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Xeroderma pigmentosum

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.70-70

2011

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

Proceedings of the National Academy of Sciences - PNAS, 2016-03, Vol.113 (9), p.E1236-E1245

2016

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Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

American journal of human genetics, 2013-05, Vol.92 (5), p.807-819

2013

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Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack

PLoS genetics, 2013-07, Vol.9 (7), p.e1003611

2013

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Bmi-1 Reduction Plays a Key Role in Physiological and Premature Aging of Primary Human Keratinocytes

Journal of investigative dermatology, 2010-04, Vol.130 (4), p.1048-1062

2010

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An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress

Aging cell, 2012-06, Vol.11 (3), p.520-529

2012

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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

DNA repair, 2008-05, Vol.7 (5), p.744-750

2008

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UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (15), p.6209-6214

2009

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New functions of XPC in the protection of human skin cells from oxidative damage

The EMBO journal, 2006-09, Vol.25 (18), p.4305-4315

2006

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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

Proceedings of the National Academy of Sciences - PNAS, 2015-02, Vol.112 (5), p.1499-1504

2015

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DNA Nucleotide Excision Repair-Dependent Signaling to Checkpoint Activation

Proceedings of the National Academy of Sciences - PNAS, 2006-11, Vol.103 (46), p.17325-17330

2006

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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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CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination

Cell cycle (Georgetown, Tex.), 2011-11, Vol.10 (21), p.3719-3730

2011

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Basal Transcription Defect Discriminates between Xeroderma Pigmentosum and Trichothiodystrophy in XPD Patients

Molecular cell, 2003-06, Vol.11 (6), p.1635-1646

2003

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In Vivo Destabilization and Functional Defects of the Xeroderma Pigmentosum C Protein Caused by a Pathogenic Missense Mutation

Molecular and Cellular Biology, 2007-10, Vol.27 (19), p.6606-6614

2007

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Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes

Cancer research (Chicago, Ill.), 2005-01, Vol.65 (2), p.432-438

2005

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Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Proceedings of the National Academy of Sciences - PNAS, 1997-08, Vol.94 (16), p.8658-8663

1997

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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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Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence

Journal of investigative dermatology, 2019-01, Vol.139 (1), p.38-50

2019

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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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Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation

Oncogene, 2000-05, Vol.19 (22), p.2714-2720

2000

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Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation

Nucleic acids research, 2021-11, Vol.49 (19), p.10911-10930

2021

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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Nature genetics, 2012-05, Vol.44 (5), p.586-592

2012

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Rac3-induced neuritogenesis requires binding to Neurabin I

Molecular biology of the cell, 2006-05, Vol.17 (5), p.2391-2400

2006

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Xeroderma pigmentosum

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

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack

Bmi-1 Reduction Plays a Key Role in Physiological and Premature Aging of Primary Human Keratinocytes

An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

New functions of XPC in the protection of human skin cells from oxidative damage

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

DNA Nucleotide Excision Repair-Dependent Signaling to Checkpoint Activation

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

CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination

Basal Transcription Defect Discriminates between Xeroderma Pigmentosum and Trichothiodystrophy in XPD Patients

In Vivo Destabilization and Functional Defects of the Xeroderma Pigmentosum C Protein Caused by a Pathogenic Missense Mutation

Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes

Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

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

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence

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

Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Rac3-induced neuritogenesis requires binding to Neurabin I

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