Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum-Reference-Cited by-同舟云学术

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum

Published:2015-09-21 Issue:9 Volume:30 Page:1629-1631
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Oyama N.¹,Matsuda M.²,Hamada T.²,Numata S.²,Teye K.²,Hashimoto T.²,Hasegawa M.³

Affiliation:

1. Division of Dermatology and Dermato-Allergology; Matsuda General Hospital; Ohno Fukui 912-0026 Japan

2. Department of Dermatology; Kurume University School of Medicine; and Kurume University Institute of Cutaneous Cell Biology; 67 Asahimachi Kurume Fukuoka 830-0011 Japan

3. Department of Dermatology; Fukui University; Fukui 23-3 Matsuoka-Shimoaizuki Eiheiji Yoshida Fukui 910-1193 Japan

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13231/fullpdf

Reference9 articles.

1. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis;Ballabio;Proc Natl Acad Sci USA,1987

2. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange;Yen;Cell,1987

3. dbSNP: the NCBI database of genetic variation;Sherry;Nucleic Acids Res,2001

4. Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient;Murtaza;J Dermatol Sci,2014

5. 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

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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. A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism;Clinical and Experimental Dermatology;2018-09-16

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

4. 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

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