X-linked ichthyosis

Common Name(s)

X-linked ichthyosis

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked ichthyosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked ichthyosis" returned 29 free, full-text research articles on human participants. First 3 results:

Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.
 

Author(s): Crystal Hung, Reed I Ayabe, Cynthia Wang, Ricardo F Frausto, Anthony J Aldave

Journal: Cornea. 2013 Sep;32(9):1283-7.

 

To report the association of X-linked ichthyosis and pre-Descemet corneal dystrophy with a deletion of the steroid sulfatase gene (STS) detected with microarray-based comparative genomic hybridization (aCGH).

Last Updated: 8 Aug 2013

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HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.
 

Author(s): Alice Preumont, Rim Rzem, Didier Vertommen, Emile Van Schaftingen

Journal: Biochem. J.. 2010 Oct;431(2):237-44.

 

Pseudouridine, the fifth-most abundant nucleoside in RNA, is not metabolized in mammals, but is excreted intact in urine. The purpose of the present work was to search for an enzyme that would dephosphorylate pseudouridine 5'-phosphate, a potential intermediate in RNA degradation. ...

Last Updated: 29 Sep 2010

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Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
 

Author(s): Haihui Liao, Alex J Waters, David R Goudie, David A Aitken, Gordon Graham, Frances J D Smith, Sue Lewis-Jones, W H Irwin McLean

Journal: J. Invest. Dermatol.. 2007 Dec;127(12):2795-8.

 

Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense ...

Last Updated: 16 Nov 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked ichthyosis" returned 1 free, full-text review articles on human participants. First 3 results:

Detection of the STS gene in a family with X-linked recessive ichthyosis.
 

Author(s): Na Wang, Kun An, Hong Liu, Xi'an Fu, Gongqi Yu, Yongxiang Yu, Hongqing Tian, Furen Zhang

Journal: Indian J Dermatol Venereol Leprol. ;79(2):268.

 

Last Updated: 27 Feb 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

STS/ACC Transcatheter Valve Therapy Registry (TVT Registry)
 

Status: Recruiting

Condition Summary: Aortic Valve Stenosis

 

Last Updated: 27 Dec 2012

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Contribution of F18-FDG PET/CT to the Early Assessment of Pazopanib Therapy Efficacy in Advanced Soft Tissue Sarcoma
 

Status: Not yet recruiting

Condition Summary: Soft Tissue Sarcoma (STS)

 

Last Updated: 7 May 2012

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