کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9935806 | 1569554 | 2005 | 16 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Germ-line and somatic PTPN11 mutations in human disease
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کلمات کلیدی
SHP-2PTPN11Gain-of-function mutations - جهش های حاصل از عملکردLEOPARD syndrome - سندرم LEOPARDNoonan syndrome - سندرم نونانMyelodysplastic syndromes - سندرم های میلوسپلاستیAcute leukemia - لوسمی حادjuvenile myelomonocytic leukemia - لوسمی مایولومونوسیتی نوجوانانGenotype–phenotype correlation - همبستگی ژنوتیپ-فنوتیپ
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation. SHP-2 is a cytoplasmic Src-homology 2 domain-containing protein tyrosine phosphatase that plays an important role in intracellular signaling and is required during development and hematopoiesis. Germ-line missense mutations in PTPN11, the gene coding SHP-2, have been discovered as a major molecular event underlying Noonan syndrome, an autosomal dominant trait characterized by short stature, dysmorphic facies, and congenital heart defects, as well as in other closely related developmental disorders. More recently, a distinct class of missense mutations in the same gene has been identified to occur as a somatic event contributing to myeloid and lymphoid malignancies. This review focuses on the role of SHP-2 in signal transduction, development and hematopoiesis, as well as on the consequences of SHP-2 gain-of-function.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 48, Issue 2, AprilâJune 2005, Pages 81-96
Journal: European Journal of Medical Genetics - Volume 48, Issue 2, AprilâJune 2005, Pages 81-96
نویسندگان
Marco Tartaglia, Bruce D. Gelb,