• Kirsten
  • KRAS ( K-ras or Ki-ras) is proto-oncogene corresponding to the oncogene first identified in Kirsten rat sarcoma virus and the gene product was first found as a p21 GTPase. (wikipedia.org)
  • LEOPARD
  • In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. (diva-portal.org)
  • pathway
  • Several hormones act through receptors that stimulate the RAS/MAPK pathway, and therefore, Noonan syndrome and related disorders represent a remarkable opportunity to study the implication of the RAS/MAPK pathway in different endocrine systems, including the GH/IGF-1 system. (springer.com)
  • Therefore, it is thought that dysregulation of this pathway during development is responsible for many of the clinical features of this syndrome. (wikipedia.org)
  • The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway each gene occupies. (wikipedia.org)
  • protein
  • Like other members of the ras subfamily, the KRAS protein is a GTPase and is an early player in many signal transduction pathways. (wikipedia.org)
  • There are two protein products of the KRAS gene in mammalian cells that result from the use of alternative exon 4 (exon 4A and 4B respectively): K-Ras4A and K-Ras4B, these proteins have different structure in their C-terminal region and use different mechanisms to localize to cellular membranes including the plasma membrane. (wikipedia.org)
  • This case highlights the possible association of cataract formation with MAPK cascade protein upregulation in Noonan syndrome. (biomedcentral.com)
  • In the protein analysis, the lens capsule and epithelium at capsulorhexis of the patient with Noonan syndrome or those of senile cataract patient (as control) were collected during surgery. (biomedcentral.com)
  • JMML
  • Defects in KRAS are a cause of juvenile myelomonocytic leukemia (JMML) [MIM: (abcam.com)
  • JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. (abcam.com)
  • EGFR
  • Although KRAS amplification is an infrequent event in colorectal cancer, it might be responsible for precluding response to anti-EGFR treatment in some patients. (wikipedia.org)
  • short stature
  • Noonan syndrome is one of the most common syndromes transmitted by a Mendelian mode and is mainly characterized by dysmorphic facial features, congenital heart disease, and proportionate postnatal short stature. (springer.com)
  • Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. (genome.gov)
  • The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. (e-jurnal.com)
  • MAPK
  • Based on this shared pathogenetic mechanism and clinical overlap, these diseases have been grouped into a single family, which has been termed the Ras-MAPK syndrome, alternatively the RAS-opathies. (biomedcentral.com)
  • Tumors
  • Studies show patients whose tumors express the mutated version of the KRAS gene will not respond to cetuximab or panitumumab. (wikipedia.org)
  • Although presence of the wild-type (or normal) KRAS gene does not guarantee that these drugs will work, a number of large studies have shown that cetuximab has significant efficacy in mCRC patients with KRAS wild-type tumors. (wikipedia.org)