hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

Research output

Research output per year 2019 2019 2019

• 4 Citations
• 2 Article (journal)

Research output per year

Research output per year

Search results

• 2019

  Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents

  Plank, R., Yealland, G., Miceli, E., Cunha, D. L., Graff, P., Thomforde, S., Gruber, R., Moosbrugger-Martinz, V., Eckl, K., Calderón, M., Hennies, H. C. & Hedtrich, S., 1 May 2019, In: Journal of Investigative Dermatology. 139, 5, p. 1191-1195 5 p.

  Research output: Contribution to journal › Article (journal) › peer-review

  Open Access

  File

  • Dermatosis 100%
  • Ichthyosis 100%
  • Substitution Therapy 100%
  • Protein Glutamine Gamma Glutamyltransferase 100%
  • Autosomal Recessive Inheritance 100%
  28 Citations (Scopus)

  153 Downloads (Pure)

• Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

  Cunha, D. L., Alakloby, O. M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nurnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A. S., Alnutaifi, K. A. & Hennies, H. C., 1 Mar 2019, In: Molecular genetics & genomic medicine. 7, 3, p. e539

  Research output: Contribution to journal › Article (journal) › peer-review

  Open Access

  File

  • Genotype Phenotype Correlation 100%
  • Autosomal Recessive Inheritance 100%
  • ABCA12 50%
  • Missense 33%
  • Genetics 16%
  6 Citations (Scopus)

  123 Downloads (Pure)