• kinase signal transdu
  • A common feature of these genes is that their products have all been strongly implicated as positive regulators of the Ras/MAP kinase signal transduction pathway. (wikipedia.org)
  • As an essential component of the MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. (wikipedia.org)
  • proteins
  • Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway. (wikipedia.org)
  • When one of the proteins in the pathway is mutated, it can become stuck in the "on" or "off" position, which is a necessary step in the development of many cancers. (wikipedia.org)
  • It's not certain the same effect would be seen in the many clinical cases of HCM that are not influenced by BRAF or the RAS pathway-essentially a chain of cellular proteins that help transmit signals from surface receptors on the cell to DNA in the nucleus -but researchers believe this could be the case. (superdoctors.com)
  • protein
  • This protein functions as a signal transducer for a wide variety of signaling pathways, including those promoting neural and bone formation as well as tumor growth. (wikipedia.org)
  • The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. (wikipedia.org)
  • 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)
  • The c-Raf protein is part of the ERK1/2 pathway as a MAP kinase kinase kinase (MAP3K) that functions downstream of the Ras subfamily of membrane associated GTPases. (wikipedia.org)
  • This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. (wikipedia.org)
  • SLiM functions in almost every pathway due to their critical role in regulatory function, protein-protein interaction and signal transduction. (wikipedia.org)
  • abnormalities
  • This misregulation can result in the heart defects, growth problems, skeletal abnormalities, and other features of Noonan syndrome. (nih.gov)
  • In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. (wikipedia.org)
  • Dysregulation
  • 4 Dysregulation of T lymphocytes in this pathway appears to play an important role in the development of autoimmunity in general and systemic lupus erythematosus in particular. (aappublications.org)
  • regulates
  • Specifically, the pathway regulates the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). (nih.gov)
  • phenotypes
  • While the deletion causes phenotypes reportedly associated with the chromosome 6pter-p24 deletion syndrome, the reciprocal duplication may have no or minimal phenotypic effect, suggesting possible triploinsensitivity of the same region. (springer.com)
  • facial
  • Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. (pubfacts.com)
  • Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (nih.gov)
  • cell
  • 7 Somatic mutations in this pathway are frequently found in JMML, are mutually exclusive and result in continuous activation and cell proliferation. (haematologica.org)
  • These pathways lead to cell growth and survival, cytoskeletal organization, or changes in transcription. (the-scientist.com)
  • Apart from EGFR, other cell surface receptors that can activate this pathway via GRB2 include Trk A/B, Fibroblast growth factor receptor (FGFR) and PDGFR. (wikipedia.org)
  • Role of mitogen signaling in cell cycle progression The ERK pathway plays an important role of integrating external signals from the presence of mitogens such as epidermal growth factor (EGF) into signaling events promoting cell growth and proliferation in many mammalian cell types. (wikipedia.org)
  • M-Ras has been found to induce Akt kinase activity in the PI3-K pathway, and it may play a role in cell survival of neural-derived cells. (wikipedia.org)
  • These enzymes are key regulatory components in signal transduction pathways (such as the MAP kinase pathway) and cell cycle control, and are important in the control of cell growth, proliferation, differentiation, transformation, and synaptic plasticity. (wikipedia.org)
  • signal
  • 6 This GM-CSF hypersensitivity results from continuous activation of the GM-CSF-receptor-RAS-RAF-MEK-ERK signal transduction pathway. (haematologica.org)
  • common
  • Among its related pathways are Transcription Androgen Receptor nuclear signaling and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways . (genecards.org)
  • Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. (bireme.br)
  • These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the body. (wikipedia.org)
  • schizophrenia
  • Elevated levels of activated PTPN5 negatively affects synaptic stability and plays a role in Alzheimer's disease, Fragile X Syndrome schizophrenia, and Parkinson's disease. (wikipedia.org)