Delphine Borgel

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Publications

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β4GALT1-CDG uncovers a novel mechanism of Von Willebrand factor deficiency through impaired glycosylation and accelerated

Claire Auditeau , Frédéric Adam , Arnaud Bruneel , François Fenaille , Christelle Repérant et al.

Hämostaseologie, 2026, GTH Congress 2026 – 70th Annual Meeting of the Society of Thrombosis and Haemostasis Research Bonn, Germany, 17.–20.02.2026, 46 (S01), pp.S73-S74. ⟨10.1055/s-0045-1814603⟩

Article dans une revue hal-05534728v1

An Inhibitory Single-Domain Antibody against Protein Z-Dependent Protease Inhibitor Promotes Thrombin Generation in Severe Hemophilia A and FXI Deficiency

Claire Auditeau , Tung-Son Nguyen , Floriane Devaux , François Saller , Ivan Peyron et al.

Thrombosis and Haemostasis, 2024, 125 (03), pp.207-217. ⟨10.1055/a-2373-2829⟩

Article dans une revue hal-05316627v1

The effects of time and temperature on the in vitro stability of emicizumab in blood samples: Implications for laboratory and clinical practices

Nûn Bentounes , Dominique Lasne , Capucine Habay , Cécile Bally , Laurent Frenzel et al.

Haemophilia, 2024, 30 (2), pp.554-557. ⟨10.1111/hae.14923⟩

Article dans une revue hal-04457427v1

Hemostatic defects in congenital disorders of glycosylation

Tiffany Pascreau , Claire Auditeau , Delphine Borgel

Research and Practice in Thrombosis and Haemostasis, 2023, 7 (3), pp.100142. ⟨10.1016/j.rpth.2023.100142⟩

Article dans une revue hal-04457429v1
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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

Camille Wicker , Charles-Joris Roux , Louise Goujon , Yvan de Feraudy , Marie Hully et al.

Molecular Genetics and Metabolism, 2023, 140 (3), pp.107674. ⟨10.1016/j.ymgme.2023.107674⟩

Article dans une revue hal-04457438v1

How can the design of therapeutic SERPINs be improved?

Elsa Bianchini , Claire Auditeau , Delphine Borgel

Journal of Thrombosis and Haemostasis, 2022, 20, pp.1037-1039. ⟨10.1111/jth.15667⟩

Article dans une revue inserm-04455201v1

Antithrombin supplementation for prevention of vascular thrombosis after pediatric liver transplantation

Maria Hukkinen , Michela Wong , Zeynep Demir , Radhia Hadj Salem , Dominique Debray et al.

Journal of Pediatric Surgery, 2022, 57 (11), pp.666-675. ⟨10.1016/j.jpedsurg.2022.06.008⟩

Article dans une revue hal-04457416v1
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Pathophysiological pathway differences in children who present with COVID-19 ARDS compared to COVID -19 induced MIS-C

Conor Mccafferty , Tengyi Cai , Delphine Borgel , Dominique Lasne , Sylvain Renolleau et al.

Nature Communications, 2022, 13 (1), pp.2391. ⟨10.1038/s41467-022-29951-9⟩

Article dans une revue hal-04457421v1
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The Proteolytic Inactivation of Protein Z-Dependent Protease Inhibitor by Neutrophil Elastase Might Promote the Procoagulant Activity of Neutrophil Extracellular Traps in Sepsis

Elsa P Bianchini , Mahita Razanakolona , Julie Helms , Fouzia Zouiti , Amélie Couteau-Chardon et al.

Thrombosis and Haemostasis, 2021, Online ahead of print. ⟨10.1055/a-1530-3980⟩

Article dans une revue inserm-03313257v1
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SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy

Alexandre Raynor , Walid Haouari , Bobby Ng , Sophie Cholet , Annie Harroche et al.

