Disease group (molecular)

Articles

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• cardiac channelopathies
  18 March 2004

  In arrhythmogenic disorders, the long QT syndromes and Brugada syndrome, mutations have been described in a number of ion channel proteins, including cardiac potassium (KVLQT1, HERG and minK) and sodium (SCN5A) channels.

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

• channelopathies
  29 September 2003

  ion channel disorders, ion channel diseases

• NOD2-associated autoinflammatory disease
  10 July 2012

  NOD2-associated diseases. NAID
  Definition: NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.
  Mutations in the gene encoding NOD2 in humans have been associated with Crohn’s disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS).
  These diseases have in common features of dysregulated inflammation, but have very distinct phenotypes, which have been hypothesized to result from either (...)

• OXPHOS diseases
  27 January 2005

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

• laminopathies
  15 September 2003

  ’Laminopathies’ are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types.
  Laminopathies comprise a group of inherited diseases with variable clinical phenotypes, caused by mutations in the lamin A/C gene (LMNA).
  A prominent feature in several of these diseases is muscle wasting, as seen in Emery Dreifuss muscle dystrophy, dilated cardiomyopathy and limb-girdle muscular (...)

• serpinopathies
  24 January 2006

  In humans, several serpin mutations are linked to diseases.
  Serpins are vulnerable to mutations that result in protein misfolding and the formation of inactive long chain polymers (serpinopathies).
  Serpin polymerisation reduces the amount of active inhibitor, as well as accumulation of serpin polymers causing cell death and organ failure.
  For example, the serpin alpha1-antitrypsin is primarily produced in the liver, and antitrypsin polymerisation causes hepatocytic necrosis and liver (...)

• WT1-associated diseases
  11 May 2004

  WT1 mutations-associated disorders, WT1-related diseases, WT1-related 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, (...)

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