Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA

1980 • 2,696 citations

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1968 • 1,739 citations

DNA Repair Helicase: a Component of BTF2 (TFIIH) Basic Transcription Factor

1993 • 795 citations

Cockayne syndrome: Review of 140 cases

1992 • 786 citations

Xeroderma Pigmentosum

1974 • 755 citations

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

1992 • 707 citations

Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.

1975 • 617 citations

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

1990 • 552 citations

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

1990 • 440 citations

Molecular cloning of a human DNA repair gene

1984 • 307 citations

Nucleotide excision repair II: from yeast to mammals

1993 • 304 citations

Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6.

1991 • 266 citations

Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C

1992 • 242 citations

The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA

1990 • 231 citations

Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2

1993 • 203 citations

Three complementation groups in Cockayne syndrome

1982 • 183 citations

Gene specific DNA repair

1991 • 181 citations

Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.

1992 • 178 citations

SSL2, a suppressor of a stem-loop mutation in the HIS4 leader encodes the yeast homolog of human ERCC-3

1992 • 151 citations

A further assessment of factors influencing measurements of thioguanine-resistant mutant frequency in circulating T-lymphocytes

1988 • 142 citations

A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene

1992 • 139 citations

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.

1989 • 137 citations

Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5

1993 • 122 citations

RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.

1992 • 122 citations

Heterogeneity of DNA repair at the gene level

1991 • 117 citations

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.

1993 • 105 citations

NEUROLOGICAL DISEASE IN XERODERMA PIGMENTOSUM: DOCUMENTATION OF A LATE ONSET TYPE OF THE JUVENILE ONSET FORM

1991 • 101 citations

Xeroderma pigmentosum complementation group H falls into complementation group D

1991 • 80 citations

The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I

1989 • 74 citations

Impaired immune function in patients with xeroderma pigmentosum.

1985 • 66 citations

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

1992 • 56 citations

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repair

1993 • 52 citations

Genetic complementation between UV-sensitive CHO mutants and xeroderma pigmentosum fibroblasts

1985 • 51 citations

Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients

1992 • 41 citations

Transient correction of excision repair defects in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extracts

1986 • 38 citations

Workshop on DNA repair

1992 • 33 citations

Sunlight-induced cancer: some new aspects and implications of the xeroderma pigmentosum model

1990 • 32 citations

A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C

1992 • 24 citations

Mutagenic DNA repair in Escherichia coli XXI. A stable SOS-inducing signal persisting after excision repair of ultraviolet damage

1992 • 14 citations