Clinica Chimica Acta, 2021, 521, pp.104-106. ⟨10.1016/j.cca.2021.07.005⟩

Article dans une revue hal-04455053v1
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Cyclic bridged analogs of isoCA-4: Design, synthesis and biological evaluation

Shannon Pecnard , Olivier Provot , Hélène Levaique , Jérome Bignon , Laurie Askenatzis et al.

European Journal of Medicinal Chemistry, 2021, 209, pp.112873. ⟨10.1016/j.ejmech.2020.112873⟩

Article dans une revue hal-03034493v1

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Bobby Ng , Paulina Sosicka , François Fenaille , Annie Harroche , Sandrine Vuillaumier-Barrot et al.

American Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩

Article dans une revue hal-03321294v1
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Reappearance of inhibitor in a tolerized patient with severe haemophilia A during FVIII‐free emicizumab therapy

Ladislas Capdevila , Delphine Borgel , Dominique Lasne , Sébastien Lacroix-Desmazes , Maximilien Desvages et al.

Haemophilia, 2021, 27 (4), pp.e581-e584. ⟨10.1111/hae.14334⟩

Article dans une revue hal-03431426v1

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

Raquel López-Gálvez , María Eugenia de la Morena-Barrio , Alberto López-Lera , Monika Pathak , Antonia Miñano et al.

Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.280. ⟨10.1186/s13023-020-01564-9⟩

Article dans une revue hal-04457414v1

Long term outcome of MPI‐CDG patients on D‐mannose therapy

Muriel Girard , Claire Douillard , Dominique Debray , Florence Lacaille , Manuel Schiff et al.

Journal of Inherited Metabolic Disease, 2020, 43 (6), pp.1360-1369. ⟨10.1002/jimd.12289⟩

Article dans une revue hal-03530176v1

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Anna Čechová , Ruqaiah Altassan , Delphine Borgel , Arnaud Bruneel , Joana Correia et al.

Journal of Inherited Metabolic Disease, 2020, 43 (4), pp.671-693. ⟨10.1002/jimd.12241⟩

Article dans une revue hal-04457411v1

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Pauline Bataille , Vincent Michaud , Matthieu P Robert , Lilia Bekel , Stéphanie Leclerc-Mercier et al.

Clinical Genetics, 2020, 97 (3), pp.527-528. ⟨10.1111/cge.13655⟩

Article dans une revue hal-03878371v1
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Measuring beta‐galactose exposure on platelets: Standardization and healthy reference values

Dominique Lasne , Tiffany Pascreau , Sadyo Darame , Marie‐charlotte Bourrienne , Peggy Tournoux et al.

Research and Practice in Thrombosis and Haemostasis, 2020, 4 (5), pp.813-822. ⟨10.1002/rth2.12369⟩

Article dans une revue hal-02964593v1
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NAADP/SERCA3-dependent Ca2+ stores pathway specifically controls early autocrine ADP secretion potentiating platelet activation.

Miao Feng , Ziane Elaïb , Delphine Borgel , Cécile Denis , Frédéric Adam et al.

Circulation Research, 2020, 127 (7), pp.e166-e183. ⟨10.1161/CIRCRESAHA.119.316090⟩

Article dans une revue inserm-02948394v1
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Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence

Annabelle Dupont , Christelle Soukaseum , Mathilde Cheptou , Frédéric Adam , Thomas Nipoti et al.

Haematologica, 2019, HITH, pp.haematol.2018.206250. ⟨10.3324/haematol.2018.206250⟩

Article dans une revue hal-02347340v1
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Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report

Charles Vidal , Florence Moulin , Xavier Nassif , Louise Galmiche , Delphine Borgel et al.

BMC Infectious Diseases, 2019, 19 (1), pp.302. ⟨10.1186/s12879-019-3933-3⟩

Article dans une revue inserm-02285428v1

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Ruqaiah Altassan , Romain Péanne , Jaak Jaeken , Rita Barone , Muad Bidet et al.

