Publications by authors named "Isabelle Callebaut"

100Publications

Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Front Pharmacol 2020 17;11:295. Epub 2020 Mar 17.

Laboratoire Signalisation et Transports Ioniques Membranaires, Université de Poitiers, CNRS, Poitiers, France.

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http://dx.doi.org/10.3389/fphar.2020.00295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092619PMC
March 2020

First heterozygous mutation in familial pulmonary fibrosis.

Eur Respir J 2020 06 11;55(6). Epub 2020 Jun 11.

2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.

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http://dx.doi.org/10.1183/13993003.02465-2019DOI Listing
June 2020

Exploring the basic mechanisms in Cystic Fibrosis: Promoting data presentation and discussion at the 16th ECFS Basic Science Conference.

J Cyst Fibros 2020 Mar 10;19 Suppl 1:S1-S4. Epub 2020 Jan 10.

Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande 1749-016, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.jcf.2019.12.013DOI Listing
March 2020

CFTR: New insights into structure and function and implications for modulation by small molecules.

J Cyst Fibros 2020 Mar 21;19 Suppl 1:S19-S24. Epub 2019 Nov 21.

School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1016/j.jcf.2019.10.021DOI Listing
March 2020

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

FASEB J 2019 12 5;33(12):14625-14635. Epub 2019 Nov 5.

INSERM Unité Mixte de Recherche (UMR) 1078, Etablissement Français du Sang-Bretagne, Institut Brestois Santé-Agro-Matière, Université Bretagne Loire-Université de Brest, Brest, France.

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http://dx.doi.org/10.1096/fj.201901857RDOI Listing
December 2019

Concomitant and deficiencies cause chronic active Epstein-Barr virus infection of T cells.

J Exp Med 2019 12 19;216(12):2800-2818. Epub 2019 Sep 19.

Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Institut National de la Santé et la Recherche Médicale, Unité Mixte de Recherche 1163, Paris, France

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http://dx.doi.org/10.1084/jem.20190678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888974PMC
December 2019

A topology-based investigation of protein interaction sites using Hydrophobic Cluster Analysis.

Biochimie 2019 Dec 13;167:68-80. Epub 2019 Sep 13.

Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, 75005, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2019.09.009DOI Listing
December 2019

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Transfusion 2019 04 27;59(4):1367-1375. Epub 2019 Feb 27.

UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", INSERM, EFS, Université de Brest, IBSAM, CHU de Brest, Brest, France.

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http://dx.doi.org/10.1111/trf.15210DOI Listing
April 2019

Discovery and Evolution of New Domains in Yeast Heterochromatin Factor Sir4 and Its Partner Esc1.

Genome Biol Evol 2019 02;11(2):572-585

Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, IRD, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France.

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https://academic.oup.com/gbe/advance-article/doi/10.1093/gbe
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http://dx.doi.org/10.1093/gbe/evz010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394760PMC
February 2019

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Mol Genet Metab 2019 11 7;128(3):342-351. Epub 2019 Jan 7.

INSERM U1149, Centre de Recherche sur l'inflammation (CRI), Paris, France; Université Paris Diderot, site Bichat, Sorbonne Paris cité, DHU UNITY, Paris, France; Laboratory of excellence GR-Ex, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.012DOI Listing
November 2019

Editorial: Hybrid Biomolecular Modeling.

Front Mol Biosci 2018 9;5:98. Epub 2018 Nov 9.

Sorbonne Université, UMR CNRS 7590, Muséum National d'Histoire Naturelle, IRD, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France.

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http://dx.doi.org/10.3389/fmolb.2018.00098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238118PMC
November 2018

Order in Disorder as Observed by the "Hydrophobic Cluster Analysis" of Protein Sequences.

Proteomics 2018 11 30;18(21-22):e1800054. Epub 2018 Oct 30.

Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie (IMPMC), Institut de recherche pour le développement (IRD), UMR CNRS 7590, Muséum National d'Histoire Naturelle, Sorbonne Université, 75005, Paris, France.

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http://doi.wiley.com/10.1002/pmic.201800054
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http://dx.doi.org/10.1002/pmic.201800054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168002PMC
November 2018

The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Haematologica 2018 11 12;103(11):1796-1805. Epub 2018 Jul 12.

UMR1078, INSERM, Université Bretagne Loire - Université de Bretagne Occidentale, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France

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http://dx.doi.org/10.3324/haematol.2018.189845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278975PMC
November 2018

Origins and structural properties of novel and de novo protein domains during insect evolution.

