Deletion of Exons 1–5 of the STS Gene Causing X-Linked Ichthyosis
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference30 articles.
1. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein;Alperin;J Biol Chem,1997
2. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques;Aviram-Goldring;Int J Dermatol,2000
3. Two families of low copy-number repeats are interspersed on Xp22.3: implication for the high frequency of deletions in this regions;Ballabio;Genomics,1990
4. Molecular heterogeneity of steroid sulfatase deficiency. a multicenter study on 7 unrelated patients at DNA and protein levels;Ballabio;Genomics,1989
5. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification;Ballabio;Hum Genet,1990
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1. Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes;Scientific Reports;2021-10-21
2. 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
3. X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients;Experimental Dermatology;2018-07-02
4. In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report;BMC Ophthalmology;2017-03-16
5. Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty;The Journal of Clinical Endocrinology & Metabolism;2016-06
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