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Foster, P. A. et al., In vivo efficacy of STX213, a second-generation steroid sulfatase inhibitor, for hormone-dependent breast cancer therapy. Clinical Cancer .. In addition to the evaluation of the exogenous MSC therapy, the Newsome group is also looking at the long-term consequences of endogenous MSC deficiency.
10 Jan 2011 This X-linked recessive disease is characterized by a deficiency in the steroid sulfatase (STS) enzyme and affects 1 in 6000 male infants. The deficiency causes failure of keratinocytes to shed normally, resulting in hyperkeratosis and prominent, large, polygonal dirty brown scales on the neck, extremities,
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Steroid sulfatase (STS) deficiency (MIM 308100) is an inborn error of metabolism causing X-linked ichthyosis, a skin disorder inherited as an X-linked trait. The condition affects between 1 in 2000 and 1 in 6000 males in many different populations from a range of geographic locations and racial and ethnic backgrounds.
rare disease research! The scales of X-linked ichthyosis are often dark and usually cover only a portion of the body. X-linked ichthyosis mostly affects males.
22 Mar 2016 Context: Steroid sulfatase (STS) cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone (DHEA) sulfate (DHEAS), the inactive sulfate ester of the adrenal androgen precursor DHEA. Deficient DHEA sulfation, the opposite enzymatic reaction to that catalyzed by STS, results in
The modern theory on the origin of cancer prescribes that every tumor is a unique experiment of nature, in which mutations in key genes (also called driver .. peroxisomal Alanine, aspartate andglutamate metabolism Steroid metabolism Vitamin E metabolism Otheramino acid Cholesterol biosynthesis 3 (Kandustch Russell
Steroid-Sulfatase Deficiency in Sex-Linked Ichthyosis. JOSEPH KUBILUS,1 ANDREW J. TARASCIO, AND HOWARD P. BADEN. SUMMARY. Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An inter- mediate value of enzyme activity was
Rare causes for HLH are metabolic diseases such as lysinuric protein intolerance [16], multiple sulfatase deficiency [31], and Wolman`s disease (author`s own experience). 4 Review . EBV-associated HLH may exhibit a mild clinical course in some patients that can be controlled with steroids and / or immunoglobulins [6].
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