Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
نویسندگان
چکیده
منابع مشابه
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable exception to this exists for pachyonychia congenita (PC), a rare, dominant-negative keratin disorder. The establ...
متن کاملDevelopment of therapeutic siRNAs for pachyonychia congenita.
Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder where the most painful, debilitating aspect is plantar keratoderma. PC is caused by mutations in one of four keratin genes; however, most patients carry K6a mutations. Knockout mouse studies suggest that ablation of one of the several K6 genes can be tolerated owing to compensatory expression of the others. Here, we have deve...
متن کاملChallenges in developing therapies for rare diseases including pachyonychia congenita.
The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient populations with an emphasis on pachyonychia congenita.
متن کاملPaternal germ cell mosaicism in autosomal dominant pachyonychia congenita.
BACKGROUND Pachyonychia congenita (PC) is a genodermatosis caused by mutations in 1 of 4 known keratin genes, including KRT6A, KRT6B, KRT16, or KRT17. The most common mode of inheritance is autosomal dominant. Families with an affected parent are routinely counseled about the 50% transmission risk to each offspring. In some cases, families with a rare disorder like PC can initially present with...
متن کاملDevelopment of skin-humanized mouse models of pachyonychia congenita.
Molecular characterization and assessment of therapeutic outcomes for inherited cutaneous disorders requires faithful preclinical models. In this study we report the establishment of two different skin-humanized pachyonychia congenita (PC) model systems, based on permanent engraftment of bioengineered skin equivalents generated from patient skin cells onto immunodeficient mice. Using keratinocy...
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ژورنال
عنوان ژورنال: Journal of Dermatological Science
سال: 2008
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2008.04.003