X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene-Reference-Cited by-同舟云学术

X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene

Published:2015-11 Issue:2 Volume:80 Page:160-162
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

del Refugio Rivera Vega Maria,Murillo-Vilches Mauricio R.,Toral-Lopez Jaime,Sanchez Etna Guerrero,Sanchez Andres Tirado,González-Huerta Luz M.,Cuevas-Covarrubias Sergio A.

Funder

DGAPA PAPIIT

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

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3. Human placental sterylsulfatase: interaction of the isolated enzyme with substrates, products, transition-state analogues, amino-acid modifiers and anion transport inhibitors;Dibbelt;Biol. Chem. Hoppe-Seyler,1991

4. Stratum corneum lipids in disorders of cornification;Williams;J. Clin. Invest.,1981

5. Further evidence for assignment of steroid sulfatase X-linked ichthyosis locus to the telomere of Xp;Müller;Hum. Genet.,1981

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1. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients;BMC Medical Genetics;2020-01-31

2. SULFATION PATHWAYS: Insights into steroid sulfation and desulfation pathways;Journal of Molecular Endocrinology;2018-08

3. Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report;BMC Medical Genetics;2018-07-18

4. X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients;Experimental Dermatology;2018-07-02

5. Recent advances in understanding ichthyosis pathogenesis;F1000Research;2016-06-24