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Mireille Claustres

Mireille Claustres

Overview

Mireille Claustres is affiliated with Inserm in France and has contributed extensively to research in medicine, biochemistry, genetics, and molecular biology. Their scientific work primarily intersects multiple fields, including pulmonary and respiratory medicine, molecular biology, genetics, rehabilitation, and physiology.

The scientist's recent publications cover a range of topics emphasizing cystic fibrosis, muscle physiology and disorders, neonatal respiratory health, tracheal and airway disorders, RNA modifications and cancer, RNA research and splicing, and exercise and physiological responses.

Notable recent papers include the following:

  • TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (2020), published in European Journal of Human Genetics
  • Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward (2021), published in Journal of Cystic Fibrosis
  • Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy (2020), published in Frontiers in Genetics
  • Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis (2020), published in PLoS ONE
  • First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene (2020), published in International Journal of Molecular Sciences

Frequent co-authors in Mireille Claustres's collaborations include:

  • Sylvie Tuffery-Giraud
  • Anne Bergougnoux
  • Magali Taulan-Cadars
  • M. Kœnig
  • Pietro Spitali

Research outputs have been published regularly in the following journals:

  • Journal of Cystic Fibrosis
  • European Journal of Human Genetics
  • Frontiers in Genetics
  • PLoS ONE
  • International Journal of Molecular Sciences

The scientist's work spans multiple main topics, including:

  • Cystic Fibrosis Research Advances
  • Muscle Physiology and Disorders
  • Neonatal Respiratory Health Research
  • Tracheal and airway disorders
  • RNA modifications and cancer
  • RNA Research and Splicing
  • Exercise and Physiological Responses

Mireille Claustres's research integrates genetic modifiers, molecular mechanisms, and biomarker identification across chronic and neonatal respiratory diseases as well as neuromuscular disorders. The combination of genetic, biochemical, and physiological approaches supports an interdisciplinary perspective on human health conditions relevant to both disease progression and therapeutic response.

Best Publications

  • Human Splicing Finder: an online bioinformatics tool to predict splicing signals

    François Olivier Desmet;Dalil Hamroun;Marine Lalande;Gwenaëlle Collod-Bëroud

  • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

    C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  • Heterozygous TGFBR2 mutations in Marfan syndrome

    Takeshi Mizuguchi;Gwenaëlle Collod-Beroud;Takushi Akiyama;Marianne Abifadel

  • Mutations in RPE65 cause Leber's congenital amaurosis

    Marlhens F;Bareil C;Griffoin Jm;Zrenner E

  • Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

    J. Claiborne Stephens;David E. Reich;David B. Goldstein;Hyoung Doo Shin

  • Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

    L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  • Recommendations for the classification of diseases as CFTR-related disorders

    Cristina Bombieri;M Claustres;K De Boeck;N Derichs

  • The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  • Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

    Philippe Coubes;Laura Cif;Hassan El Fertit;Simone Hemm

  • Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

    Sylvie Tuffery-Giraud;Sylvie Tuffery-Giraud;Christophe Béroud;Christophe Béroud;Rabah Ben Yaou;Rabah Ben Yaou

  • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  • Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

    David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

    Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

    Mireille Claustres;Caroline Guittard;Dominique Bozon;Françoise Chevalier

  • Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia

    Eva Liis Loogväli;Urmas Roostalu;Boris A. Malyarchuk;Miroslava V. Derenko

  • PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

    Inga Ebermann;Jennifer B. Phillips;Max C. Liebau;Robert K. Koenekoop

  • Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

    Christophe Béroud;Sylvie Tuffery-Giraud;Masafumi Matsuo;Dalil Hamroun

  • A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

    Nathalie Pallares-Ruiz;Patricia Blanchet;Michel Mondain;Mireille Claustres

  • Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

    Laurence Faivre;Alice Masurel-Paulet;Gwenaëlle Collod-Béroud;Bert L Callewaert

  • Cardiovascular manifestations in men and women carrying a FBN1 mutation

    Delphine Détaint;Laurence Faivre;Gwenaelle Collod-Beroud;Gwenaelle Collod-Beroud;Anne H. Child

Frequent Co-Authors

Jacques Demaille
Jacques Demaille Centre national de la recherche scientifique, CNRS
Claude Férec
Claude Férec University of Western Brittany
Christophe Béroud
Christophe Béroud Aix-Marseille University
Thierry Bienvenu
Thierry Bienvenu Université Paris Cité
Manfred Stuhrmann
Manfred Stuhrmann Hannover Medical School
Marianne Schwartz
Marianne Schwartz University of Copenhagen
Michel Goossens
Michel Goossens Grenoble Alpes University
Pier Franco Pignatti
Pier Franco Pignatti University of Verona

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