A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

Jennifer A. Easton, Ahmad K. Albuloushi, Miriam A. F. Kamps, Gladys H. M. R. Brouns, Jos L. Broers, Barry J. Coull, Vincent Oji, Michel van Geel, Maurice A. M. van Steensel, Patricia E. Martin*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1106-1113
Number of pages8
JournalExperimental Dermatology
Volume28
Issue number10
DOIs
Publication statusPublished - Oct 2019

Keywords

  • cell death
  • connexin
  • EKV-P
  • heteromeric connexins
  • CONNEXIN-MIMETIC PEPTIDES
  • GAP-JUNCTION
  • SKIN-DISEASE
  • ERYTHROKERATODERMIA-VARIABILIS
  • PALMOPLANTAR KERATODERMA
  • EPIDERMAL-KERATINOCYTES
  • EXPRESSION
  • CX26
  • HEMICHANNELS
  • PERMEABILITY

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