FEBS J 2018 07 29;285(14):2605-2625. Epub 2018 Jun 29.

Institute for Evolution and Biodiversity, Westfalian Wilhelms University Muenster, Germany.

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http://dx.doi.org/10.1111/febs.14504DOI Listing
July 2018

Combining theoretical and experimental data to decipher CFTR 3D structures and functions.

Cell Mol Life Sci 2018 Oct 19;75(20):3829-3855. Epub 2018 May 19.

Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, IRD, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, 75005, Paris, France.

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http://dx.doi.org/10.1007/s00018-018-2835-7DOI Listing
October 2018

A One-Pot Synthesis of Highly Functionalized Purines.

Org Lett 2017 12 10;19(23):6360-6363. Epub 2017 Nov 10.

Univ. Grenoble Alpes , CNRS, DPM, 38000 Grenoble, France.

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http://dx.doi.org/10.1021/acs.orglett.7b03209DOI Listing
December 2017

The implications of CFTR structural studies for cystic fibrosis drug development.

Curr Opin Pharmacol 2017 06 5;34:112-118. Epub 2017 Nov 5.

CNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie - Paris 6 - MNHN - IRD - IUC, Paris, France.

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http://dx.doi.org/10.1016/j.coph.2017.09.006DOI Listing
June 2017

CFTR structure.

J Cyst Fibros 2018 03 31;17(2S):S5-S8. Epub 2017 Aug 31.

Molecular Medicine, The Hospital for Sick Children, Toronto M5G 0A4, Canada; Department of Biochemistry, University of Toronto, Toronto M5G 1X8, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S15691993173087
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http://dx.doi.org/10.1016/j.jcf.2017.08.008DOI Listing
March 2018

Thrombospondin-1 (TSP-1), a new bone morphogenetic protein-2 and -4 (BMP-2/4) antagonist identified in pituitary cells.

J Biol Chem 2017 09 26;292(37):15352-15368. Epub 2017 Jul 26.

From the Unité Physiologie de la Reproduction et des Comportements, UMR85, Institut National de la Recherche Agronomique, CNRS, Institut Français du Cheval et de l'Equitation, Université de Tours, F-37380 Nouzilly, France,

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http://dx.doi.org/10.1074/jbc.M116.736207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602395PMC
September 2017

Exploring the dark foldable proteome by considering hydrophobic amino acids topology.

Sci Rep 2017 01 30;7:41425. Epub 2017 Jan 30.

CNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie - Paris 6 - MNHN - IRD - IUC, Paris, France.

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http://dx.doi.org/10.1038/srep41425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278394PMC
January 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

Molecular modelling and molecular dynamics of CFTR.

Cell Mol Life Sci 2017 01 7;74(1):3-22. Epub 2016 Oct 7.

UMR CNRS 7590, Museum National d'Histoire Naturelle, IRD UMR 206, IUC, Case 115, IMPMC, Sorbonne Universités, UPMC Univ Paris 06, 4 Place Jussieu, 75005, Paris Cedex 05, France.

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http://dx.doi.org/10.1007/s00018-016-2385-9DOI Listing
January 2017

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.

Br J Haematol 2017 08 13;178(4):648-651. Epub 2016 Jun 13.

Département de génétique, hôpital Bichat, HUPNVS, Paris, France.

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http://dx.doi.org/10.1111/bjh.14164DOI Listing
August 2017

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

J Pediatr Gastroenterol Nutr 2017 03;64(3):378-384

*INSERM, UMR1163, Laboratory of Intestinal Immunity †Université Paris Descartes-Sorbonne Paris Cité and Institut IMAGINE ‡Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris §GENIUS Group (GENetically and/or ImmUne mediated enteropathieS) From ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) ||Department of Allergology, Rheumatology and Clinical Immunology ¶Department of Haemato-oncology, University Children's Hospital, University Medical Center, Ljubljana, Slovenia #Institut de Minéralogie, de Physique des Matériaux, et de Cosmochimie, Sorbonne Universités-UMR CNRS 7590, UPMC Université Paris 6, Muséum National d'Histoire Naturelle, IRD UMR 206, IUC **Bioinformatics Platform, Université Paris-Descartes-Paris Sorbonne Centre and Institut IMAGINE ††Genomic platform, Institut IMAGINE, Paris, France ‡‡Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital §§Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia ||||INSERM, UMR1163, Immunogenetics of Pediatric Autoimmunity, Paris, France.

