• KRAS
  • Lung adenocarcinoma is comprised of distinct mutational subtypes characterized by mutually exclusive oncogenic mutations in RTK/RAS pathway members KRAS, EGFR, BRAF and ERBB2, and translocations involving ALK, RET and ROS1. (semanticscholar.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)
  • long arm of chromosome
  • Small chromosomal abnormalities also frequently lead to congenital heart disease, and examples include microdeletion of the long arm of chromosome 22 (22q11, DiGeorge syndrome), the long arm of chromosome 1 (1q21), the short arm of chromosome 8 (8p23) and many other, less recurrent regions of the genome, as shown by high resolution genome-wide screening (Array comparative genomic hybridization). (wikipedia.org)
  • clinical
  • Case presentation: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. (diva-portal.org)
  • 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)
  • Therefore, it is thought that dysregulation of this pathway during development is responsible for many of the clinical features of this syndrome. (wikipedia.org)
  • protein
  • Mutations in the Ras/mitogen activated protein kinase signaling pathways are known to be responsible for ~70% of NS cases. (wikipedia.org)
  • The gene was so named because the Sos protein that it encoded was found to operate downstream of the sevenless gene in Drosophila melanogaster in a Ras/MAP kinase pathway. (wikipedia.org)
  • 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)
  • In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to result in hyper-activated, or unregulated mutant forms of the protein. (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)
  • 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)
  • LRP2 gene mutations that cause Donnai-Barrow syndrome are believed to result in the absence of functional megalin protein. (wikipedia.org)
  • The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. (wikipedia.org)
  • proteins
  • 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)
  • mitogen
  • 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)
  • LEOPARD Syndrome
  • An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. (wikipedia.org)
  • The Boston team, led by Dr. Maria Kontaridis, Assistant Professor of Medicine Harvard Medical School and Division of Cardiology, BIDMC, investigated LEOPARD Syndrome. (regenerativemedicine.net)
  • The Boston group found that LEOPARD Syndrome results from excessive activity of a different enzyme downstream of RAS, called mTOR. (regenerativemedicine.net)
  • Using the mTOR inhibitor Rapamycin, which is already approved as an immunosuppressant, they were able to reverse HCM in their mouse model of LEOPARD Syndrome. (regenerativemedicine.net)
  • The mutations that cause Leopard syndrome are restricted regions affecting the catalytic core of the enzyme producing catalytically impaired Shp2 variants. (wikipedia.org)
  • hepatic
  • J:112804 Calmont A, Wandzioch E, Tremblay KD, Minowada G, Kaestner KH, Martin GR, Zaret KS, An FGF response pathway that mediates hepatic gene induction in embryonic endoderm cells. (jax.org)
  • patients
  • Additionally, similarly to Turner syndrome, growth velocity and final height of Noonan syndrome patients can be improved by recombinant human growth hormone treatment. (springer.com)
  • There have been few reports of patients with Noonan syndrome who have subsequently suffered from Malignant Hyperthermia (MH). (wikipedia.org)
  • Additional dermatologic abnormalities (axillary freckling, localized hypopigmentation, interdigital webbing, hyperelastic skin) Mild mental retardation is observed in about 30% of those affected with the syndrome Nystagmus (involuntary eye movements), seizures, or hyposmia (reduced ability to smell) has been documented in a few patients In 2004, a patient was reported with recurrent upper extremity aneurysms that required surgical repairs. (wikipedia.org)
  • disorders
  • Even though these syndromes share some overlapping features, genotype-phenotype correlations are well established for each of these, supporting the idea that they represent clinically distinct disorders. (els.net)
  • 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)
  • EGFR
  • 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)
  • absent
  • Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. (pubfacts.com)
  • In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. (wikipedia.org)
  • fragile X syndro
  • 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)
  • signal
  • 6 This GM-CSF hypersensitivity results from continuous activation of the GM-CSF-receptor-RAS-RAF-MEK-ERK signal transduction pathway. (haematologica.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)
  • abnormalities
  • 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)
  • Individuals with Donnai-Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). (wikipedia.org)
  • Occasionally people with Donnai-Barrow syndrome have abnormalities of the intestine, heart, or other organs and scoliosis. (wikipedia.org)