Genetic analysis of twenty-two patients with Cockayne syndrome (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Genetic analysis of twenty-two patients with Cockayne syndrome (Articolo in rivista) (literal)

Anno

• 1996-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1007/BF02267059 (literal)

Alternative label

• Stefanini M, Fawcett H, Botta E, Nardo T and Lehmann AR (1996)
  Genetic analysis of twenty-two patients with Cockayne syndrome
  in Human genetics; Springer Verlag, New York NY (Stati Uniti d'America)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Stefanini M, Fawcett H, Botta E, Nardo T and Lehmann AR (literal)

Pagina inizio

• 418 (literal)

Pagina fine

• 423 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 97 (literal)

Rivista

• Human genetics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 4 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Stefanini, Botta, Nardo: IGBE CNR Pavia Fawcett, Lehmann: MRC University of Sussex UK (literal)

Titolo

• Genetic analysis of twenty-two patients with Cockayne syndrome (literal)

Abstract

• Cockayne syndrome (CS) is an autosomal recessive disorder with dwarfism, mental retardation, sun sensitivity and a variety of other features. Cultured CS cells are hypersensitive to ultraviolet (UV) light, and following UV irradiation, CS cells are unable to restore RNA synthesis rates to normal levels. This has been attributed to a specific deficiency in CS cells in the ability to repair damage in actively transcribed regions of DNA at the rapid rate seen in normal cells. We have used the failure of recovery of RNA synthesis, following UV irradiation of C cells, in a complementation test. Cells of different CS donors are fused. Restoration of normal RNA synthesis rates in UV-irradiated heterodikaryons indicates that the donors are in different complementation groups, whereas a failure to effect this recovery implies that they are in the same group. In an analysis of cell strains from 22 CS donors from several countries and different racial groups. we have assigned five cell strains to the CS-A group and the remaining 17 to CS-B, No obvious racial, clinical or cellular distinctions could be made between individuals in the two groups. Our analysis will assist the identification of mutations in the recently cloned CSA and CSB genes and the study of structure-function relationships. (literal)

Editore

• Springer Verlag (Editore)

Prodotto di

• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• MIRIA STEFANINI (Unità di personale interno)
• TIZIANA NARDO (Persona)
• ELENA BOTTA (Persona)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• TIZIANA NARDO (Persona)
• ELENA BOTTA (Persona)
• MIRIA STEFANINI (Unità di personale interno)

Editore di

• Springer Verlag (Editore)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human genetics (Rivista)