Disease group (molecular)

Articles

• G protein diseases
  8 February 2006

  See also
  G proteins
  References
  Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999 Apr 1;340(13):1012-20. PMID: #10099144#

• ciliopathies
  25 October 2006

  cilia-related diseases

• ribosomopathies
  30 March 2010

  Ribosomopathies comprise a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes.
  Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia.
  Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes:
  Shwachman-Diamond syndrome (...)

• WT1-associated diseases
  11 May 2004

  WT1 mutations-associated disorders, WT1-related diseases, WT1-related disorders

• desminopathies
  19 March 2004

  Group of diseases caused by anomalies of desmin.
  Types (exemples)
  desmin myopathy
  Synopsis
  granulofilamentous deposits of mutated desmin
  References
  Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#
  Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: #12555134#
  Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans (...)

• sarcoglycanopathies
  19 March 2004
• porphyrias
  4 February 2006

  porphyria

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• 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 (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

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