INCONTINENTIA PIGMENTI TYPE 2 (IP2): ISOLATION AND CHARACTERISATION OF THE GENE THROUGH TRANSCRIPTIONAL AND SEQUENCE ANALYSIS

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Human homologue of the murine Bare patches/Striated gene is not mutated in Incontinentia Pigmenti type 2

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

• CYTOGENETICS AND CELL GENETICS

  Characterization of the murine orthologue of a novel human subtelomeric multigene family

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

• HUMAN MOLECULAR GENETICS

  A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations

• HUMAN MOLECULAR GENETICS

  Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

• JOURNAL OF MEDICAL GENETICS

  Mutation analysis of the DKC1 gene in incontinentia pigmenti

• NATURE

  Genomic rearrangement in NEMO impairs NF-KAPPAB activation and is a cause of incontinentia pigmenti