Primary ciliary dyskinesia
The immotile cilia syndrome, a condition in which poorly functioning cilia (hairlike projections from cells) in the respiratory tract contribute to retention of secretions and recurrent infection. The condition is inherited as an autosomal recessive trait and is due to mutation in one of several different genes located on chromosomes 5, 9 and 19. About half of patients have Kartagener syndrome (bronchiectasis, sinusitis, and situs inversus in which the normal asymmetry of the body is partially or totally reversed).
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PLP. Also called lipophilin. The most abundant protein of myelin, the covering and insulation around nerves. The gene PLP1 that codes for PLP is on the X chromosome. Mutations in PLP cause Pelizaeus-Merzbacher disease (PMD), an X-linked recessive disorder characterized by loss of myelin. PMD causes nystagmus (rhythmical oscillation of the eyeballs), psychomotor developmental delay, […]
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The complete set of proteins expressed and modified following their expression by the genome. The term “proteome” was coined from the PROTEin complement of the genOME in 1994 by Marc Wilkins, a graduate student at Macquarie University in Australia. The analysis of the proteome is proteomics which Wilkins defined as “the study of proteins, how […]
- Proteomics
The study of the proteome, the complete set of proteins expressed by an organism, tissue, or cell. It includes the study of changes in protein expression patterns as related to diseases and environmental conditions.
- Proteus syndrome
A disturbance of cell growth that causes overgrowth, asymmetry, and gigantism of bones, limbs, skin, and other organs. Its symptoms also include vascular malformations; raised, rough skin; and overgrowth of fat. John Merrick, the 19th-century Englishman known as the ‘elephant man,’ is thought to have had Proteus syndrome. No specific treatment is available.
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Prothrombin mutation G20210A; and Prothrombin time.