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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Nature genetics, 2004-07, Vol.36 (7), p.714-719

2004

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Heterogeneity and overlaps in nucleotide excision repair disorders

Clinical genetics, 2020-01, Vol.97 (1), p.12-24

2020

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Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Molecular and Cellular Biology, 2005-09, Vol.25 (18), p.8368-8378

2005

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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Journal of medical genetics, 2018-05, Vol.55 (5), p.329-343

2018

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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Human mutation, 2022-12, Vol.43 (12), p.2222-2233

2022

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Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features

Journal of investigative dermatology, 2005-07, Vol.125 (1), p.86-92

2005

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human molecular genetics, 2021-08, Vol.30 (18), p.1711-1720

2021

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

American journal of human genetics, 2019-08, Vol.105 (2), p.434-440

2019

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Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

Clinical genetics, 2021-06, Vol.99 (6), p.842-848

2021

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

American journal of human genetics, 2016-04, Vol.98 (4), p.627-642

2016

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Journal of medical genetics, 2015-04, Vol.52 (4), p.269-274

2015

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Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

Experimental dermatology, 2015-04, Vol.24 (4), p.314-316

2015

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From laboratory tests to functional characterisation of Cockayne syndrome

Mechanisms of ageing and development, 2013-05, Vol.134 (5-6), p.171-179

2013

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XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression

Human molecular genetics, 2013-03, Vol.22 (6), p.1061-1073

2013

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Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

Human molecular genetics, 2002-11, Vol.11 (23), p.2919-2928

2002

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Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

Human mutation, 2009-03, Vol.30 (3), p.438-445

2009

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True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product

Human molecular genetics, 2003-07, Vol.12 (13), p.1507-1522

2003

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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

American journal of human genetics, 1998-10, Vol.63 (4), p.1036-1048

1998

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Identical mutations in the CSB gene associated with either cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

Human molecular genetics, 2000-05, Vol.9 (8), p.1171-1175

2000

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Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH

Nucleic acids research, 2001-04, Vol.29 (7), p.1574-1581

2001

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Genetic analysis of twenty-two patients with Cockayne syndrome

Human genetics, 1996-04, Vol.97 (4), p.418-423

1996

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Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy

Carcinogenesis (New York), 1993-06, Vol.14 (6), p.1101-1105

1993

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DNA Repair and Ultraviolet Mutagenesis in Cells From a New Patient With Xeroderma Pigmentosum Group G and Cockayne Syndrome Resemble Xeroderma Pigmentosum Cells

Journal of investigative dermatology, 1996-10, Vol.107 (4), p.647-653

1996

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A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity

Mutation research, 1996-08, Vol.363 (3), p.209-221

1996

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Prompt and Long-Lived Anti-Kasha Emission from Organic Dyes

Molecules (Basel, Switzerland), 2021-11, Vol.26 (22), p.6999

2021

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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Heterogeneity and overlaps in nucleotide excision repair disorders

Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

From laboratory tests to functional characterisation of Cockayne syndrome

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product

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

Identical mutations in the CSB gene associated with either cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH

Genetic analysis of twenty-two patients with Cockayne syndrome

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy

DNA Repair and Ultraviolet Mutagenesis in Cells From a New Patient With Xeroderma Pigmentosum Group G and Cockayne Syndrome Resemble Xeroderma Pigmentosum Cells

A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity

Prompt and Long-Lived Anti-Kasha Emission from Organic Dyes

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