The New England journal of medicine
Authors: Larson EB, Yaffe K, Langa KM
Volume 1841 of Issue 3 | Biochimica et biophysica acta
Authors: Elias PM, Williams ML, Choi EH, Feingold KR
X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.
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Circulation
Authors: Harshal Sheth, Michael Broman, Amit Mehrotra, Dina Sparano, John Shin, Joshua Moss, Hemal Nayak, Martin Burke
Circulation
Authors: Joshua D Moss, Lizbeth Mino, Bradley Knight, John F Beshai, Hemal M Nayak, Martin C Burke
Circulation
Authors: Dina M Sparano, Kyle J Ericson, Michael T Broman, Amit K Mehrotra, Harshal Sheth, John H Shin, Martin C Burke, Joshua D Moss, Hemal M Nayak
Circulation
Authors: Hashmi Rafeek, Tim Churchill, Suraj Rasania, Karen Terembula, Victor Ferrari, Claire Mulvey, Atif Qasim, Muredach Reilly
Circulation
Authors: Nunes MC, Tan TC, Elmariah S, do Lago R, Margey R, Cruz-Gonzalez I, Zheng H, Handschumacher MD, Inglessis I, Palacios IF, Weyman AE, Hung J
PLoS medicine
Authors: Grundy Q, Bero L, Malone R
Circulation. Heart failure
Authors: Givertz MM, Postmus D, Hillege HL, Mansoor GA, Massie BM, Davison BA, Ponikowski P, Metra M, Teerlink JR, Cleland JG, Dittrich HC, O'Connor CM, Cotter G, Voors AA
Circulation. Heart failure
Authors: Cleland JG, Chiswell K, Teerlink JR, Stevens S, Fiuzat M, Givertz MM, Davison BA, Mansoor GA, Ponikowski P, Voors AA, Cotter G, Metra M, Massie BM, O'Connor CM