Group of diseases

Articles

• Hedgehog-signaling related diseases
  25 November 2003

  Hh-signaling related diseases

• polyglutamine repeat diseases
  16 July 2003

  expanded polyglutamine neurodegenerative disorders, polyQ diseases, polyglutamine disorders, triplet repeat neurodegenerative diseases, polyglutamine diseases, (CAG)n diseases

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• DNA repair diseases
  20 June 2005

  DNA repair disorders

• translation diseases
  4 February 2006

  Definition: Pathology of RNA translation.
  The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity.
  Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition (...)

• infections and infestations
  8 December 2004

  INFECTION and INFESTATIONS, CUTANEOUS
  - Bacterial
  - Viral
  - Fungal
  - Spirochetal
  - Protozoal
  - Helminth
  — Nematode (round worm)- 2mm-35cm round and slender nonsegmented body with collagenous epicuticle surrounding a coelomique cavity containing sexually reproductive organs and digestive tract.
  — - zoonotic north american Brugia
  — - enterobius vermicularis
  — - onchocerciasis
  — - lymphatic filariasis (Wuchereria bancorfti, Brugia malayi..)
  — - dirofilariasia conjunctivae infection
  — - (...)

• peroxisomal diseases
  23 September 2003

  peroxisome-biogenesis disorders, peroxisome biogenesis disorders, peroxysomal disorders, peroxisome biogenesis disorders, Zellweger syndrome spectrum

• mitochondrial diseases
  28 May 2003

  mitochondrial cytopathy, mitochondriopathies, mitochondrial defects, mitochondrial cytopathies, mitochondrial disorders

• osteodysplasias
  6 October 2003

  bone dysplasias

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