Disease group (molecular)

Articles

• polyalanine repeat diseases
  23 April 2004

  polyalanine expansion diseases

• TGF-beta signaling-associated diseases
  20 April 2004

  TGF-beta-associated disorders, TGF-beta-associated diseases

• connexinopathies
  20 April 2004

  Classification by connexin
  connexin-26 (GJB2) (MIM.121011)
  mutations in type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
  autosomal dominant deafness (DFNA3) (MIM.601544)
  autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
  palmoplantar keratoderma with deafness (MIM.148350)
  hystrix-like ichthyosis (MIM.602540)
  mutilating keratoderma with ichthyosis (Vohwinkel’s syndrome with ichtyosis)(MIM.604117)
  connexin-30 (GJB6) (MIM.604418) (...)

• keratinopathies
  18 March 2004

  See also
  keratinopathic ichtyoses
  References
  Keratin gene mutations in disorders of human skin and its appendages. Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. PMID: #21176769#
  Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004 Nov;204(4):355-66. PMID: #15495218#
  Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet. 2004 Nov 15;131C(1):4-11. PMID: #15452838#
  Whittock NV, Ashton GH, (...)

• 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
• 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 (...)

• 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#

• OXPHOS diseases
  27 January 2005

  OXPHOS deficiency, anomalies of oxydative phosphorylation, mitochondrial respiratory-chain diseases, mitochondrial cytopathy, mitochondriopathies

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