E. Botta

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

L. Mullenders, A. Lehmann, M. Volker, 2005 .

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

L. Harries, L. Mullenders, A. Lehmann, 2005, Molecular and Cellular Biology.

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

R. Aebersold, J. Ranish, J. Hoeijmakers, 2004, Nature Genetics.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

A. Lehmann, C. Arlett, A. Sarasin, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Heterogeneity and overlaps in nucleotide excision repair disorders

D. Orioli, E. Botta, D. Ferri, 2020, Clinical genetics.

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

M. Mura, D. Orioli, J. Egly, 2013, Human molecular genetics.

Trichothiodystrophy: from basic mechanisms to clinical implications.

D. Orioli, M. Stefanini, E. Botta, 2010, DNA repair.

Genetic analysis of twenty-two patients with Cockayne syndrome

A. Lehmann, M. Stefanini, T. Nardò, 1996, Human Genetics.

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

A. Lehmann, J. Egly, A. M. Pedrini, 2002, Human molecular genetics.

#StayHomeStayFit: UNIMI’s approach to online healthy lifestyle promotion during the COVID-19 pandemic

D. Lucini, S. Castaldi, E. Biganzoli, 2020, Acta bio-medica : Atenei Parmensis.

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

M. Digilio, B. Dallapiccola, S. Rossi, 2021, Clinical genetics.

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

L. Thompson, A. Natarajan, D. Mitchell, 1996, Mutation research.

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

L. Thompson, A. Natarajan, D. Mitchell, 1996 .

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.

I. Rapin, J. Hoeijmakers, W. Vermeulen, 1996, The Journal of investigative dermatology.

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.

J. Hoeijmakers, J. Cole, W. Vermeulen, 1995, American journal of human genetics.

Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

S. Bione, G. Biamonti, D. Orioli, 2021, Proceedings of the National Academy of Sciences.

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

A. Lehmann, P. Giunti, H. Fassihi, 2016, Proceedings of the National Academy of Sciences.

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

S. Giliani, A. Lehmann, A. Sarasin, 1993, Carcinogenesis.

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

M. Kubota, A. Lehmann, D. Orioli, 2018, Journal of Medical Genetics.

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

A. Sarasin, A. Lehmann, J. Offman, 2007, Human mutation.

Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.

H. Nakagawa, A. Lehmann, M. Momoi, 2005, The Journal of investigative dermatology.

From laboratory tests to functional characterisation of Cockayne syndrome

Bruno Vaz, D. Orioli, M. Stefanini, 2013, Mechanisms of Ageing and Development.

Novel Chinese hamster ultraviolet-sensitive mutants for excision repair form complementation groups 9 and 10.

D. Mitchell, A. Collins, R. Riboni, 1991, Cancer research.

Identification of the eleventh complementation group of UV-sensitive excision repair-defective rodent mutants.

A. Yasui, R. Riboni, M. Stefanini, 1992, Cancer research.

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

C. Pantaleoni, D. Orioli, F. Benedicenti, 2022, Human mutation.

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

A. M. Pedrini, M. Stefanini, E. Botta, 2001, Nucleic acids research.

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.

M. Stefanini, Dawn C. Bisi, V. Rapić-Otrin, 2003, Human molecular genetics.

Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB

E. Dogliotti, M. D'errico, A. Calcagnile, 2003, Cell Death and Differentiation.

Short- and long-term outcomes of every graft recovered during a multi-organ procurement procedure including the intestine.

R. Favaloro, E. Botta, L. Gaite, 2014, Transplantation proceedings.

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

S. Bondanza, D. Orioli, F. Benedicenti, 2009, Human mutation.

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.

A. Lehmann, M. Stefanini, T. Nardò, 1998, American journal of human genetics.

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

S. Colella, A. Lehmann, M. Stefanini, 2000, Human molecular genetics.

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

Sikandar G. Khan, R. Stephens, S. Seneca, 2016, American journal of human genetics.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2021, Human molecular genetics.

Cellular and genetic characterization of UV sensitive Chinese hamster mutants.

C. Mondello, R. Riboni, M. Stefanini, 1989, Annali dell'Istituto superiore di sanita.

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

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2019, American journal of human genetics.

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

D. Orioli, M. Teson, G. Zambruno, 2015, Experimental dermatology.