Journal of Inherited Metabolic Disease, 2019, 42 (1), pp.5-28. ⟨10.1002/jimd.12024⟩

Article dans une revue hal-04457400v1

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Peter Witters , Tomas Honzik , Eric Bauchart , Ruqaiah Altassan , Tiffany Pascreau et al.

Genetics in Medicine, 2019, 21 (5), pp.1181-1188. ⟨10.1038/s41436-018-0301-4⟩

Article dans une revue hal-04457407v1
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Inflammation in deep vein thrombosis: a therapeutic target?

Delphine Borgel , Elsa Bianchini , Dominique Lasne , Tiffany Pascreau , François Saller

Hematology, 2019, 24 (1), pp.742-750. ⟨10.1080/16078454.2019.1687144⟩

Article dans une revue (article de synthèse) inserm-04455174v1
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An ADAM-10 dependent EPCR shedding links meningococcal interaction with endothelial cells to purpura fulminans

Hervé Lécuyer , Zoé Virion , Jean-Philippe Barnier , Soraya Matczak , Sandrine Bourdoulous et al.

PLoS Pathogens, 2018, 14 (4), pp.e1006981. ⟨10.1371/journal.ppat.1006981⟩

Article dans une revue inserm-02174542v1

Design and Synthesis of Tubulin and Histone Deacetylase Inhibitor Based on iso -Combretastatin A-4

Diana Lamaa , Hsin-Ping Lin , Lena Zig , Cyril Bauvais , Guillaume Bollot et al.

Journal of Medicinal Chemistry, 2018, 61 (15), pp.6574-6591. ⟨10.1021/acs.jmedchem.8b00050⟩

Article dans une revue hal-02309817v1

A fluorine scan of a tubulin polymerization inhibitor isocombretastatin A-4: Design, synthesis, molecular modelling, and biological evaluation

Timothée Naret , Jérôme Bignon , Guillaume Bernadat , Mohamed Benchekroun , Helene Levaique et al.

European Journal of Medicinal Chemistry, 2018, 143, pp.473-490. ⟨10.1016/j.ejmech.2017.11.055⟩

Article dans une revue hal-02105508v1

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability

Frédéric Adam , Alexandre Kauskot , Mathieu Kurowska , Nicolas Goudin , Isabelle Munoz et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2018, 38 (5), pp.1037-1051. ⟨10.1161/ATVBAHA.117.310373⟩

Article dans une revue inserm-02440288v1
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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Athanasia Stoupa , Frédéric Adam , Dulanjalee Kariyawasam , Catherine Strassel , Sanjay Gawade et al.

EMBO Molecular Medicine, 2018, ⟨10.15252/emmm.201809569⟩

Article dans une revue hal-02375086v1

Endothelial cell surface limits coagulation without modulating the antithrombin potency

Béatrice Catieau , Véronique Devos , Sami Chtourou , Delphine Borgel , Jean-Luc Plantier

Thrombosis Research, 2018, 167, pp.88-95. ⟨10.1016/j.thromres.2018.05.019⟩

Article dans une revue hal-04457391v1
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Inactivated antithombin as anticoagulant reversal in a rat model of cardiopulmonary bypass: a potent and potentially safer alternative to protamine

Elsa Bianchini , Alexandre Sebestyen , Toufik Abache , Yasmine Bourti , Alexandre Fontayne et al.

British Journal of Haematology, 2018, 180 (5), pp.715-720. ⟨10.1111/bjh.15091⟩

Article dans une revue inserm-02296615v1

Complex formation with pentraxin-2 regulates factor X plasma levels and macrophage interactions

Vincent Muczynski , Gabriel Ayme , Véronique Regnault , Marc Vasse , Delphine Borgel et al.

Blood, 2017, 129 (17), pp.2443-2454. ⟨10.1182/blood-2016-06-724351⟩

Article dans une revue pasteur-03209468v1

Complex formation with pentraxin-2 regulates factor X plasma levels and macrophage interactions

Vincent Muczynski , Gabriel Aymé , Véronique Regnault , Marc Vasse , Delphine Borgel et al.

