Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
نویسندگان
چکیده
منابع مشابه
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mut...
متن کاملExpression of R120G–aB-Crystallin Causes Aberrant Desmin and aB-Crystallin Aggregation and Cardiomyopathy in Mice
Upregulation of aB-crystallin (CryAB), a small heat shock protein, is associated with a variety of diseases, including the desmin-related myopathies. CryAB, which binds to both desmin and cytoplasmic actin, may participate as a chaperone in intermediate filament formation and maintenance, but the physiological consequences of CryAB upregulation are unknown. A mutation in CryAB, R120G, has been ...
متن کاملKeratins K2 and K10 are essential for the epidermal integrity of plantar skin.
BACKGROUND K1 and K2 are the main type II keratins in the suprabasal epidermis where each of them heterodimerizes with the type I keratin K10 to form intermediate filaments. In regions of the ears, tail, and soles of the mouse, only K2 is co-expressed with K10, suggesting that these keratins suffice to form a mechanically resilient cytoskeleton. OBJECTIVE To determine the effects of the suppr...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2014
ISSN: 0022-202X
DOI: 10.1038/jid.2014.197