کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9202296 | 1189928 | 2005 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Neurofibromatosis 1: From lab bench to clinic
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
Neurofibromatosis type 1 is a common autosomal dominant disorder in which affected children and adults develop both benign and malignant tumors. In addition to tumor formation, children with neurofibromatosis type 1 may exhibit specific learning disabilities, distinctive bony abnormalities, and hyperpigmented lesions (café-au-lait macules, skinfold freckling, and Lisch nodules). With the identification of the neurofibromatosis 1 gene in 1990, significant strides have been made towards elucidating the pathogenesis of specific clinical problems in neurofibromatosis type 1 and developing first-generation, biologically based targeted therapies. Recent advances in mouse modeling have likewise yielded important insights into the genetic and cellular mechanisms underlying neurofibromatosis 1-associated tumor formation and learning disabilities. This review will focus on the clinical features of neurofibromatosis type 1, the molecular biology of the neurofibromatosis 1 gene, and the use of mouse modeling to recapitulate the human condition.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 32, Issue 4, April 2005, Pages 221-228
Journal: Pediatric Neurology - Volume 32, Issue 4, April 2005, Pages 221-228
نویسندگان
Beth Ann MD, David H. MD, PhD,