Ichthyosis lamellar 1

Common Name(s)

Ichthyosis lamellar 1

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ichthyosis lamellar 1" 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 "Ichthyosis lamellar 1" returned 10 free, full-text research articles on human participants. First 3 results:

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
 

Author(s): A Terrinoni, V Serra, A Codispoti, E Talamonti, L Bui, R Palombo, M Sette, E Campione, B Didona, M Annicchiarico-Petruzzelli, G Zambruno, G Melino, E Candi

Journal:

 

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients ...

Last Updated: 25 Oct 2012

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Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.
 

Author(s): Karin Aufenvenne, Robert H Rice, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Marcela Del Rio, Heiko Traupe, Fernando Larcher

Journal: J. Invest. Dermatol.. 2012 Jul;132(7):1918-21.

 

Last Updated: 14 Jun 2012

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Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.
 

Author(s): Ryan F L O'Shaughnessy, Ishaan Choudhary, John I Harper

Journal: Hum. Mol. Genet.. 2010 Jul;19(13):2594-605.

 

The autosomal recessive congenital ichthyoses are a family of related diseases, causing a severe defect in the barrier function of the epidermis. Neonates are usually born as collodion babies, but later form scales characteristic of the disease, due to a combination of thickening ...

Last Updated: 11 Jun 2010

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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 "Ichthyosis lamellar 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.