Anhidrotic ectodermal dysplasia and incontinentia pigmenti: Pieces of the same puzzle;Dysplasies ectodermiques anhidrotiques et incontinentia pigmenti. Les pièces d'un même puzzle

Annales de Dermatologie et de Venereologie

Volumn 129, Issue 3, 2002, Pages 277-280

  Hadj Rabia, S ^a   Smahi, A ^a   Bodemer, C ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 ANTIGEN; I KAPPA B; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; INTERLEUKIN 18; TUMOR NECROSIS FACTOR RECEPTOR 1; VASCULOTROPIN RECEPTOR 3;

ANHIDROTIC ECTODERMAL DYSPLASIA; CHROMOSOME 2Q; EDITORIAL; GENE LOCATION; HUMAN; INCONTINENTIA PIGMENTI; SYNDROME DELINEATION; X CHROMOSOME;

ECTODERMAL DYSPLASIA; HUMANS; INCONTINENTIA PIGMENTI;

EID: 0036216348     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (17)

1. Ectodermal dysplasias: Not only skin deep
2. Clinical spectrum of anhidrotic ectodermal dysptasia
3. X linked anhidrotic ectodermal dysplasia is caused by mutation in a novel transmembrane protein
4. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
5. Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2qll-ql3
6. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
7. The ectodermal dysplasia receptor activates the nuclear factor-kappa b, jnk, and cell death pathways and binds to ectodysplasin a
8. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
9. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
10. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
11. The IKK complex: An integrator of all signals that activate NF-kappaB?
12. It's got you covered: NF-kappaB in the epidermis
13. IKK1-deficient mice exhibit abnormal development of skin and skeleton
14. Limb and skin abnormalities in mice lacking IKKalpha
15. NEMO/IKK gamma-deficient mice model incontinentia pigmenti
16. Alterations in NF-kappaB function in transgenic epithelial tissue demonstrate a growth inhibitory role for NF-kappaB
17. Tumor necrosis factor alpha-mediated inhibition of melanogenesis is dependent on nuclear factor kappa B activation