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http://dx.doi.org/10.1097/MPG.0000000000001262DOI Listing
March 2017

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

J Exp Med 2016 05 16;213(6):1011-28. Epub 2016 May 16.

Genome Dynamics in the Immune System Laboratory, Institut National de la Santé et de la Recherche Médicale, UMR 1163, Institut Imagine, Université Paris Descartes, Sorbonne Paris Cité, 75006 Paris, France

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http://jem.rupress.org/content/213/6/1011.full.pdf
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http://www.jem.org/lookup/doi/10.1084/jem.20151183
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http://dx.doi.org/10.1084/jem.20151183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886357PMC
May 2016

New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.

Transfusion 2016 05 20;56(5):1223-9. Epub 2016 Mar 20.

Laboratoire d'Hématologie Moléculaire, Biologie des Groupes Sanguins, Établissement Français du Sang Alpes Méditerranée.

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http://dx.doi.org/10.1111/trf.13553DOI Listing
May 2016

The respective roles of polar/nonpolar binary patterns and amino acid composition in protein regular secondary structures explored exhaustively using hydrophobic cluster analysis.

Proteins 2016 May 9;84(5):624-38. Epub 2016 Mar 9.

CNRS UMR7590, Sorbonne Universités, Université Pierre Et Marie Curie-Paris6 - MNHN - IRD - IUC, Paris, France.

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http://dx.doi.org/10.1002/prot.25012DOI Listing
May 2016

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

J Allergy Clin Immunol 2015 Dec 26;136(6):1619-1626.e5. Epub 2015 Jul 26.

INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.06.008DOI Listing
December 2015

Mutation of a Single Envelope N-Linked Glycosylation Site Enhances the Pathogenicity of Bovine Leukemia Virus.

J Virol 2015 Sep 17;89(17):8945-56. Epub 2015 Jun 17.

Molecular Biology (GxABT) and Molecular and Cellular Epigenetics (GIGA), University of Liege, Gembloux and Liege, Belgium

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http://dx.doi.org/10.1128/JVI.00261-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524091PMC
September 2015

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Eur Respir J 2015 Aug 28;46(2):474-85. Epub 2015 May 28.

Université Paris Diderot, Sorbonne Paris Cité, Paris, France APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE Centre de compétence des maladies pulmonaires rares, Paris, France.

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http://dx.doi.org/10.1183/09031936.00040115DOI Listing
August 2015

Expanding Duplication of Free Fatty Acid Receptor-2 (GPR43) Genes in the Chicken Genome.

Genome Biol Evol 2015 Apr 24;7(5):1332-48. Epub 2015 Apr 24.

UMR85 Physiologie de la Reproduction et des Comportements, INRA, Nouzilly, France UMR7247, CNRS, Nouzilly, France Université François Rabelais de Tours, France Institut Français du Cheval et de l'Equitation, Nouzilly, France

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http://dx.doi.org/10.1093/gbe/evv072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453067PMC
April 2015

Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

J Physiol 2015 Jun 9;593(11):2427-46. Epub 2015 Apr 9.

School of Physiology and Pharmacology, University of Bristol, Medical Sciences Building, University Walk, Bristol, BS8 1TD, UK.

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http://dx.doi.org/10.1113/JP270227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461407PMC
June 2015

Detection of orphan domains in Drosophila using "hydrophobic cluster analysis".

Biochimie 2015 Dec 28;119:244-53. Epub 2015 Feb 28.

IMPMC, Sorbonne Universités - UMR CNRS 7590, UPMC Univ Paris 06, Muséum National d'Histoire Naturelle, IRD UMR 206, IUC 4 Place Jussieu, F-75005 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2015.02.019DOI Listing
December 2015

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

FEBS Lett 2014 Nov 18;588(23):4431-7. Epub 2014 Oct 18.

CNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie-Paris6 - MNHN - IRD - IUC, Paris, France. Electronic address:

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http://doi.wiley.com/10.1016/j.febslet.2014.10.014
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http://dx.doi.org/10.1016/j.febslet.2014.10.014DOI Listing
November 2014

Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.

Cell Mol Life Sci 2015 Apr 7;72(7):1377-403. Epub 2014 Oct 7.

IMPMC, Sorbonne Universités, UPMC Univ Paris 06, UMR CNRS 7590, Museum National d'Histoire Naturelle, IRD UMR 206, IUC, Case 115, 4 Place Jussieu, 75005, Paris Cedex 05, France.

