Rare Diseases Symptoms Automatic Extraction

Proteomic revelations.

[dystrophic epidermolysis bullosa]

The power of proteomics in cultured skin fibroblasts from individuals with either systemic sclerosis or recessive dystrophic epidermolysis bullosa has led to the common finding of senescence and deficiencies in autophagy. Both of these disorders exert high demand on fibroblast activity, and without the protective action of autophagy cellular stress could have many adverse effects that are further amplified by the senescent phenotype.

Diseases presenting "skin fibroblasts" symptom

  • child syndrome
  • cowden syndrome
  • cystinuria
  • dentinogenesis imperfecta
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • krabbe disease
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • pyruvate dehydrogenase deficiency
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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