• LEOPARD
  • Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. (origene.com)
  • Interestingly, patients with acute myelogenous leukemia (AML), acute lymphoblastic leukemia (ALL), juvenile myelomonocytic leukemia (JMML) and LEOPARD syndrome frequently carry a second, somatically introduced subset of missense mutations in SHP-2. (biologists.org)
  • Despite the crucial role for SHP-2 in cardiac development and disease, the endogenous role for SHP-2 in heart development and its function in Noonan syndrome, AML, ALL, JMML and LEOPARD syndrome remains poorly defined. (biologists.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)
  • abnormalities
  • This misregulation can result in the heart defects, growth problems, skeletal abnormalities, and other features of Noonan syndrome. (nih.gov)
  • Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. (bireme.br)
  • 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)
  • 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)
  • human
  • To address these issues further and to identify the cellular and biochemical pathways that function downstream of SHP-2 in heart development, we generated the most prevalent human Noonan and JMML mutations in SHP-2 and introduced these into Xenopus . (biologists.org)
  • Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • Mutations to this gene have been implicated in a number of human cancers, particularly acute myeloid leukaemia. (wikipedia.org)
  • Human A2ML1 genome location and A2ML1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • The latter became the focus of research in recent years, since a large portion of human tumors carry oncogenic 'driver' mutations in the B-Raf gene. (wikipedia.org)
  • MEK1
  • Subsequent experiments showed that the normal, cellular Raf genes can also mutate to become oncogenes, by "overdriving" MEK1/2 and ERK1/2 activity. (wikipedia.org)
  • transcript
  • However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)
  • This database is built by NCBI, and, provides only a single record for each gene/transcript. (origene.com)
  • Two transcript variants encoding different isoforms have been found for this gene. (genetex.com)
  • Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. (invitae.com)
  • Patients
  • There have been few reports of patients with Noonan syndrome who have subsequently suffered from Malignant Hyperthermia (MH). (wikipedia.org)
  • 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)
  • sequence
  • The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)
  • GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligase activity . (genecards.org)
  • It is highly enriched in serine amino acids, but its precise sequence is poorly conserved across related Raf genes. (wikipedia.org)
  • cardiac
  • 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)
  • A number of genes have been associated with cardiac manifestations. (wikipedia.org)
  • Chromosomal
  • In 1989 a virally encoded portion of the chromosomal mouse Cbl gene was the first member of the Cbl family to be discovered and was named v-Cbl to distinguish it from normal mouse c-Cbl. (wikipedia.org)