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  • lentigines
  • Zeisler and Becker first described the syndrome in 1936 in a 24-year-old woman with progressive generalized lentigines, hypertelorism, pectus carinatum, and prognathism. (medscape.com)
  • 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)
  • congenital
  • The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. (thefreedictionary.com)
  • Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. (medscape.com)
  • The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. (medscape.com)
  • 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)
  • It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. (wikipedia.org)
  • Cross-disciplinary teams of scientists studying genetic pathways that are mutated in many forms of cancer, but which also cause certain forms of congenital heart disease including hypertrophic cardiomyopathy (HCM), a thickening of the heart muscle that is the leading cause of sudden death in children and young adults have introduced these mutations into mice and successfully treated HCM in the lab. (regenerativemedicine.net)
  • By studying two of the most commonly mutated pathways in cancer, discerning the mechanism by which they cause congenital disease, and treating two of these disorders with different drugs, we have identified potential therapeutic targets for human disease," says Dr. Neel. (regenerativemedicine.net)
  • 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)
  • signal transduc
  • 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)
  • 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)
  • 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)
  • 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)
  • protein
  • 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)
  • whereas
  • In 2006, Hanna et al found that Noonan syndrome mutations enhance SHP-2 catalytic activity, whereas the activity of representative LS mutants is undetectable when assayed using a standard PTP substrate. (medscape.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)
  • 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)
  • kinase
  • The Tyr-731 phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. (genecards.org)
  • This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. (wikipedia.org)
  • activators of the MAP kinase pathway. (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)
  • diseases
  • Diseases associated with CBL include Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia and Juvenile Myelomonocytic Leukemia . (genecards.org)
  • Due to the rarity of the syndrome itself, it is hard to determine whether certain additional diseases are actually part of the syndrome. (wikipedia.org)
  • developmental
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • Tissue
  • 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)
  • different
  • While core components of the microRNA pathway are conserved between plants and animals, miRNA repertoires in the two kingdoms appear to have emerged independently with different primary modes of action. (wikipedia.org)
  • Light and motion are processed via different pathways, suggesting diffuse or global excitability alterations. (wikipedia.org)
  • found
  • This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. (genecards.org)
  • known
  • The optic radiation (also known as the geniculo-calcarine tract or as the geniculostriate pathway ) is a collection of axons from r. (mediconotebook.com)
  • signal
  • 6 This GM-CSF hypersensitivity results from continuous activation of the GM-CSF-receptor-RAS-RAF-MEK-ERK signal transduction pathway. (haematologica.org)
  • factor
  • due to its activation by FXIIa, FXI is a member of the "contact pathway" (which includes HMWK, prekallikrein, factor XII, factor XI, and factor IX). (wikipedia.org)
  • short
  • miRNAs resemble the small interfering RNAs (siRNAs) of the RNA interference (RNAi) pathway, except miRNAs derive from regions of RNA transcripts that fold back on themselves to form short hairpins, whereas siRNAs derive from longer regions of double-stranded RNA. (wikipedia.org)