Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Prediction of Protein Secondary Structure at Better than 70% Accuracy

1993 • 2,958 citations

Combining evolutionary information and neural networks to predict protein secondary structure

1994 • 1,471 citations

PHD-an automatic mail server for protein secondary structure prediction

1994 • 561 citations

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

1994 • 473 citations

ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer

1998 • 403 citations

The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.

1994 • 381 citations

The Metabolic Basis of Inherited Disease.

1961 • 371 citations

Human xeroderma pigmentosum group D gene encodes a DMA helicase

1993 • 310 citations

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.

1990 • 274 citations

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD ( ERCC 2) repair/transcription gene

1997 • 257 citations

Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.

1988 • 193 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

TFIIH: a key component in multiple DNA transactions

1996 • 160 citations

Three Unusual Repair Deficiencies Associated with Transcription Factor BTF2(TFIIH): Evidence for the Existence of a Transcription Syndrome

1994 • 144 citations

Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

1990 • 143 citations

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity

1986 • 135 citations

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

1994 • 134 citations

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

1994 • 129 citations

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy

1993 • 117 citations

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.

1995 • 114 citations

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

1993 • 114 citations

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

1996 • 112 citations

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

1995 • 110 citations

Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.

1998 • 108 citations

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.

1988 • 104 citations

Xeroderma pigmentosum complementation group H falls into complementation group D

1991 • 80 citations

Cloning and characterisation of theS.pombe rad15gene, a homologue to theS.cerevisiae RAD3and humanERCC2genes

1992 • 78 citations

DNA repair investigations in nine Italian patients affected by trichothiodystrophy

1992 • 73 citations

Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene

1996 • 62 citations

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene

1994 • 42 citations

DNA repair characteristics and mutations in theERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

1997 • 39 citations

Syndromes associate with trichotodystrophy

1994 • 39 citations

Mutations in theXPD gene leading to xeroderma pigmentosum symptoms

1997 • 32 citations

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

1992 • 24 citations

Central nervous system dysmyelination in PIBI(D)S syndrome: a further case

1996 • 23 citations

Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay

1997 • 20 citations

Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.

1990 • 16 citations

Characterization of the Xiphophorus fish (Teleostei: Poeciliidae) ERCC2/XPD locus

1995 • 14 citations

Cloning and Molecular Characterization of the Chinese Hamster ERCC2 Nucleotide Excision Repair Gene

1994 • 12 citations

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D

1994 • 7 citations