کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9271701 | 1220295 | 2005 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetics of chondrocalcinosis
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
ایمونولوژی، آلرژی و روماتولوژی
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چکیده انگلیسی
Rapid developments in genetic analysis have enabled the dissection of a variety of arthropathies that are inherited in a Mendelian manner. These disorders include calcium crystal arthropathies such as calcium pyrophosphate dihydrate deposition (CPPD) disease and hydroxyapatite deposition disease. In CPPD disease, mutations in a recently discovered gene, ANKH, have been demonstrated in five affected families and may also be associated with the idiopathic deposition of calcium pyrophosphate dihydrate crystals. The product of ANKH appears to be involved in cellular transport of inorganic pyrophosphate (PPi) and mutations in ANKH have been shown to have a significant impact on the regulation of intra- and extracellular levels of PPi. In families with hydroxyapatite deposition disease, no gene locus has yet been linked to the disorder.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Osteoarthritis and Cartilage - Volume 13, Issue 9, September 2005, Pages 745-750
Journal: Osteoarthritis and Cartilage - Volume 13, Issue 9, September 2005, Pages 745-750
نویسندگان
Raihana Ph.D., Charlene J. Ph.D.,