Search results for "ATP2A2"

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The behaviour of Bcl-2, Bax and Bcl-x in Darier's disease

2002

SummaryBackground Darier's disease (DD) is a rare autosomal dominant disorder of keratinization caused by a mutation of the ATP2A2 gene. There is little information on the behaviour of Bcl-2, Bax and Bcl-x in DD. Objectives To investigate the dynamic control and the behaviour of Bax, Bcl-2 and Bcl-x in DD. We asked whether members of the Bcl-2 family might manifest their effects through modulation of intracellular calcium signalling or whether the gene that encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) modulates the Bcl-2 family in the regulation of apoptosis in DD. Methods Immunohistochemical methods were used. Results There was no immunoreactivity for Bcl-2 and Bc…

AdultKeratinocytesMaleGene isoformbcl-X ProteinApoptosisDermatologyBiologymedicine.disease_causeProto-Oncogene ProteinsATP2A2KeratinDarier's diseasemedicineHumansbcl-2-Associated X Proteinchemistry.chemical_classificationMutationEpidermis (botany)Endoplasmic reticulummedicine.diseaseProto-Oncogene Proteins c-bcl-2chemistryApoptosisImmunologyCancer researchFemaleEpidermisDarier DiseaseBritish Journal of Dermatology
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A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease

2016

This study identifies a novel spice site mutation in the ATP2A gene in a family with the Darier disease

gene ATP2A2 splicing site mutation Darier
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