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http://dx.doi.org/10.1007/s00018-014-1749-2DOI Listing
April 2015

Function, pharmacological correction and maturation of new Indian CFTR gene mutations.

J Cyst Fibros 2015 Jan 16;14(1):34-41. Epub 2014 Jul 16.

Laboratoire Signalisation et Transports Ioniques Membranaires, Université de Poitiers, CNRS, Poitiers, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2014.06.008DOI Listing
January 2015

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Hum Mol Genet 2014 Sep 8;23(17):4479-90. Epub 2014 Apr 8.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Inserm U1078, Université de Brest, SFR SnInBioS, CHRU de Brest, Etablissement Français du Sang - Bretagne, Brest, France CHRU de Brest, Inserm CIC0502, Brest, France

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http://dx.doi.org/10.1093/hmg/ddu160DOI Listing
September 2014

Mice expressing RHAG and RHD human blood group genes.

PLoS One 2013 18;8(11):e80460. Epub 2013 Nov 18.

Institut National de la Transfusion Sanguine, Paris, France ; Inserm UMR_S 665, Paris, France ; Université Paris Diderot, Sorbonne Paris Cité, UMR-S665, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080460PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832391PMC
August 2014

Comprehensive repertoire of foldable regions within whole genomes.

PLoS Comput Biol 2013 Oct 24;9(10):e1003280. Epub 2013 Oct 24.

CNRS, UPMC Univ Paris 6, IMPMC, UMR7590 - IUC, Paris, France.

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http://dx.doi.org/10.1371/journal.pcbi.1003280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812050PMC
October 2013

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

Proteins 2014 Jun 22;82(6):897-903. Epub 2013 Nov 22.

CNRS, UPMC University Paris 6, IMPMC, UMR7590-IUC, F-75005, Paris, France.

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http://dx.doi.org/10.1002/prot.24438DOI Listing
June 2014

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

Hum Mutat 2013 Oct 10;34(10):1371-80. Epub 2013 Sep 10.

Inserm UMR1078, Université de Brest, SFR SnInBioS, Centre Hospitalier Régional Universitaire - Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Etablissement Français du Sang - Bretagne, Brest, France.

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http://dx.doi.org/10.1002/humu.22369DOI Listing
October 2013

Identification of hidden relationships from the coupling of hydrophobic cluster analysis and domain architecture information.

Bioinformatics 2013 Jul 14;29(14):1726-33. Epub 2013 May 14.

IMPMC, UMR7590, CNRS, Université Pierre et Marie Curie-Paris6, Paris Cedex 05, France.

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http://dx.doi.org/10.1093/bioinformatics/btt271DOI Listing
July 2013

CFTR: effect of ICL2 and ICL4 amino acids in close spatial proximity on the current properties of the channel.

J Cyst Fibros 2013 Dec 9;12(6):737-45. Epub 2013 Mar 9.

Institut de Physiologie et Biologie Cellulaires, Université de Poitiers, CNRS, Poitiers, France.

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http://dx.doi.org/10.1016/j.jcf.2013.02.002DOI Listing
December 2013

Toxoplasma gondii Alba proteins are involved in translational control of gene expression.

J Mol Biol 2013 Apr 21;425(8):1287-301. Epub 2013 Feb 21.

Center for Infection and Immunity of Lille, CNRS UMR 8204, INSERM 1019, Université Lille Nord de France, Institut Pasteur de Lille, Lille, France.

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http://dx.doi.org/10.1016/j.jmb.2013.01.039DOI Listing
April 2013

End-joining inhibition at telomeres requires the translocase and polySUMO-dependent ubiquitin ligase Uls1.

EMBO J 2013 Mar 15;32(6):805-15. Epub 2013 Feb 15.

CEA, Direction des sciences du vivant/Institut de radiobiologie cellulaire et moléculaire/Service instabilité génétique réparation recombinaison/Laboratoire télomère et réparation du chromosome, Fontenay-aux-roses, France.

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http://dx.doi.org/10.1038/emboj.2013.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604719PMC
March 2013

The PWAPA cassette: Intimate association of a PHD-like finger and a winged-helix domain in proteins included in histone-modifying complexes.

Biochimie 2012 Sep 1;94(9):2006-12. Epub 2012 Jun 1.

IMPMC, UMR7590, CNRS, Université Pierre et Marie Curie, Case 115, 4 place Jussieu, 75252 Paris Cedex 05, France.

