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List of works by Elena Botta

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

scientific article published on August 1996

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

scientific article

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

scientific article

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 ⬇️

scientific article published on October 1, 1998

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

scientific article published in June 2003

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

scientific article published on 01 August 2019

Cellular and genetic characterization of UV sensitive Chinese hamster mutants

scientific article published on 01 January 1989

Cellular and genetic studies in three UV-sensitive Chinese hamster mutants.

scientific article published in October 1987

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

scientific article published on 16 February 2016

From laboratory tests to functional characterisation of Cockayne syndrome.

scientific article published on 06 April 2013

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

scientific article published on 23 March 2018

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

scientific article published on 16 March 2016

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

scientific article published in June 1993

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

scientific article

Heterogeneity and overlaps in nucleotide excision repair disorders

scientific article published on 28 March 2019

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

scientific article published on December 1, 1992

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

scientific article

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

scientific article published on August 1, 1991

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features

scientific article published on 11 May 2018

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

scientific article published on 01 November 2002

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

scientific article published in April 2015

Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome

scientific article published on September 2005

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.

scientific article

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

scientific article published on 01 July 2005

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

scientific article published on August 1997

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