Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To understand how human corneal endothelium compensates for cell loss, nuclear DNA-cytofluorometry and cell morphometry were carried out on injured corneal endothelium. The examined corneas included two cases of keratoconus complicated with acute hydrops and one without acute hydrops, two cases of herpetic keratitis, one case of post-intracapsular cataract extraction (post-ICCE) and one case of luetic keratitis. The endothelial cell layer was separated from Descemet's membrane and double-stained with Rhodamine-labeled wheat germ agglutinin-lectin (WGA) and 4',6-diamidino-2-phenylindole dihydrochloride (DAPI). The area of each cell was measured with a color image analyser and compared with its cytofluorometric nuclear DNA content. The endothelium in apparently intact regions of the diseased corneas showed the same DNA-ploidy pattern and cell area as the physiological corneas. However, endothelial cells in injured regions had greater area, even in diploidy, than in presumably normal ones and showed a larger number of hyperploid cells ranging from 4C to 36C. Hyperploid cells consisted of many multinucleates and few polyploidies and had extremely large and bizarre cytoplasm. All injured corneas were accompanied by cells with numerous micronuclei. A few asymmetrical 4C-binucleates (with DNA values such as 1.3 plus 2.6C) appeared in the case of the post-ICCE. It is concluded that damage to human corneal endothelial cells in vivo results in cell enlargement with or without DNA synthesis. Those changes appear more severe in diseased corneas than in the situation of physiological aging which we have reported previously. In severe cases, micronuclei, polyploid cells and multinucleated giant cells are frequent, thereby suggesting a possible long-persistent metabolic impairment of the endothelium after severe damage to the cornea.
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PMID:Changes in nuclear DNA content and cell size of injured human corneal endothelium. 340 92

We report on a previously apparently undescribed Puretic syndrome-like self-limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis. Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condition.
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PMID:Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family. 622 20