Bernard C. Broughton

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene (2001)

Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, Elaine M., Arlett, Colin F., Nardo, Tiziana, ...

The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal transcription and nucleotide excision repair....

Mutations in the general transcription factor TFIIH result in {beta}-thalassaemia in individuals with trichothiodystrophy (2001)

Viprakasit, Vip, Gibbons, Richard J., Broughton, Bernard C., Tolmie, John L., Brown, Donald, Lunt, Peter, ...

The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with...

Domain structure, localization, and function of DNA polymerase {eta}, defective in xeroderma pigmentosum variant cells (2001)

Kannouche, Patricia, Broughton, Bernard C., Volker, Marcel, Hanaoka, Fumio, Mullenders, Leon H.F., Lehmann, Alan R.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene

Taylor, Elaine M., Broughton, Bernard C., Botta, Elena, Stefanini, Miria, Sarasin, Alain, Jaspers, Nicolaas G. J., ...

The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three...

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

Broughton, Bernard C., Cordonnier, Agnes, Kleijer, Wim J., Jaspers, Nicolaas G. J., Fawcett, Heather, Raams, Anja, ...

Xeroderma pigmentosum variant (XP-V) cells are deficient in their ability to synthesize intact daughter DNA strands after UV irradiation. This deficiency results from mutations in the gene encoding...

Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells

Kannouche, Patricia, Broughton, Bernard C., Volker, Marcel, Hanaoka, Fumio, Mullenders, Leon H.F., Lehmann, Alan R.

DNA polymerase η carries out translesion synthesis past UV photoproducts and is deficient in xeroderma pigmentosum (XP) variants. We report that polη is mostly localized uniformly in the nucleus...

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene

Taylor, Elaine M., Broughton, Bernard C., Botta, Elena, Stefanini, Miria, Sarasin, Alain, Jaspers, Nicolaas G. J., ...

The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three...

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

Broughton, Bernard C., Cordonnier, Agnes, Kleijer, Wim J., Jaspers, Nicolaas G. J., Fawcett, Heather, Raams, Anja, ...

Xeroderma pigmentosum variant (XP-V) cells are deficient in their ability to synthesize intact daughter DNA strands after UV irradiation. This deficiency results from mutations in the gene encoding...

Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells

Kannouche, Patricia, Broughton, Bernard C., Volker, Marcel, Hanaoka, Fumio, Mullenders, Leon H.F., Lehmann, Alan R.

DNA polymerase η carries out translesion synthesis past UV photoproducts and is deficient in xeroderma pigmentosum (XP) variants. We report that polη is mostly localized uniformly in the nucleus...