FRANCE
MAGEC centre, Dermatology department ; INSERM U393
department of Genetics
Necker Enfants Malades Hospital,
Assistance Publique,
149 rue de
Sèvres
Paris
France
75015
Prof. Christine Bodemer
Dr. Smail Hadj
Rabia
Hadj-Rabia@necker.fr
Project title: Clinical,
genetic and cellular characterisation of the spectrum of
genodermatoses including incontinentia pigmenti and
hypohidrotic ectodermal dysplasias . NF-kB pathway and
epidermal
homeostasis
ITALY
CEINGE Biotecnologie Avanzate SCarl (Center for Genetic
Engineering)
via Comunale Margherita 482
Naples
Italy
80145
Dr. Caterina Missero
missero@ceinge.unina.it
Project title: Pathogenetic mechanisms underlying
the AEC syndrome: generation of mouse models and
characterization of target genes
Department of Structural and Functional Biology
Molecular Genetics
University of Naples "Federico II"
via Cinzia, 26
Naples
Italy
80126
Prof. Girolama La Mantia
lamantia@unina.it
Project title: a molecular and functional study on
p63 mutant proteinsoccurring in EEC, AEC and other human
hereditary ectodermal syndromes
Department of Structural and Functional Biology
University of Naples "Federico II"
via Cinzia, 26
Naples
Italy
80126
Prof. Maria Furia
Dr. Mimmo Turano
mimmo.turano@unina.it
Project title: Expression and biological role of the
human DKC1 gene and its orthologue in D. melanogaster
Human Molecular genetics
Institute of Genetics and
Biophysics
Via P.Castellino
111
Naples
Italy
80131
Dr. Catello Polito
Dr.
Matilde Valeria Ursini
ursini@igb.cnr.it
Project title: Unravelling
the molecular mechanisms of impaired NEMO function in IP
pathogenesis
Telethon Institute of Genetics and Medicine
Via Pietro Castellino 111
Naples
Italy
80131
Prof. Andrea Ballabio
Dr. Brunella Franco
franco@tigem.it
Project title: the molecular basis of
Oral-facial-digital type 1 syndrome
UNITED KINGDOM
Centre for Cutaneous Research
Institute of Cell and
Molecular Science, Queen Mary, University of London
4
Newark Street,
Whitechapel
London
UK
E1 4AT
Prof. David Kelsell
d.p.kelsell@qmul.ac.uk
Research activities on: Biology of Connexins
Genetic Skin Disease Group
St John’s Institute of
Dermatology - St Thomas’ Hospital
Division of Genetics and
Molecular
Medicine
Lambeth Palace
Road
London SE1 7EH
England
Prof. John
McGrath
john.mcgrath@kcl.ac.uk
Research activities on: Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT
syndrome)
Research activities
on: Ankyloblepharon-ectodermal defects-cleft
lip and palate syndrome (AEC
syndrome)
Research activities
on: Cleft lip/palate-ectodermal dysplasia
syndrome
Research activities
on: Ectodermal dysplasia, skin fragility
syndrome
Research activities
on: Ectrodactyly-ectodermal dysplasia-cleft
lip/palate syndrome (EEC
syndrome)
Research activities
on: Naegeli
syndrome
Research activities
on: Rapp-Hodgkin
syndrome |