Exome and transcriptome analysis link calcium channel pathway aberrations to botulinum toxin A resistance in Hailey-Hailey disease

BoNTA treatment in HHD exhibits interindividual variability. Although the type of ATP2C1 mutation has no direct association with patients' response, combined transcriptomic analysis and IHC indicate that upregulation of the ORAI1/SOCE pathway may contribute to treatment resistance and serve as biomarkers to predict patient responsiveness.

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Publication Details

Journal
British Journal of Dermatology
Published
2025-05-03
DOI
https://doi.org/10.1093/bjd/ljaf112
Citations
1
Primary Topic
Genetic and rare skin diseases.
Type
article
Field-Weighted Citation Impact
1.82
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article

Exome and transcriptome analysis link calcium channel pathway aberrations to botulinum toxin A resistance in Hailey-Hailey disease

Hailun Wang, Yiyang Yuan, Han Cao, Li Zhang et al.
1 citations
British Journal of Dermatology
Genetic and rare skin diseases.
1.82
article

Exome and transcriptome analysis link calcium channel pathway aberrations to botulinum toxin A resistance in Hailey-Hailey disease

Hailun Wang, Yiyang Yuan, Han Cao, Li Zhang, Xiaoying Chen, Jie Zheng, Yan Yang, Meng Pan
article en
1 citations

Abstract

BoNTA treatment in HHD exhibits interindividual variability. Although the type of ATP2C1 mutation has no direct association with patients' response, combined transcriptomic analysis and IHC indicate that upregulation of the ORAI1/SOCE pathway may contribute to treatment resistance and serve as biomarkers to predict patient responsiveness.

British Journal of DermatologyVol. 193(1)
Shanghai Jiao Tong University (CN), Renji Hospital (CN), Ruijin Hospital (CN)
Good health and well-being
Openalex Percentile: Top 16%
Genetic and rare skin diseases.
1.82
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