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http://dx.doi.org/10.1016/j.biochi.2012.05.025DOI Listing
September 2012

Characterization of novel RHD alleles: relationship between phenotype, genotype, and trimeric architecture.

Transfusion 2012 Sep 10;52(9):2020-9. Epub 2012 Feb 10.

Laboratoire d'Hématologie Moléculaire, Établissement Français du Sang Alpes Méditerranée, UMR 6578, Université Aix-Marseille, Marseille, France.

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http://dx.doi.org/10.1111/j.1537-2995.2011.03544.xDOI Listing
September 2012

Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining.

Proc Natl Acad Sci U S A 2011 Aug 18;108(31):12663-8. Epub 2011 Jul 18.

Laboratory of Structural Biology and Radiobiology, Commissariat à l'Energie Atomique et aux Energies Alternatives, Institut de Biologie et de Technologies de Saclay, 91191 Gif-s-Yvette, France.

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http://dx.doi.org/10.1073/pnas.1100758108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150875PMC
August 2011

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.

Eur J Hum Genet 2011 Sep 27;19(9):965-73. Epub 2011 Apr 27.

Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, Wilrijk, Belgium.

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http://dx.doi.org/10.1038/ejhg.2011.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179363PMC
September 2011

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

J Biol Chem 2010 Aug 17;285(34):26475-83. Epub 2010 Jun 17.

INSERM, Hôpital Necker-Enfants Malades U768, Unité de Développement Normal et Pathologique du Système Immunitaire, Paris, France.

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http://dx.doi.org/10.1074/jbc.M110.138156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924081PMC
August 2010

C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.

J Biol Chem 2010 Jul 30;285(29):22132-40. Epub 2010 Apr 30.

Institut de Physiologie et Biologie Cellulaires, Université de Poitiers, CNRS, 86022 Poitiers, France.

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http://dx.doi.org/10.1074/jbc.M110.120683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903390PMC
July 2010

LOTUS, a new domain associated with small RNA pathways in the germline.

Bioinformatics 2010 May 19;26(9):1140-4. Epub 2010 Mar 19.

IMPMC-UMR7590, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1093/bioinformatics/btq122DOI Listing
May 2010

Molecular models of the open and closed states of the whole human CFTR protein.

Cell Mol Life Sci 2009 Nov 26;66(21):3469-86. Epub 2009 Aug 26.

IMPMC, UMR7590, CNRS, Universités Pierre et Marie Curie-Paris 6 et Denis Diderot-Paris 7, 140 Rue de Lourmel, Paris, France.

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http://dx.doi.org/10.1007/s00018-009-0133-0DOI Listing
November 2009

Functional analysis of human RhCG: comparison with E. coli ammonium transporter reveals similarities in the pore and differences in the vestibule.

Am J Physiol Cell Physiol 2009 Sep 24;297(3):C537-47. Epub 2009 Jun 24.

Institut National de la Santé et de la Recherche Médicale, UMR-S665, Paris, France.

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http://dx.doi.org/10.1152/ajpcell.00137.2009DOI Listing
September 2009

Dombrock genotyping in a native Congolese cohort reveals two novel alleles.

Transfusion 2009 Aug;49(8):1661-71

Laboratoire d’Hématologie Moléculaire, EFS Alpes Méditerranée, UMR 6578, Université de la Méditerranée, 207 Boulevard Sainte Marguerite, 13009, Marseille, France.

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http://dx.doi.org/10.1111/j.1537-2995.2009.02193.xDOI Listing
August 2009

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

Bioinformatics 2009 May 16;25(10):1219-22. Epub 2009 Mar 16.

INSERM, U768, Paris, F-75015, France.

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http://dx.doi.org/10.1093/bioinformatics/btp151DOI Listing
May 2009

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.

Mol Cell Biol 2009 Mar 22;29(5):1116-22. Epub 2008 Dec 22.

INSERM U768, Malades, U768, Unité de Développement Normal et Pathologique du Système Immunitaire, Hopital Necker-Enfants Malades, 149, rue de Sevres, 75015 Paris, France.

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http://dx.doi.org/10.1128/MCB.01521-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643816PMC
March 2009

A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.

DNA Repair (Amst) 2009 Feb 4;8(2):202-8. Epub 2008 Dec 4.

INSERM U768, Unité Développement Normal et Pathologique du Système Immunitaire, Hôpital Necker-Enfants Malades,149 rue de Sèvres, Paris F-75015, France.

