Molecular medicine

Articles

• protein kinases
  3 December 2003

  kinases, kinase

• proteolysis
  19 July 2003

  Types
  ubiquitin-independent proteolysis
  ubiquitin-dependent proteolysis
  Pathology of proteolysis
  Anomalies of proteases genes (53 human diseases are caused by mutations in protease genes)
  nonsyndromic deafness (transmembrane serine protease TMPRSS3)
  early-onset familial Alzheimer’s disease (presenilin-1 PSEN1 and presenilin-2 PSEN2)
  pycnodysostosis (cathepsin-K CTSK) (MIM.265800)
  Papillon-Lefevre and Haim-Munk syndrome (MIM.245000)
  limb-girdle muscular dystrophy type 2A (...)

• haploinsufficiency
  22 September 2003

  Definition: A gene dosage effect that occurs when a diploid requires both functional copies of a gene for a wild-type phenotype. An organism that is heterozygous for a haploinsufficient locus does not have a wild-type phenotype.
  Thus, it cam be considered as a phenotypic state that results from loss of one functional allele of any given gene in diploid cells. Sometimes also called allelic insufficiency.
  See also
  mutations genic (...)

• 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 (...)

• disease-predisposing mutations
  1 October 2003

  References
  Steward RE, MacArthur MW, Laskowski RA, Thornton JM. Molecular basis of inherited diseases : a structural perspective. Trends Genet. 2003 Sep ;19(9):505-13. PMID : #12957544#

• ciliopathies
  25 October 2006

  cilia-related diseases

• 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 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#

• tauopathies
  17 October 2003

  taupathies, tau-mediated neurodegeneration

• channelopathies
  29 September 2003

  ion channel disorders, ion channel diseases

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