Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a patient with a syndrome characterized by smooth facial papules and nodules; alopecia of the eyebrows, eyelashes, and most body hair; mild alopecia of scalp hair; possibly hypohidrosis; and myasthenia gravis. The clinical, histologic, and immunohistochemical findings are compared with classic and desmoplastic trichoepitheliomas. All fourteen biopsy specimens of the patient showed a lacelike network of basaloid cells with follicular differentiation and a prominent stroma with focal alkaline phosphatase activity, as in fourteen comparison specimens of classic trichoepithelioma. Studies with antikeratin antibodies of various specificities also revealed similar patterns. The tumor cells showed a keratin phenotype characteristic of cells of the infrainfundibular outer root sheath, that is, positive staining with basal keratinocyte markers, negative staining with suprabasal keratinocyte markers, and patchy staining with LP2K (against keratin 19). beta 2-Microglobulin expression was partially or totally absent. It is concluded that the lesions in our patient actually are trichoepitheliomas. The condition may represent a new syndrome that either is closely related to the generalized hair follicle hamartoma (basaloid follicular hamartoma) or is a variant. The finding of generalized trichoepitheliomas with clinical and microscopic alopecia should alert one to the possibility of myasthenia gravis.
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PMID:Generalized trichoepitheliomas with alopecia and myasthenia gravis: clinicopathologic and immunohistochemical study and comparison with classic and desmoplastic trichoepithelioma. 377 60

Macromolecular alkaline phosphatase (EC 3.1.3.1) was found in the serum of a patient suffering from myasthenia gravis (adult type II) complicated with thymoma, and was shown by immunoelectrophoresis to be bound to immunoglobulins A and G (IgG). Placental alkaline phosphatase, complexed with either the patient's serum or IgG purified from the patient's serum, remained at the origin on electrophoresis, with significant loss of activity. Intestinal alkaline phosphatase, complexed with either the patient's serum or the patient's IgG, migrated to a position similar to that of the macromolecular alkaline phosphatase in the patient's serum on electrophoresis. About 50% of the placental alkaline phosphatase activity was inhibited with 0.1-0.2 g of the patient's IgG per liter, but 6.93 g of the IgG per liter was required for about 20% inhibition of the intestinal alkaline phosphatase activity. The complex of intestinal alkaline phosphatase with the patient's IgG was fairly heat stable. From these results, we concluded that the macromolecular alkaline phosphatase in the patient's serum consisted of intestinal alkaline phosphatase and IgG that was specific for placental alkaline phosphatase.
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PMID:Macromolecular alkaline phosphatase and an immunoglobulin G that inhibited alkaline phosphatase in a patient's serum. 682 49

A simple and reliable enzyme-linked immunosorbent assay (ELISA) has been developed for the measurement of anti-acetylcholine receptor (AChR) antibodies. The test utilizes a membrane-bound AChR obtained from a human rhabdomyosarcoma cell line (TE671) as antigen and employs an affinity-purified rabbit anti-human immunoglobulin G alkaline phosphatase-conjugated antibody as labelled antibody. To assess the sensitivity and the specificity of our assay we tested serum samples from 13 anti-AChR antibody-positive myasthenia gravis (MG) patients known to contain between 2 and 120 nmol/l of anti-AChR antibody, three anti-AChR antibody-negative MG patients, and 70 control subjects including patients with other neurological and autoimmune diseases. A panel of six different anti-AChR monoclonal antibodies and membranes from a AChR-negative rat adrenal pheochromocytoma cell line (PC 12) were also used in competitive studies. The test showed to be specific and able to detect as low as 2.0 nmol/l of anti-AChR antibodies. Moreover, we found a good correspondence between anti-AChR antibody levels measured in the serum samples tested by our assay and levels measured by the routinely adopted radioimmuno assay (RIA) using human-AChR (r = 0.96). Cross-reaction phenomena were observed only using serum samples containing high-titer anti-DNA antibodies. The proposed ELISA, circumventing the limitation of the commonly used RIA (radioactivity and amputated legs as source of human antigen), can be considered as an useful screening test for the diagnosis of myasthenia gravis.
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PMID:Detection of anti-acetylcholine receptor antibody by an ELISA using human receptor from a rhabdomyosarcoma cell line. 817 22

Anti-alkaline phosphatase antibody (AP Ab) was specific in 9% of 249 anti-acetylcholine receptor (AChR) Ab-positive myasthenia gravis (MG) (SPMG) patients but not in patients with AChR Ab-negative MG (SNMG), other neurological and immunological diseases, or healthy volunteers. No cross-reactivity and no significant titer correlation were found between AP Ab and AChR Ab. We confirmed immunologically by radioimmunoassay and western blot analysis the presence of antibodies directed against AP. AP Ab-positive SPMG patients were characterized clinically as having female predominance and a more severe form of generalized MG than AP Ab-negative SPMG patients, and about half required artificial ventilation at maximum severity. AP Ab's pathogenic role in MG is yet unclarified, but our findings show AP to be a novel antigen among the various autoantigens present in MG patients and in whom AP Ab may modify clinical symptoms.
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PMID:Anti-alkaline phosphatase antibody positive myasthenia gravis. 1762 4