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  • LEOPARD
  • The mutations that cause Leopard syndrome are restricted regions affecting the catalytic core of the enzyme producing catalytically impaired Shp2 variants. (wikipedia.org)
  • 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)
  • Shp2
  • Understanding the normal mechanism of action of Shp2 and how disease-associated Shp2 mutations perturb its function are the main goals of Dr. Neel's research program. (cancer.gov)
  • They also are screening various forms of human tumors for Shp2 mutations. (cancer.gov)
  • 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 characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (nih.gov)
  • melanoma
  • Mutations which change amino acid residues 12, 13 or 61 activate the potential of N-ras to transform cultured cells and are implicated in a variety of human tumors e.g. melanoma. (wikipedia.org)
  • malignancies
  • Hematologic malignancies occurred most frequently, while 2 malignancies not previously observed in Noonan syndrome were found: a malignant mastocytosis and malignant epithelioid angiosarcoma. (medscape.com)
  • defects
  • Our studies indicate that the cardiac defects associated with the introduction of the Noonan-associated SHP-2 mutations are coupled with a delay or arrest of the cardiac cell cycle in M-phase and a failure of cardiomyocyte progenitors to incorporate into the developing heart. (biologists.org)
  • amino
  • A single amino acid substitution, and in particular a single nucleotide substitution, is responsible for an activating mutation. (wikipedia.org)
  • commonly
  • The physiological importance of Ras' GTPase activity was recognized in the late 80s through the detection and biochemical characterization of GTPase impairing Ras mutations commonly found in various human tumor tissues ( 6 ). (frontiersin.org)
  • catalytic
  • Most of these mutations disrupt the binding interface between the N-SH2 domain and catalytic core necessary for the enzyme to maintain its auto-inhibited conformation. (wikipedia.org)