TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome

Acta Derm Venereol. 2015 May;95(5):620-1. doi: 10.2340/00015555-1948.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Follow-Up Studies
  • Gene Expression Regulation*
  • Hair Follicle / physiopathology
  • Haploinsufficiency / genetics
  • Humans
  • Japan
  • Langer-Giedion Syndrome / diagnosis*
  • Langer-Giedion Syndrome / genetics
  • RNA, Messenger / genetics
  • Repressor Proteins
  • SOX9 Transcription Factor / genetics*
  • STAT3 Transcription Factor / genetics*
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • RNA, Messenger
  • Repressor Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • TRPS1 protein, human
  • Transcription Factors