ZIB

Hits per page

hits 1 - 2 | 2 hits

Sorting

Electronic Resource

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma (2004)

He, X-H. ; Zhang, X-N. ; Mao, W. ; [et al.]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 150 (2004), S. 0

add to mindlist on the mindlist

Details

ISSN: 1365-2133

Source: Blackwell Publishing Journal Backfiles 1879-2005

Topics: Medicine

Notes: Background Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by diffuse yellow thickening of the skin of the palms and soles, sharply bordered with erythematous margins. Histologically and ultrastructurally, EPPK presents cytolysis of keratinocytes and abnormal aggregation of tonofilaments in the suprabasal layers of the epidermis. To date, 15 different mutations of the keratin 9 gene (KRT9) have been demonstrated to cause most cases of EPPK.Objectives To identify the KRT9 mutation in a large Chinese family with EPPK.Methods Denaturing high-performance liquid chromatography (DHPLC), DNA sequencing and allele-specific polymerase chain reaction (AS-PCR) were used to screen exon 1 of the KRT9 gene for sequence variations.Results The DHPLC elution profiles of the DNA fragments amplified from the affected samples differed from those obtained from unaffected individuals, indicating that a sequence variation existed within the analysed fragment of KRT9. DNA sequencing revealed a novel insertion–deletion mutation in the exon 1 of KRT9, 497delAinsGGCT, resulting in the change of tyrosine166 to tryptophan and leucine (Y166delinsWL). AS-PCR confirmed the mutation was not a common polymorphism.Conclusions The results suggest the molecular basis of EPPK in this Chinese family and provide further evidence that mutations in the helix initiation motif of keratin 9 underlie Chinese EPPK.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1111/j.0007-0963.2004.05865.x

Permalink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

Electronic Resource

Histochemistry and morphology of porcine mast cells (1993)

Xu, L. R. ; Carr, M. M. ; Bland, A. P. ; [et al.]

Springer

Journal of molecular histology 25 (1993), S. 516-522

add to mindlist on the mindlist

Details

ISSN: 1573-6865

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary Mast cells have been described extensively in rodents and humans but not in pigs, and the objective of this study was to characterize porcine mast cells by histochemistry and electron microscopy. Carnoy's fluid proved to be a good fixative but fixation with neutral buffered formalin blocked staining of most mast cells. Alcian Blue stained more mast cells than did Toluidine Blue (pH 0.5), although Alcian Blue also stained goblet cells. In pigs, unlike rodents, the Alcian Blue method did not distinguish between mast cells in the intestinal mucosa and those in the connective tissue of the intestinal submucosa, tongue and skin. Mast cells were significantly larger in adult pigs than in piglets; in adult pigs and piglets, mast cells in the intestinal mucosa were significantly larger than those in submucosal connective tissue, and they were more varied in shape in piglets and adults. Granules in mast cells in the intestinal mucosa stained less intensely than those in mast cells in connective tissue of tongue, skin and intestinal submucosa. Mast cells in the connective tissue of the tongue, skin and intestinal submucosa fluoresced strongly when stained with berberine sulphate or with a mixture of berberine sulphate and Acridine Orange, but mast cells in the intestinal mucosa did not. All mast cells reacted positively in an enzyme-histochemical method previously used to detect human tryptase but not in a method previously used to detect human chymase. Mast cells in the medulla of thymus stained similarly to mast cells in the intestinal mucosa. Ultrastructural differences between mast cells were not detected.