Molecular medicine

Articles

• 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 (...)

• haploinsufficiency
  22 September 2003

  Definition: A gene dosage effect that occurs when a diploid requires both functional copies of a gene for a wild-type phenotype. An organism that is heterozygous for a haploinsufficient locus does not have a wild-type phenotype.
  Thus, it cam be considered as a phenotypic state that results from loss of one functional allele of any given gene in diploid cells. Sometimes also called allelic insufficiency.
  See also
  mutations genic (...)

• channelopathies
  29 September 2003

  ion channel disorders, ion channel diseases

• disease-predisposing mutations
  1 October 2003

  References
  Steward RE, MacArthur MW, Laskowski RA, Thornton JM. Molecular basis of inherited diseases : a structural perspective. Trends Genet. 2003 Sep ;19(9):505-13. PMID : #12957544#

• linkage disequilibrium blocks
  1 October 2003

  Regions of extensive linkage disequilibrium, extensive linkage disequilibrium

• molecular angiology
  3 October 2003

  References
  Towbin JA, Casey B, Belmont J. The molecular basis of vascular disorders. Am J Hum Genet. 1999 Mar;64(3):678-84. PMID: #10053000#

• molecular pneumology
  17 September 2003

  Features
  anomalies of surfactant alveolar proteinosis
  primary ciliary dyskinesia
  mucus anomalies cystic fibrosis
  asthma
  alpha-1-antitrypsin deficiency

• mutational asymmetry
  22 September 2003

  The rates of different types of nucleotide substitutions are known to depend on factors such as methylation status and nearest-neighbor nucleotide effects. However, until recently, in eukaryotes, the rates have not been considered to be strand specific.
  In a recent analysis of mammalian lineages, Green et al. (2003) uncovered an asymmetry in the frequencies of substitutions on the coding and noncoding strands of genes and showed that this resulted in a nucleotide-content asymmetry within (...)

• contiguous gene syndromes
  22 September 2003

  Exemples:
  Miller-Dieker syndrome
  Smith-Magenis syndrome (interstitial deletion of 17p11.2) (TOP3 - RAI1)
  WAGR syndrome (interstitial deletion of 11p13) (WT1 - PAX6)
  Williams-Beuren syndrome (elastin locus at 7q11.23)
  See also
  deletion syndromes (DS)

• paternal-age effect
  22 September 2003

  Features
  The paternal-age effect in Apert’s Syndrome is due, in part, to the increased frequency of mutations in Sperm (#12900791#).

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