199 ENPP1: connecting calcification, keratinization and pigmentation
نویسندگان
چکیده
منابع مشابه
More than skin deep: connecting melanocyte pigmentation and angiogenic diseases.
Epidemiological studies have identified racial differences in susceptibility to numerous diseases, including several ocular and skin diseases characterized by increased vascular growth. In most cases, the specific mechanisms and genetic variants responsible for these differences have remained elusive. In this issue of the JCI, Adini et al. explore a direct connection between skin pigmentation a...
متن کاملENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy
Diseases of ectopic calcification of the vascular wall range from lethal orphan diseases such as generalized arterial calcification of infancy (GACI), to common diseases such as hardening of the arteries associated with aging and calciphylaxis of chronic kidney disease (CKD). GACI is a lethal orphan disease in which infants calcify the internal elastic lamina of their medium and large arteries ...
متن کاملKeratinization and its disorders.
Keratins are a diverse group of structural proteins that form the intermediate filament network responsible for maintaining the structural integrity of keratinocytes. In humans, there are around 30 keratin families divided into two groups, namely, acidic and basic keratins, which are arranged in pairs. They are expressed in a highly specific pattern related to the epithelial type and stage of c...
متن کاملImpact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
BACKGROUND Ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) generates inorganic pyrophosphate, a solute that serves as an essential physiological inhibitor of calcification. Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. We hypothesized the ENPP1 K121Q variant to be associated with increased vascular calcification in patients with en...
متن کاملEffects of etidronate on the Enpp1−/− mouse model of generalized arterial calcification of infancy
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder of spontaneous infantile arterial and periarticular calcification which is attributed to mutations in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (Enpp1) gene. Whilst the bisphosphonate, etidronate, is currently used off-label for the treatment for GACI, recent studies have highlighted its detrime...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.07.200