Notice bibliographique
- Notice
Type(s) de contenu et mode(s) de consultation : Texte noté : électronique
Auteur(s) : Back, Nathan
Titre(s) : Molecular Mechanisms of Xeroderma Pigmentosum [Texte électronique] / edited by Nathan Back, Irun R. Cohen, Abel Lajtha, John D. Lambris, Rodolfo Paoletti, Shamim I. Ahmad, Fumio Hanaoka
Publication : New York, NY : Springer New York : Springer e-books, 2009
Description matérielle : 1 online resource
Collection : Advances in Experimental Medicine and Biology ; 637
Note(s) : Xeroderma pigmentosum (XP), meaning parchment skin and pigmentary dist- bance, is
a rare and mostly autosomal recessive genetic disorder that was originally named by
two dermatologists, the Austrian Ferdinand Ritter von Hebra and his H- garian son
in law Moritz Kaposi in 1874i and 1883. 2 The earliest published record (PubMed) available
on the internet is a publication in 1949 by Ulicna Zapletalova under the title, "Contribution
to the pathogenesis of xeroderma pigmentosum". ^ It was in the late 1960s when James
Cleaver (contributor of Chapter 1 of this book), at the University of California,
San Francisco, while working on nucleotide excision repair (NER), read an article
in a local newspaper about XP and soon after obtained a skin biopsy from a patient
suffering from XP that showed that cells from it were deficient in NER. Thus, his
studies led to the discovery that indeed this genetic defect was due to mutations
in DNA repair genes that imbalance the NER pathway. ^. s The discovery paved the way
for further exploration of the link between DNA damage, mutagenesis, neoplastic transformation
and DNA repair diseases. Since then, 4,088 papers, incl- ing excellent reviews, on
XP are listed on the internet (PubMed data, February 2008), and an XP Society has
been established in the USA (http://www. xps. org) and an XP Support Group in the
United Kingdom (www. xpsupportgroup. org. uk)
Autre(s) auteur(s) : Cohen, Irun R.. Fonction indéterminée
Paoletti, Rodolfo (1931-....). Fonction indéterminée
Lambris, John D.. Fonction indéterminée
Hanaoka, Fumio (1946-....). Fonction indéterminée
Ahmad, Mohammad Shamim Iqbal. Fonction indéterminée
Lajtha, Abel (1922-....). Fonction indéterminée
Sujet(s) : Médecine
Biologie moléculaire
Indice(s) Dewey :
611.018 16 (23e éd.) = Génétique physiologique (cytologie humaine)
Identifiants, prix et caractéristiques : ISBN 9780387095998
Identifiant de la notice : ark:/12148/cb446411410
Notice n° :
FRBNF44641141
(notice reprise d'un réservoir extérieur)
