Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

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• Finished

  Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

  Barton, G. (Investigator), Campbell, P. (Investigator), Hickerson, R. (Investigator), Leigh, I. (Investigator), McLean, I. (Investigator) & Wyatt, P. (Investigator)

  1/08/12 → 30/04/19

  Project: Research

  • Atopic Dermatitis 100%
  • Palmoplantar Keratoderma 38%
  • Gain-of-function mutation 33%
  • Filaggrin 32%
  • Epidermis 29%

• Human and Mouse Genetics Studies of Filaggrin-Related Proteins in Eczema and Allergy (Joint with Trinity College Dublin)

  Barton, G. (Investigator) & McLean, I. (Investigator)

  1/10/10 → 28/02/14

  Project: Research

  • Atopic Dermatitis 100%
  • Filaggrin 43%
  • Loss of Function Mutation 36%
  • Gain-of-function mutation 34%
  • Mutation in the Filaggrin Gene 27%

• Aref#d: 20997. Factors Modulating the Effects of Filaggrin Haploinsufficiency in Ichthyosis Vulgaris and Atopic Eczema (Intermediate Research Fellowship - Dr Sara Brown)

  Brown, S. (Investigator), Brown, S. (Investigator), Leigh, I. (Investigator) & McLean, I. (Investigator)

  1/07/09 → 30/06/15

  Project: Research

  • Filaggrin Gene 100%
  • Filaggrin 100%
  • Eczema 100%
  • Atopic Eczema 75%
  • Dermatological Research 50%