Blood, 2017, 129 (17), pp.2443-2454. ⟨10.1182/blood-2016-06-724351⟩

Article dans une revue hal-03567147v1

Pathogenesis of meningococcal purpura fulminans

Hervé Lécuyer , Delphine Borgel , Xavier Nassif , Mathieu Coureuil

Pathogens and Disease, 2017, ⟨10.1093/femspd/ftx027⟩

Article dans une revue hal-03552926v1

Targeting VEGFR1 on endothelial progenitors modulates their differentiation potential

Clément D’audigier , Benoit Gautier , Alexis Yon , Jean-Meidi Alili , Coralie L. Guérin et al.

Angiogenesis, 2014, 17 (3), p. 603-616. ⟨10.1007/s10456-013-9413-2⟩

Article dans une revue hal-01300965v1
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A novel β1-tubulin mutation associated with secretion-dependent platelet hyperactivity and prothrombotic risk via GPVI and CLEC-2 engagement

Toscane Viellard , Jean Solarz , Christelle Repérant , Christelle Soukaseum , Johannes A Eble et al.

7th EUPLAN International Conference, Sep 2025, Wuerzburg, Germany

Communication dans un congrès inserm-05293799v1

Une nouvelle mutation de la tubuline β1 associée à un profil prothrombotique dépendant de l’axe GPVI et de la sécrétion

Toscane Viellard , Christelle Repérant , Jean Solarz , Jean-Claude Bordet , Cécile Denis et al.

Congrès de la Société Française d'Hématologie, Apr 2025, Paris, France

Communication dans un congrès hal-05151565v1

Mise en évidence dans un modèle murin d’un risque prothrombotique associé à une mutation de la tubuline β1

Toscane Viellard , Christelle Repérant , Jean Solarz , Jean-Claude Bordet , Cécile Denis et al.

Congrès Français d'Hémostase, Société Française de Thrombose et d'Hémostase, Sep 2024, Lille, France

Communication dans un congrès hal-04701038v1

Fitusiran-treatment modulates the ratio between alpha- and beta-antithrombin isoforms

Geneviève Mccluskey , Hortense Maynadié , Caterina Casari , Delphine Borgel , Laurent Frenzel et al.

Congrès Français d'Hémostase, Société Française de Thrombose et d'Hémostase, Sep 2024, Lille, France

Communication dans un congrès hal-04701035v1

Mise en évidence dans un modèle murin d’un risque prothrombotique associé à une mutation de la tubuline β1

Toscane Viellard , Christelle Repérant , Jean Solarz , Jean-Claude Bordet , Cécile Denis et al.

Congrès Français d'Hémostase (CFH) 2024, Sep 2024, Lille, France

Communication dans un congrès hal-05151543v1

Une nouvelle mutation de la tubuline β1 associée à un profil prothrombotique dépendant de l’axe GPVI et de la sécrétion

Toscane Viellard , Christelle Repérant , Jean Solarz , Jean-Claude Bordet , Cécile Denis et al.

Club Français des Plaquettes et des Mégacaryocytes (CFPM), Oct 2024, Saint Etienne, France

Communication dans un congrès hal-05151561v1

A single-domain antibody enhancing protein S activity reduces vaso-occlusion in two murine models of sickle cell disease

Claire Auditeau , Thiago Maciel , Josepha Sedzro , Camille Roussel , Aurélie Fricot-Monsinjon et al.

European Congress on Thrombosis and Haemostasis, Sep 2023, Valence (Espagne), Spain

Communication dans un congrès hal-04501174v1

Llama-derived single-domain antibodies blocking tissue factor pathway inhibitor and increasing thrombin generation in FVIII- and FX-deficient plasma

Francois Saller , Ivan Peyron , Andrea Ruty , Saenjamsai P , Claire Auditeau et al.