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http://dx.doi.org/10.1016/j.dnarep.2008.10.010DOI Listing
February 2009

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.

Biochim Biophys Acta 2008 Nov 7;1782(11):664-70. Epub 2008 Oct 7.

Université Pierre et Marie Curie-Paris 6, IMPMC-UMR7590, Paris, F-75005, France.

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http://dx.doi.org/10.1016/j.bbadis.2008.09.011DOI Listing
November 2008

Human mismatch repair protein MSH6 contains a PWWP domain that targets double stranded DNA.

Biochemistry 2008 Jun 17;47(23):6199-207. Epub 2008 May 17.

CEA Laboratoire de Biologie Structurale et Radiobiologie, iBiTec-Saclay, 91191 Gif sur Yvette, France.

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http://dx.doi.org/10.1021/bi7024639DOI Listing
June 2008

P3 peptide, a truncated form of A beta devoid of synaptotoxic effect, does not assemble into soluble oligomers.

FEBS Lett 2008 Jun 12;582(13):1865-70. Epub 2008 May 12.

CI-NAPS, UMR 6232 - UCBN - CNRS, Centre CYCERON, Bd. Henri Becquerel, 14074 Caen Cedex, France.

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http://doi.wiley.com/10.1016/j.febslet.2008.05.002
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http://dx.doi.org/10.1016/j.febslet.2008.05.002DOI Listing
June 2008

Multiple pathways inhibit NHEJ at telomeres.

Genes Dev 2008 May;22(9):1153-8

Centre National de la Recherche Scientifque UMR 217, Institut de Radiobiologie Cellulaire et Moléculaire, CEA/Fontenay, 92265 Fontenay-aux-roses cedex, France.

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http://dx.doi.org/10.1101/gad.455108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2335312PMC
May 2008

GPR50 is the mammalian ortholog of Mel1c: evidence of rapid evolution in mammals.

BMC Evol Biol 2008 Apr 9;8:105. Epub 2008 Apr 9.

Physiologie de la Reproduction et des Comportements, UMR 6175 INRA-CNRS-Université François Rabelais de Tours-Haras Nationaux, 37380 Nouzilly, France.

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http://dx.doi.org/10.1186/1471-2148-8-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2323367PMC
April 2008

Calcineurin B-like domains in the large regulatory alpha/beta subunits of phosphorylase kinase.

Proteins 2008 Jun;71(4):1597-606

Département de Biologie Structurale, Institut de Minéralogie et de Physique des Milieux Condensés, UMR 7590, CNRS, Universités Paris 6 et Paris 7, Paris, France.

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http://dx.doi.org/10.1002/prot.22006DOI Listing
June 2008

Characterization of non-trivial neighborhood fold constraints from protein sequences using generalized topohydrophobicity.

Bioinform Biol Insights 2008 Jan 31;2:47-66. Epub 2008 Jan 31.

Département de Biologie Structurale, Institut de Minéralogie et de Physique des Milieux Condensés, CNRS UMR 7590 - Universités Paris 6/Paris 7, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735972PMC
http://dx.doi.org/10.4137/bbi.s426DOI Listing
January 2008

Phylogenetic analysis and identification of pseudogenes reveal a progressive loss of zona pellucida genes during evolution of vertebrates.

Biol Reprod 2008 May 28;78(5):796-806. Epub 2007 Nov 28.

Physiologie de la Reproduction et des Comportements, INRA-CNRS-Université de Tours-Haras Nationaux, IFR 135, 37380 Nouzilly, France.

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http://dx.doi.org/10.1095/biolreprod.107.064568DOI Listing
May 2008

Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

Genomics 2007 Nov 3;90(5):583-94. Epub 2007 Oct 3.

Physiologie de la Reproduction et des Comportements, UMR 6175 INRA-CNRS-Université F. Rabelais de Tours Haras Nationaux, 37380 Nouzilly, France.

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http://linkinghub.elsevier.com/retrieve/pii/S088875430700145
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http://dx.doi.org/10.1016/j.ygeno.2007.06.003DOI Listing
November 2007

Isolated ZP-N domains constitute the N-terminal extensions of Zona Pellucida proteins.

Bioinformatics 2007 Aug 17;23(15):1871-4. Epub 2007 May 17.

Département de Biologie Structurale, IMPMC UMR 7590, Universités Pierre et Marie Curie-Paris6, Paris, France.

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http://dx.doi.org/10.1093/bioinformatics/btm265DOI Listing
August 2007