Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

mutation in POMP

Also Known As:

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Inflammation (Inflammations)

Experts

1.	Akiyama, Masashi: 1 article (01/2020)
2.	Takeichi, Takuya: 1 article (01/2020)
3.	Badhai, Jitendra: 1 article (04/2010)
4.	Brinkhuijzen, Tjinta: 1 article (04/2010)
5.	Brinkhuizen, Tjinta: 1 article (04/2010)
6.	Chaves, Antonio: 1 article (04/2010)
7.	Dahl, Niklas: 1 article (04/2010)
8.	Dahlqvist, Johanna: 1 article (04/2010)
9.	Gijezen, Lieke: 1 article (04/2010)
10.	Klar, Joakim: 1 article (04/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma:

1.	NucleotidesIBA 01/01/2020 - "There are 14 patients with KLICK syndrome described in the literature, and they all carry the same nucleotide deletion. " 01/01/2020 - "We propose that KLICK syndrome caused by the specific 1-bp nucleotide deletion mutation in the regulatory region of POMP might be in a spectrum of proteasome-associated phenotypes." 04/09/2010 - "Our results suggest that KLICK syndrome is caused by a single-nucleotide deletion in the 5' UTR of POMP resulting in altered distribution of POMP in epidermis and a perturbed formation of the outermost layers of the skin. "
2.	Proteasome Endopeptidase Complex (Proteasome)IBA 01/01/2020 - "KLICK syndrome is caused by a reduction in POMP levels that leads to proteasome insufficiency in differentiating keratinocytes. " 01/01/2020 - "It is considered that the disrupted proteasome assembly caused by the POMP mutation might lead to both skin inflammation and then hyperkeratosis in KLICK syndrome. " 01/01/2020 - "We propose that KLICK syndrome caused by the specific 1-bp nucleotide deletion mutation in the regulatory region of POMP might be in a spectrum of proteasome-associated phenotypes."
3.	5' Untranslated Regions (5' UTR)IBA 04/09/2010 - "Our results suggest that KLICK syndrome is caused by a single-nucleotide deletion in the 5' UTR of POMP resulting in altered distribution of POMP in epidermis and a perturbed formation of the outermost layers of the skin. "