• gene
  • 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)
  • 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)
  • 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)
  • In the Phase III CRYSTAL study, published in 2009, patients with the wild-type KRAS gene treated with Erbitux plus chemotherapy showed a response rate of up to 59% compared to those treated with chemotherapy alone. (wikipedia.org)
  • Patients with the KRAS wild-type gene also showed a 32% decreased risk of disease progression compared to patients receiving chemotherapy alone. (wikipedia.org)
  • KRAS gene can also be amplified in colorectal cancer. (wikipedia.org)
  • KRAS ( K-ras or Ki-ras) is a gene that acts as an on/off switch in cell signalling. (wikipedia.org)
  • Thus, KRAS gene in cellular genome is called a proto-oncogene . (wikipedia.org)
  • A person who has Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception. (genome.gov)
  • This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. (genome.gov)
  • and a 1 in 2 (50 percent) chance to pass on the normal version of the gene to a child who will not have Noonan syndrome. (genome.gov)
  • In many individuals who have Noonan syndrome, the altered gene happens for the first time in them, and neither of the parents has Noonan syndrome. (genome.gov)
  • The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway each gene occupies. (wikipedia.org)
  • With the extensive research on human immunodeficiency virus-1 due to the acquired immune deficiency syndrome pandemic, researchers have realized that this lentivirus, engineered to be devoid of any pathogenic elements, can be an effective gene transfer vector. (jove.com)
  • GTPase
  • 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)
  • 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)
  • myelodysplastic syndrome
  • JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. (abcam.com)
  • Although several of these disorders also predispose individuals to solid tumors, certain conditions exist in which individuals are specifically at increased risk to develop myelodysplastic syndrome (MDS) and/or acute leukemia. (aacrjournals.org)
  • familial
  • Li-Fraumeni syndrome (LFS) and familial platelet disorder with associated myeloid malignancy (FPD/AMM)], many have only recently been discovered [e.g. (aacrjournals.org)
  • JMML
  • Defects in KRAS are a cause of juvenile myelomonocytic leukemia (JMML) [MIM: (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)
  • In this chapter, we review the diagnostic, clinical, and molecular aspects of Noonan syndrome and rhGH treatment of short stature in these patients. (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)
  • 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)