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Molecular Biology

D-Index
57
Citations
9734
World Ranking
2162
National Ranking
47

Overview

Miria Stefanini is affiliated with the National Research Council (CNR) in Italy. Their research predominantly falls within the field of Biochemistry, Genetics and Molecular Biology, with specific focus areas in Molecular Biology, Rheumatology, and Materials Chemistry.

The scientist's work addresses multiple topics including:

  • Porphyrin Metabolism and Disorders
  • DNA Repair Mechanisms
  • Folate and B Vitamins Research
  • Heat shock proteins research
  • RNA regulation and disease
  • Enzyme Structure and Function

Stefanini's recent publications illustrate their research interests and contributions. These include:

  • "Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation," published in 2021 in Nucleic Acids Research
  • "TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy," published in 2022 in Human Mutation

Their frequent co-authors reflect collaborative relationships across multiple studies, including Manuela Lanzafame, Tiziana Nardò, Donata Orioli, Giulia Branca, and Claudia Landi.

Stefanini's works have appeared primarily in the following publication venues:

  • Nucleic Acids Research
  • Human Mutation

Best Publications

  • The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

    Karla A. Henning;Lei Li;Narayan Iyer;Lisa D. McDaniel

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

    Giuseppina Giglia-Mari;Frederic Coin;Jeffrey A Ranish;Deborah Hoogstraten

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

    Elaine M. Taylor;Bernard C. Broughton;Elena Botta;Miria Stefanini

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

    Wim J. Kleijer;Vincent Laugel;Mark Berneburg;Tiziana Nardo

  • New functions of XPC in the protection of human skin cells from oxidative damage

    Mariarosaria D'Errico;Eleonora Parlanti;Massimo Teson;Bruno M Bernardes De Jesus

  • Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Kazuya Kashiyama;Yuka Nakazawa;Daniela T. Pilz;Chaowan Guo

  • Basal Transcription Defect Discriminates between Xeroderma Pigmentosum and Trichothiodystrophy in XPD Patients

    Sandy Dubaele;Luca Proietti De Santis;Rachelle J Bienstock;Anne Keriel

  • Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

    Yuka Nakazawa;Kensaku Sasaki;Norisato Mitsutake;Michiko Matsuse

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

    Hiva Fassihi;Mieran Sethi;Heather Fawcett;Jonathan Wing

  • Three Unusual Repair Deficiencies Associated with Transcription Factor BTF2(TFIIH): Evidence for the Existence of a Transcription Syndrome

    W. Vermeulen;A.J. van Vuuren;M. Chipoulet;L. Schaeffer

  • Variations of DNA polymerase-alpha and -beta during prolonged stimulation of human lymphocytes.

    Umberto Bertazzoni;Miria Stefanini;Guido Pedrali Noy;Elena Giulotto

  • Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

    Donna L. Mallery;Bianca Tanganelli;Stefano Colella;Herdis Steingrimsdottir

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

    Tiziana Nardo;Roberta Oneda;Graciela Spivak;Bruno Vaz

  • Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

    M. Stefanini;P. Lagomarsini;C. F. Arlett;S. Marinoni

  • Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

    Franz Chavanne;Bernard C. Broughton;Daniela Pietra;Tiziana Nardo

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

    M D'Errico;E Parlanti;M Teson;P Degan

  • Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.

    Vesna Rapić Otrin;Isao Kuraoka;Tiziana Nardo;Mary McLenigan

  • 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.

    B.C. Broughton;A.F. Thompson;S.A. Harcourt;Wim Vermeulen

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

    Elena Botta;Tiziana Nardo;Alan R. Lehmann;Jean-Marc Egly

  • Sensitivity of CHO mutant cell lines with specific defects in nucleotide excision repair to different anti-cancer agents

    Giovanna Damia;Luigi Imperatori;Miria Stefanini;Maurizio D'Incalci

Frequent Co-Authors

Alan R. Lehmann
Alan R. Lehmann University of Sussex
Giovanna Zambruno
Giovanna Zambruno Bambino Gesù Children's Hospital
Alain Sarasin
Alain Sarasin Institut Gustave Roussy
Jan H.J. Hoeijmakers
Jan H.J. Hoeijmakers Erasmus University Rotterdam
Jean-Marc Egly
Jean-Marc Egly Institute of Genetics and Molecular and Cellular Biology
Nicolaas G. J. Jaspers
Nicolaas G. J. Jaspers Erasmus University Rotterdam
Elena Giulotto
Elena Giulotto University of Pavia
Eugenia Dogliotti
Eugenia Dogliotti Istituto Superiore di Sanità
Wim Vermeulen
Wim Vermeulen Erasmus University Rotterdam
Colin F. Arlett
Colin F. Arlett University of Sussex

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