Heather Fawcett

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU) (2009)

Limsirichaikul, Siripan, Niimi, Atsuko, Fawcett, Heather, Lehmann, Alan, Yamashita, Shunichi, Ogi, Tomoo

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition. XP is in most cases associated with deficient...

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....

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...

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...

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)

Limsirichaikul, Siripan, Niimi, Atsuko, Fawcett, Heather, Lehmann, Alan, Yamashita, Shunichi, Ogi, Tomoo

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition. XP is in most cases associated with deficient...