List of works - Alain Sarasin

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa

scientific article

A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines

scientific article

Adenovirus mediated transduction of the human DNA polymerase eta cDNA.

scientific article published on 23 June 2006

An overview of the mechanisms of mutagenesis and carcinogenesis

scientific article

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

scientific article published on 15 October 2014

Both XPA and DNA polymerase eta are necessary for the repair of doxorubicin-induced DNA lesions.

scientific article

CPD-photolyase adenovirus-mediated gene transfer in normal and DNA-repair-deficient human cells

scientific article published on July 2004

CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells.

scientific article published on 21 December 2007

Choice between death by senescence or by cancer?

scientific article

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.

scientific article

Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.

scientific article published in October 2002

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations

scientific article

DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination.

scientific article

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome

scientific article

Development of new EBV-based vectors for stable expression of small interfering RNA to mimick human syndromes: application to NER gene silencing.

scientific article

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

scientific article published on 8 July 2017

ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review

scientific article

ERCC2/XPD gene polymorphisms and cancer risk

scientific article (publication date: November 2002)

Effect of cell confluence on ultraviolet light apoptotic responses in DNA repair deficient cells

scientific article published on 01 November 2003

Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells

scientific article

Effects of camptothecin on double-strand break repair by non-homologous end-joining in DNA mismatch repair-deficient human colorectal cancer cell lines

scientific article

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum

scientific article published on 26 March 2019

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

scientific article

Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome.

scientific article published on 28 December 2013

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk

scientific article published on 23 February 2009

Genetic reversion of inherited skin disorders

scientific article

Genetic variants in DNA repair pathways and risk of upper aerodigestive tract cancers: combined analysis of data from two genome-wide association studies in European populations

scientific article

Global genome repair is required to activate KIN17, a UVC-responsive gene involved in DNA replication

scientific article

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients

scientific article published on 13 December 2019

Human DNA polymerase iota protects cells against oxidative stress

scientific article

Hypothetical role of RNA damage avoidance in preventing human disease.

scientific article

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

scientific article

Influence of irofulven, a transcription-coupled repair-specific antitumor agent, on RNA polymerase activity, stability and dynamics in living mammalian cells

scientific article

Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η

scientific article published on 28 January 2020

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

scientific article published in March 2012

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients

scientific article

Molecular mechanisms of UV-induced mutations as revealed by the study of DNA polymerase eta in human cells

scientific article (publication date: September 2002)

Mutagenic fingerprint of ozone in human cells.

scientific article published on May 2002

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

scientific article

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

scientific article

New insights for understanding the transcription-coupled repair pathway

scientific article published on 27 December 2006

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

scientific article published on 17 January 2013

Ocular manifestations in the inherited DNA repair disorders.

scientific article

Overexpression of DNA repair genes is associated with metastasis: a new hypothesis

scientific article published on 16 January 2008

Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes

scientific article published on 19 December 2003

Photogenotoxicity of mammalian cells: a review of the different assays for in vitro testing

scientific article

Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers

scientific article

Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells.

scientific article published on 8 November 2011

Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells.

scientific article published on February 2017

Progress and prospects of xeroderma pigmentosum therapy.

scientific article published on January 2008

Replication and homologous recombination repair regulate DNA double-strand break formation by the antitumor alkylator ecteinascidin 743.

scholarly article

Replication of simian virus 40 DNA after UV irradiation: evidence of growing fork blockage and single-stranded gaps in daughter strands.

scientific article

Resistance to ultraviolet-induced apoptosis in DNA repair deficient growth arrested human fibroblasts is not related to recovery from RNA transcription blockage

scientific article published on 17 December 2007

Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.

scientific article

Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome

scientific article published on 18 May 2015

Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients

scientific article (publication date: 15 December 2002)

TP53 mutations in human skin cancers.

scientific article

Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™

scientific article

The DNA repair genes XPB and XPD defend cells from retroviral infection

scientific article published on 13 March 2006

The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.

scientific article

The key role of UVA-light induced oxidative stress in human Xeroderma Pigmentosum Variant cells

scientific article published on 13 December 2018

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

scientific article

Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells

scientific journal article

Transcription-coupled repair of 8-oxoguanine in human cells and its deficiency in some DNA repair diseases

scientific article published on November 2003

Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells

scientific article

Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele.

scientific article

Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells.

scientific article

UVB-induced mutations in human key gatekeeper genes governing signalling pathways and consequences for skin tumourigenesis ⬇️

scientific article published on August 1, 2003

Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers

scientific article published in July 2008

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress

scientific article published on 26 July 2019

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

scientific article published on 24 July 2019

Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy

scientific article published in January 2004

List of works by Alain Sarasin

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa

A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines

Adenovirus mediated transduction of the human DNA polymerase eta cDNA.

An overview of the mechanisms of mutagenesis and carcinogenesis

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Both XPA and DNA polymerase eta are necessary for the repair of doxorubicin-induced DNA lesions.

CPD-photolyase adenovirus-mediated gene transfer in normal and DNA-repair-deficient human cells

CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells.

Choice between death by senescence or by cancer?

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.

Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations

DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination.

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome

Development of new EBV-based vectors for stable expression of small interfering RNA to mimick human syndromes: application to NER gene silencing.

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review

ERCC2/XPD gene polymorphisms and cancer risk

Effect of cell confluence on ultraviolet light apoptotic responses in DNA repair deficient cells

Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells

Effects of camptothecin on double-strand break repair by non-homologous end-joining in DNA mismatch repair-deficient human colorectal cancer cell lines

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome.

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk

Genetic reversion of inherited skin disorders

Genetic variants in DNA repair pathways and risk of upper aerodigestive tract cancers: combined analysis of data from two genome-wide association studies in European populations

Global genome repair is required to activate KIN17, a UVC-responsive gene involved in DNA replication

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients

Human DNA polymerase iota protects cells against oxidative stress

Hypothetical role of RNA damage avoidance in preventing human disease.

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

Influence of irofulven, a transcription-coupled repair-specific antitumor agent, on RNA polymerase activity, stability and dynamics in living mammalian cells

Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients

Molecular mechanisms of UV-induced mutations as revealed by the study of DNA polymerase eta in human cells

Mutagenic fingerprint of ozone in human cells.

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

New insights for understanding the transcription-coupled repair pathway

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

Ocular manifestations in the inherited DNA repair disorders.

Overexpression of DNA repair genes is associated with metastasis: a new hypothesis

Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes

Photogenotoxicity of mammalian cells: a review of the different assays for in vitro testing

Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers

Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells.

Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells.

Progress and prospects of xeroderma pigmentosum therapy.

Replication and homologous recombination repair regulate DNA double-strand break formation by the antitumor alkylator ecteinascidin 743.

Replication of simian virus 40 DNA after UV irradiation: evidence of growing fork blockage and single-stranded gaps in daughter strands.

Resistance to ultraviolet-induced apoptosis in DNA repair deficient growth arrested human fibroblasts is not related to recovery from RNA transcription blockage

Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.

Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome

Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients

TP53 mutations in human skin cancers.

Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™

The DNA repair genes XPB and XPD defend cells from retroviral infection

The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.

The key role of UVA-light induced oxidative stress in human Xeroderma Pigmentosum Variant cells

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells

Transcription-coupled repair of 8-oxoguanine in human cells and its deficiency in some DNA repair diseases

Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells

Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele.

Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells.

UVB-induced mutations in human key gatekeeper genes governing signalling pathways and consequences for skin tumourigenesis ⬇️

Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy