cilia-related diseases
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Molecular medicine
Articles
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ciliopathies
25 October 2006 -
molecular hepatology
6 March 2004anomalies of bile metabolism
PFIC
cirrhosis
hepatic fibrosis
viral hepatitis -
developmental programmed cell death
25 June 2003 -
ANK2
1 July 2003ankyrin-B, ankyrin-2
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protein kinases
3 December 2003kinases, kinase
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haploinsufficiency
22 September 2003Definition: 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 2010Ribosomopathies 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 2003References
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 2003Molecular 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 2003Features
The paternal-age effect in Apert’s Syndrome is due, in part, to the increased frequency of mutations in Sperm (#12900791#).