Heather Fawcett
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View article: XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit Open
View article: A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum
A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum Open
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective nucleotide excision repair (NER), leading to extreme sensitivity to sunlight-induced skin pigmentation changes and increased skin cancer risk. Pat…
View article: Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system Open
View article: APE1-dependent base excision repair of DNA photodimers in human cells
APE1-dependent base excision repair of DNA photodimers in human cells Open
UV irradiation induces "bulky" DNA photodimers such as (6-4)-photoproducts and cyclobutane pyrimidine dimers that are removed by nucleotide excision repair, a complex process defective in the sunlight-sensitive and cancer-prone disease xer…
View article: A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration
A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration Open
Xeroderma pigmentosum (XP) is characterized by defective repair of ultraviolet radiation(UVR)-induced DNA damage. Patients have UVR hypersensitivity and increased skin cancer risk. Effective photoprotection has reduced childhood cancer-rel…
View article: Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome Open
Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. Abou…
View article: Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect Open
Significance Xeroderma pigmentosum (XP) is a genetic disorder caused by defective repair of DNA damage. Affected patients are mutated in one of eight genes and develop skin pigmentation changes, skin cancers, ocular surface abnormalities, …
View article: A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan Open