Molecular lesions

Articles

• missense mutations
  14 October 2003

  Disease-causing missense (and other in-frame) mutations can exert their deleterious effects at the cellular level through multiple mechanisms.
  The deleterious effects of missense mutations are commonly attributed to their impact on primary amino acid sequence and protein structure.
  Exonic splicing enhancers
  Some missense mutations are deleterious because they disturb cis-acting splicing elements-so-called "exonic splicing enhancers" (ESEs).
  Gain-of-glycosylation mutations
  A pathogenic (...)

• DNA double-strand breaks
  19 November 2003

  Double strand breaks, DNA double strand breaks

• ubiquitin-positive deposits
  29 November 2004

  Types
  intra-cellular deposits ubiquitin-containing cellular inclusions
  extra-cellular deposits
  Pathology
  ubiquitin-positive deposits found in patients with Alzheimer disease (AD).
  See also
  ubiquitin-proteasome complex

• DNA single-strand breaks
  7 March 2006

  DNA single strand damage, DNA single strand breaks, SSBs

• 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 (...)

• epimutations
  2 October 2003

  epigenetic silencing, (epi)mutations

• gene mutation
  29 September 2003

  DNA mutations

• somatic mutations
  3 December 2003

  Pathology
  somatic mutations in tumors
  somatic mutations in diseases neurofibromatosis 1 neurofibromatosis 2 incontinentia pigmenti paroxysmal nocturnal hemoglobinuria fibrous dysplasia (activating somatic mutations of the Gs alpha gene) (#8541861#) Proteus syndrome Klippel-Trenaunay syndrome Maffuci syndrome
  News
  DNA Double Take. http://www.nytimes.com/2013/09/17/science/dna-double-take.html?_r=0
  See also
  somatic mutation detection
  References
  Dalgliesh GL, Futreal PA. The (...)

• protein lesions
  6 March 2004