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of 80
pro vyhledávání: '"Larry J. Shapiro"'
Cryptococcus neoformans, which is found worldwide as a soil organism and thought to be transmitted by inhalation, most often causes disease in patients with abnormal cell-mediated immunity, notably patients with HIV infection and solid-organ transpla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7582dff49ff439681c51500473e4e860
https://doi.org/10.1093/med/9780198746690.003.0153
https://doi.org/10.1093/med/9780198746690.003.0153
Publikováno v:
Somatic Cell and Molecular Genetics. 25:67-77
The human alanine:glyoxylate aminotransferase gene (AGXT) has been cloned and characterized in detail, and various mutant alleles have been shown to be responsible for primary hyperoxaluria type 1 (PH1). However, advances in understanding the basic m
Autor:
Tony Chang, Larry J. Shapiro, Ian A. Glass, Russell C. Lam, Esther Roitman, Cedric H.L. Shackleton
Publikováno v:
Prenatal Diagnosis. 18:789-800
A method for determining whether a pregnant woman with an extremely low serum oestriol (ELSE) measurement of mid-trimester is carrying a fetus with steroid sulphatase deficiency or another more serious disorder is described. We undertook GC/MS analys
Autor:
Larry J. Shapiro
Publikováno v:
Pediatric Research. 42:902-905
President Johnston, Madeline, Mel, members of the Grumbach clan, APS members, and guests. It is with considerable pride and the greatest of personal pleasure that I introduce to you the recipient of this year's John Howland Award of the American Pedi
Autor:
Elisabeth S. Alperin, Larry J. Shapiro
Publikováno v:
Journal of Biological Chemistry. 272:20756-20763
X-linked ichthyosis is the result of steroid sulfatase (STS) deficiency. While most affected individuals have extensive deletions of the STS gene, point mutations have been reported in three patients (1). In this study, we identify an additional thre
Autor:
Kazuhiro Kitada, X. M. Li, Y. Gong, Eduardo Salido, Larry J. Shapiro, Tadao Serikawa, Pauline H. Yen
Publikováno v:
Mammalian Genome. 7:420-424
Although the human steroid sulfatase (STS) gene has been cloned and characterized in detail, several attempts to clone its mouse homologue, with either anti-human STS antibodies or human STS cDNA probes, have failed, suggesting a substantial divergen
Publikováno v:
Nature Genetics. 13:83-86
Steroid sulphatase (STS) is an important enzyme in steroid metabolism. The human STS gene has been cloned and mapped to Xp22.3, proximal to the pseudoautosomal region (PAR). Using quantitative differences in STS activity among various mouse strains,
Publikováno v:
Somatic Cell and Molecular Genetics. 22:105-117
The human X-linked steroid sulfatase gene (STS) was among the first genes shown to escape X inactivation. At least fourteen genes regulated in this fashion have now been recognized. They are dispersed into several regions of the X chromosome and may
Autor:
Jonggwang Park, T. K. Mohandas, Pauline H. Yen, Lap-Chee Tsui, Larry J. Shapiro, Jingshi Wu, Verne M. Chapman, Eduardo Salido, Henry H.Q. Heng
Publikováno v:
Nature Genetics. 7:491-496
Among a number of genes that escape X-chromosome inactivation in humans, three have been evaluated in mice and unexpectedly all three are subject to X-inactivation. We report here the cloning and expression studies of a novel mouse gene, Xe169, and s
Autor:
Pauline H. Yen, Robert R. Flandermeyer, Mitchell S. Golbus, Roger V. Lebo, Larry J. Shapiro, Eric Lynch
Publikováno v:
American Journal of Medical Genetics. 46:652-658
X-linked ichthyosis results from steroid sulfatase (STS) deficiency; 90% of affected patients have a complete deletion of the entire 146 kb STS gene on the distal X chromosome short arm (Xp22.3). In these families prenatal diagnosis and carrier testi