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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Ras-MAPK pathway and Noonan syndrome

Ras-MAPK pathway and Noonan syndrome
  • Activation of the Ras-MAPK pathway leads to transcription of genes influencing cell proliferation, growth and other processes in both nucleus and cytosol. RAS proteins are KRAS, HRAS, NRAS, RRAS, and MRAS. SHP2 is a dual-specificity phosphatase. SOS1 and SOS2 are guanine-nucleotide exchange factors (GEFs).
  • Putative causal variants affecting additional genes such as RASA2, CDC42, and RREB1 have also been described in individuals with phenotypes similar to those of NS, but, due to the small numbers described so far and sometimes limited biologic data, whether these should be described as variants of NS is yet to be decided.
MAPK: mitogen-activated protein kinase; RRAS: RAS-related; HRAS: HRAS proto-oncogene, GTPase; RIT1: Ras-like without CAAX 1; KRAS: KRAS proto-oncogene, GTPase; NRAS: NRAS proto-oncogene, GTPase; MRAS: muscle RAS oncogene homolog; NF1: neurofibromin 1; LZTR1: leucine zipper-like transcription regular 1; SOS: SOS Ras/Rac guanine nucleotide exchange factor; SHC: SH2 (Src-homology domain 2)-containing protein; CBL: Cbl proto-oncogene; SHP2: Src homology region 2 domain-containing phosphatase 2; SHOC2: SHOC2, leucine-rich repeat scaffold protein; PPP1CB: protein phosphatase 1 catalytic subunit beta; GRB2: growth factor receptor-bound protein 2; RASA2: RAS p21 protein activator 2; SPRED1: sprouty-related EVH1 domain-containing 1; BRAF: B-Raf proto-oncogene, serine/threonine kinase; RAF1: Raf-1 proto-oncogene, serine/threonine kinase; MAP2K1: mitogen-activated protein kinase kinase 1; MAP2K2: mitogen-activated protein kinase kinase 2; ERK: extracellular signal-regulated kinase; CDC42: cell division cycle 42; RREB1: ras-responsive element-binding protein 1; PTPN11: protein tyrosine phosphatase, nonreceptor type 11; MEK: MAPK/ERK kinase.
* SHP2 gene is PTPN11.
MAP2K1 and MAP2K2 are the same as MEK.
Adapted from: Burkitt-Wright EMM, Kerr B. RAS-MAPK pathway disorders: Important causes of congenital heart disease, feeding difficulties, developmental delay and short stature. Arch Dis Child 2010; 95:724.
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