Donata Orioli

Pavia, Italy

Last Updated: 09/26/2026

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Found 27 publications

Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.

Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.

Journal: Clinical genetics
Published: August 27, 2025

Amy and Friends: improving the lives of individuals affected by DNA repair disorders.

Amy and Friends: improving the lives of individuals affected by DNA repair disorders.

Journal: FEBS letters
Published: April 14, 2025

Transcription: friend or foe of genome stability.

Transcription: friend or foe of genome stability.

Journal: FEBS letters
Published: December 11, 2024

Trichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.

Trichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.

Journal: Nucleic acids research
Published: September 04, 2024

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.

Journal: Cells
Published: February 22, 2023

TFIIH mutations can impact on translational fidelity of the ribosome.

TFIIH mutations can impact on translational fidelity of the ribosome.

Journal: Human molecular genetics
Published: August 23, 2022

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

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

Journal: Human mutation
Published: July 14, 2022

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 22, 2021

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

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

Journal: Nucleic acids research
Published: January 05, 2021

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

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

Journal: Clinical genetics
Published: November 17, 2020

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Journal: Human molecular genetics
Published: September 11, 2020

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

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

Journal: American journal of human genetics
Published: March 28, 2019
Showing 1-12 of 27

Last Updated: 09/26/2026