Molecular medicine

Articles

• ciliopathies
  25 October 2006

  cilia-related diseases

• molecular hepatology
  6 March 2004

  anomalies of bile metabolism
  PFIC
  cirrhosis
  hepatic fibrosis
  viral hepatitis

• developmental programmed cell death
  25 June 2003
• ANK2
  1 July 2003

  ankyrin-B, ankyrin-2

• protein kinases
  3 December 2003

  kinases, kinase

• 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 (...)

• 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 (...)

• molecular psychiatry
  16 June 2003

  References
  Gray L, Hannan AJ. Dissecting cause and effect in the pathogenesis of psychiatric disorders: genes, environment and behaviour. Curr Mol Med. 2007 Aug;7(5):470-8. PMID: #17691962#
  Lehrmann E, Hyde TM, Vawter MP, Becker KG, Kleinman JE, Freed WJ. The use of microarrays to characterize neuropsychiatric disorders: postmortem studies of substance abuse and schizophrenia. Curr Mol Med. 2003 Aug;3(5):437-46. PMID: #12942997#
  Voshol H, Glucksman MJ, van Oostrum J. Proteomics in the (...)

• molecular pathology
  19 July 2003

  Molecular medicine began with Pauling’s seminal work, which recognized sickle-cell anemia as a molecular disease, and with Ingram’s demonstration of a specific chemical difference between the hemoglobins of normal and sickled human red blood cells.
  Part I. Pathology of molecules
  1. Pathology of DNA
  DNA mutations
  DNA replication
  DNA repair
  molecular checkpoints
  polyglutamine diseases
  2. Pathology of RNA
  transcription and RNA synthesis
  RNA processing, RNA splicing, RNA (...)

• 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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