Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the consequence of a variation in patients. Mutations in the retinitis pigmentosa 2 (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of retinal degeneration. The purpose of this study was to assess the functional consequence of disease-associ...

PURPOSE To investigate the etiology in a family with autosomal-dominant congenital simple microphthalmia of Chinese origin. METHODS A whole-genome scan was performed by using 382 microsatellite DNA markers after the exclusion of reported candidates linked to microphthalmia. Additional fluorescent markers were genotyped for fine mapping. To find out the novel predisposing gene, 14 candidate ge...

In the mouse Pax6 function is critical in a dose-dependent manner for proper eye development. Pax6 contiguous gene deletions were shown to be homozygous lethal at an early embryonic stage. Heterozygotes express belly spotting and extreme microphthalmia. The eye phenotype is more severe than in heterozygous Pax6 intragenic null mutants, raising the possibility that deletions are functionally dif...

We have investigated the expression and localization of histidine decarboxylase (HDC, a key enzyme for histamine biosynthesis) in human skin by immunohistochemical analysis. HDC-immunoreactive cytokeratin 14-non immunoreactive cells were observed around basal layer epidermis healthy subjects patients with atopic dermatitis (AD). These did not express mast cell-tryptase but expressed tyrosinase ...