Molecular medicine

Articles

• ciliopathies
  25 October 2006

  cilia-related diseases

• fusion proteins
  19 July 2003

  genic fusion, fusion genes, fusion transcripts

• molecular psychiatry
  16 June 2003

  References
  Gray L, Hannan AJ. Dissecting cause and effect in the pathogenesis of psychiatric disorders: genes, environment and behaviour. Curr Mol Med. 2007 Aug;7(5):470-8. PMID: #17691962#
  Lehrmann E, Hyde TM, Vawter MP, Becker KG, Kleinman JE, Freed WJ. The use of microarrays to characterize neuropsychiatric disorders: postmortem studies of substance abuse and schizophrenia. Curr Mol Med. 2003 Aug;3(5):437-46. PMID: #12942997#
  Voshol H, Glucksman MJ, van Oostrum J. Proteomics in the (...)

• ANK2
  1 July 2003

  ankyrin-B, ankyrin-2

• gain-of-glycosylation mutations
  17 July 2007

  Disease-causing missense (and other in-frame) mutations can exert their deleterious effects at the cellular level through multiple mechanisms.
  A pathogenic mechanism involves the addition of a novel N-linked glycan. Up to 1.4% of known disease-causing missense mutations are predicted to give rise to gains-of-glycosylation.
  For some of these mutations, the novel glycans have been shown to be both necessary and sufficient to account for the deleterious impact of the mutation.
  The chemical (...)

• molecular pathology
  19 July 2003

  Molecular medicine began with Pauling’s seminal work, which recognized sickle-cell anemia as a molecular disease, and with Ingram’s demonstration of a specific chemical difference between the hemoglobins of normal and sickled human red blood cells.
  Part I. Pathology of molecules
  1. Pathology of DNA
  DNA mutations
  DNA replication
  DNA repair
  molecular checkpoints
  polyglutamine diseases
  2. Pathology of RNA
  transcription and RNA synthesis
  RNA processing, RNA splicing, RNA (...)

• desminopathies
  17 April 2005

  Types
  primary desminopathy
  secondary desminopathy CRYAB mutations

• anomalies of alternative splicing
  8 July 2007

  Human genes contain a dense array of diverse cis-acting elements that make up a code required for the expression of correctly spliced mRNAs. Alternative splicing generates a highly dynamic human proteome through networks of coordinated splicing events.
  Cis- and trans-acting mutations that disrupt the splicing code or the machinery required for splicing and its regulation have roles in various diseases, and recent studies have provided new insights into the mechanisms by which these effects (...)

• molecular angiology
  3 October 2003

  References
  Towbin JA, Casey B, Belmont J. The molecular basis of vascular disorders. Am J Hum Genet. 1999 Mar;64(3):678-84. PMID: #10053000#

• molecular dermatology
  15 September 2003

  pathology of hemidesmosomes
  pathology of the basal membrane
  dermal conjonctive tissue

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