Disease group (molecular)

Articles

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• ciliopathies
  25 October 2006

  cilia-related diseases

• telomeric diseases
  16 February 2006

  telomere diseases

• WT1-associated diseases
  11 May 2004

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

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

• 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, (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• sarcomyopathies
  18 March 2004

  sarcomeropathies, sarcomeric protein diseases, inherited disorders of sarcomeric proteins, inherited disorders of contractile proteins in skeletal and cardiac muscle

• myofibrillar myopathies
  7 March 2004

  The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
  Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...)

• surplus protein myopathies
  19 March 2004

  Sporadic and familial neuromuscular conditions marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy.
  desminopathies: mutations in the desmin and alpha-B crystallin genes
  actinopathy: mutations in the actin gene
  surplus sarcoplasmic and/or intranuclear nemaline bodies mutation in tropomyosin-3 mutation in actin mutation in nebulin
  References
  Goebel HH, Warlo IA. Surplus protein (...)

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