-1197
The androgen receptor (AR) is a ligand-dependent X-linked nuclear transcription factor regulating male sexual development and spermatogenesis. The receptor is activated when androgen binds to the C-terminal ligand-binding domain (LBD), triggering a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23e9dd12c81deed330ea6fb16273c51
https://doi.org/10.1210/mend.14.8.0499
https://doi.org/10.1210/mend.14.8.0499
Autor:
Leonard Pinsky, Dov Frankel, Valerie Panet-Raymond, Anna Bibikova, Mark Trifiro, Adrian Sculptoreanu, Abdullah A. R. Abdullah, Hanan Abramovici, Hyman M. Schipper
Publikováno v:
Molecular and Cellular Biochemistry. 203:23-31
We have analyzed Ca2+ currents in two neuroblastoma-motor neuron hybrid cell lines that expressed normal or glutamine-expanded human androgen receptors (polyGln-expanded AR) either transiently or stably. The cell lines express a unique, low-threshold
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f99e0b1020cd676820b3ec0d910a77d7
https://doi.org/10.1023/a:1007010020228
https://doi.org/10.1023/a:1007010020228
Publikováno v:
American Journal of Medical Genetics. 89:210-217
The androgen receptor (AR) protein regulates transcription of certain genes. Usually, this activity depends upon a central DNA-binding domain that permits the binding of androgen-AR complexes to regulatory DNA sequences near or in a target gene. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cfaa29edd21dbb47cbaaf6b951ab33
https://doi.org/10.1002/(sici)1096-8628(19991229)89:4<210::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991229)89:4<210::aid-ajmg5>3.0.co
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