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)

The expression of T6 antigen within hair follicles in alopecia areata was studied using the APAAP technique (alkaline phosphatase monoclonal anti-alkaline phosphatase method). Scalp biopsies were taken from 15 subjects with alopecia areata, nine in an active stage and 6 in a stationary stage of the disease. Six-micrometer-thick frozen sections were stained with OKT6 antiserum. OKT6 are monoclonal antibodies raised against human thymocytes; they cross-react with epidermal Langerhans cells and are a highly specific marker. Nine of the specimens displayed T6 staining on keratinocytes in the bulb matrix, and all nine were from the subjects presenting the active stage of disease. The specimens from the other six biopsies, from subjects in a stationary stage, did not show T6 staining of bulbar keratinocytes. Moreover, in four of the active-stage cases we found T6 staining also on epidermal keratinocytes.
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PMID:Expression of T6 antigen on keratinocytes in alopecia areata. 155 31

The authors examined 2 groups of patients treated in the Department of Dermatology in Lublin: I--acne phlegmonosa patients, II--alopecia areata patients. In the I group the zinc content was examined in hair using the atomic absorption spectrophotometry method (ASA). The results obtained with this method were analysed in comparison with the zinc content in serum measured indirectly by the alkaline phosphatase activity. In the II group the zinc levels were determined in serum using the atomic absorption spectrophotometry method and next the results were compared with the alkaline phosphatase activities in serum in these patients. The correlation was stated between both the zinc level in hair, in serum and the alkaline phosphatase activity in serum.
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PMID:[Study of the zinc content of hair and serum in selected skin diseases]. 167 26

For unknown reasons, the pilosebaceous unit displays prominent alkaline phosphatase (AP) activity, and alterations in AP activity are seen in alopecia areata. The role of AP in hair biology and pathology has been obscured by contradictory reports on the localization and activity of AP during the hair cycle, and by a paucity of instructive models for studying AP functions. Using the C57 BL-6 mouse model for hair research, we have characterized endogenous AP with a simple histochemical developing solution routinely employed for AP immunohistology. This method was selective for AP, and revealed distinctive hair cycle-dependent changes in AP activity and localization. Although the dermal papilla displays unusually strong AP activity during the entire hair cycle, the outer root sheath is AP-positive only during late anagen and early catagen. Strong, rather homogeneous AP activity is seen in the sebaceous gland (SG) only during catagen and telogen. This AP staining pattern indicates hair cycle-dependent changes in SG functions, and differs to some extent from the previously reported AP activity during the hair cycle of various species. We propose a simple and effective technique for follicle classification based on the AP histochemistry of dermal papilla and sebaceous gland, and discuss uses of the C57 BL-6 mouse model for functional AP studies.
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PMID:Alkaline phosphatase activity and localization during the murine hair cycle. 791 3

Hereditary vitamin D-resistant rickets type or vitamin D-dependent rickets type II is a genetically determined and rare autosomal recessive disorder, most often caused by mutations in the vitamin D receptor gene. It usually presents with rachitic changes not responsive to vitamin D treatment and the circulating levels of 1,25 (OH)2 vitamin D-3 are elevated, differentiating it from vitamin D-dependent rickets type I. Alopecia capitis or alopecia totalis is seen in some families with vitamin D-dependent rickets type II. This is usually associated with a more severe phenotype. In this report, we present the clinical findings on a family which exhibited the typical clinical features of hereditary vitamin D-resistant rickets in two siblings. In addition, molecular analysis of the vitamin D receptor gene was performed by sequencing all coding exons. The cardinal findings in the index patient were alopecia totalis, renal tubular acidosis, mild generalized aminoaciduria, refractory rickets, high alkaline phosphatase, and hyperparathyroidism. Other routine biochemical tests were within normal limits, but 1+ glycine was detected in his urine. Skin biopsy results were compatible with alopecia areata. A previous child with similar phenotype was reported to be deceased at the age of 32 months. Mutation analysis of the vitamin D receptor gene by direct sequencing analysis of all coding exons showed a homozygous c.122GA(p.Cys41Tyr) variant in exon 2 with several arguments pointing to a pathogenic effect. We should be aware of this very rare disease whenever we see a patient with refractory rickets and alopecia.
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PMID:Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. 1842 27