D. Orioli

发表

Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor

Rüdiger Klein, Greg Lemke, R. Klein, 1995, Nature.

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

K. Sugasawa, F. Hanaoka, D. Orioli, 2007, Molecular and Cellular Biology.

The Eph receptor family: axonal guidance by contact repulsion.

R. Klein, D. Orioli, R Klein, 1997, Trends in genetics : TIG.

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.

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.

Trichothiodystrophy

D. Orioli, M. Stefanini, 2018, DNA Repair Disorders.

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

A. Lehmann, D. Orioli, J. Egly, 2015, Proceedings of the National Academy of Sciences.

Transfer of a Human Chromosomal Vector from a Hamster Cell Line to a Mouse Embryonic Stem Cell Line

G. Mazzini, M. D’Incalci, E. Erba, 2007, Stem cells.

R. Klein, D. Orioli, R. Brambilla, 1996, Molecular and Cellular Neuroscience.

Rab17 Regulates Membrane Trafficking through Apical Recycling Endosomes in Polarized Epithelial Cells

M. Zerial, I. Mellman, P. Zacchi, 1998, The Journal of cell biology.

Rab 17 Regulates Membrane Trafficking through Apical Recycling Endosomes in Polarized Epithelial Cells

M. Zerial, I. Mellman, P. Zacchi, 1998 .

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.

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.

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

P. Hanawalt, A. Sarasin, G. Spivak, 2009, Proceedings of the National Academy of Sciences.

From laboratory tests to functional characterisation of Cockayne syndrome

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

Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells

P. Degan, E. Dogliotti, M. D'errico, 2016, Oncotarget.

Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer

D. Calistri, G. Ranzani, D. Orioli, 2016, OncoTarget.

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

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

From Structure to Phenotype: Impact of Collagen Alterations on Human Health

D. Orioli, Lavinia Arseni, Anita Lombardi, 2018, International journal of molecular sciences.

Studies on the ATP Binding Site of Fyn Kinase for the Identification of New Inhibitors and Their Evaluation as Potential Agents against Tauopathies and Tumors.

G. Biamonti, M. Radi, C. Tintori, 2015, Journal of medicinal chemistry.

Epigenetic Regulation of Skin Cells in Natural Aging and Premature Aging Diseases

E. Dellambra, D. Orioli, 2018, Cells.

Nuk Controls Pathfinding of Commissural Axons in the Mammalian Central Nervous System

T. Pawson, J. Roder, R. Klein, 1996, Cell.

Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation.

T. Pawson, R. Klein, G. Lemke, 1996, The EMBO journal.

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.

E. Dellambra, P. Degan, D. Orioli, 2019, The Journal of investigative dermatology.

Unified Nomenclature for Eph Family Receptors and Their Ligands, the Ephrins

T Pawson, C. Goodman, T. Pawson, 1997, Cell.

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

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

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

M. Mura, Bruno Vaz, C. Landi, 2021, Nucleic acids research.

The role of CSA in the response to oxidative DNA damage in human cells

I Iavarone, G Zambruno, E. Parlanti, 2007, Oncogene.

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.

Rac3-induced neuritogenesis requires binding to Neurabin I.

S. Riva, D. Orioli, C. Dotti, 2006, Molecular biology of the cell.

TFIIH mutations can impact on translational fidelity of the ribosome

P. Maity, S. Wiese, D. Orioli, 2022, Human molecular 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.

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy

H. Kestler, P. Maity, D. Orioli, 2023, Cells.

Trichothiodystrophy

D. Orioli, M. Stefanini, 2018, DNA Repair Disorders.

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

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