Condition: Xeroderma Pigmentosum, Complementation Group D


rs121913016 in ERCC2 gene and Xeroderma Pigmentosum, Complementation Group D PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 7585650 1995 Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

PMID 15494306 2004 Selective regulation of vitamin D receptor-responsive genes by TFIIH.

PMID 7825573 1995 Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

PMID 7849702 1994 In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.

PMID 9101292 1997 Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

PMID 11709541 2001 Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

PMID 7849702 1994 Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

PMID 11710928 2001 Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.

PMID 18637129 2009 Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

PMID 12820975 2003 Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

PMID 24252196 2013 The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 9238033 1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PMID 23800062 2013 Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

PMID 22826098 2012 A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

PMID 27504877 2016 Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

PMID 20633800 2010 Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

PMID 26884178 2016 Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.