European Congress on Thrombosis and Haemostasis, Sep 2023, Valence (Espagne), Spain

Communication dans un congrès hal-04501177v1

Antithrombotic Potential of a Single-domain Antibody Enhancing the Anticoagulant Activity of Protein S

Josepha Sedzro , Frédéric Adam , Allan De Carvalho , Elsa P Bianchini , Ivan Peyron et al.

Hybrid Congress of the International Society on Thrombosis and Haemostasis, International Society on Thrombosis and Haemostasis, Jul 2021, Philadelphia (Pennsylvania), United States. pp.Abstract OC 60.2

Communication dans un congrès hal-04501112v1

L’activation des canaux TRPV4 induit la transition des cellules endothéliales veineuses ou artérielles vers un phénotype pro-inflammatoire.

Kathia Beddek , Florent Raffin , Francois Saller , Delphine Borgel , Diane Riccobono et al.

40eme congres de la SFH, Sep 2020, Paris, France

Communication dans un congrès hal-04455362v1

Long-Term Follow-Up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome

Alessandra Magnani , Frédéric Adam , Michaela Semeraro , Loïc Dupré , Aurélie Gabrion et al.

ASGCT 23rd Annual Meeting, May 2020, Boston (MA), United States. pp.Abstract 111

Communication dans un congrès hal-04455733v1

La diminution de l’activité des pompes à calcium SERCA3 permet la réduction de la réponse inflammatoire.

Kathia Beddek , Frédéric Adam , Francois Saller , Delphine Borgel , Regis Bobe

40eme congres de la SFH 2020, Sep 2020, Paris, France

Communication dans un congrès hal-04455333v1

Caractérisation d’une nanobody qui potentialize l’activité cofacteur de la protéine C active de la protéine S

Sedzro Jc , Francois Saller , Frédéric Adam , De Carvalho , Sophie Gandrille et al.

40ème congrès de la Société Française d’Hématologie, Société Française d’Hématologie, Sep 2020, Paris, France. pp.Page 39, Abstract 04-01

Communication dans un congrès hal-04501074v1
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A novel β1-tubulin mutation associated with a secretion-dependent platelet hyperactivity and prothrombotic risk

Toscane Viellard , Jean Solarz , Christelle Repérant , Christelle Soukaseum , Cécile Denis et al.

ECTH 2025 Prague, Oct 2025, Prague (CZ), Czech Republic

Poster de conférence hal-05351155v1

MAGT1 DEFICIENCY CAUSES A PROMINENT PLATELETS DYSFUNCTION THROUGH IMPAIRMENT OF MEMBRANE GLYCOPROTEINS N-GLYCOSYLATION

Alexandre Kauskot , Coralie Mallebranche , Jean Solarz , Miao Feng , Toscane Viellard et al.

20th Biennial Meeting of the European Society for Immunodeficiencies (ESID), Oct 2022, Gothenburg, Sweden. Abstract 801

Poster de conférence hal-04455514v1

Ca2+ release from Sarco/Endoplamic Reticulum Ca2+-ATPase 3 (SERCA3) controlled stores is involved in endothelial permeability and inflammatory response.

Kathia Beddek , Frédéric Adam , Francois Saller , Delphine Borgel , Regis Bobe

ISTH 2020, Jul 2020, Virtual conference, France

Poster de conférence hal-04455301v1

NAADP/SERCA3-dependent Ca2+ stores pathway specifically controls early autocrine ADP secretion potentiating platelet activation.

Miao Feng , Ziane Elaib , Delphine Borgel , Cécile V. Denis , Frédéric Adam et al.

ISTH 2020, Jul 2020, Virtual congress, France

Poster de conférence hal-04455286v1

Standardization of a Flow Cytometry Platelet Sialylation Assay, and reference Values forBeta-Galactose Exposure in Healthy Subjects

Dominique Lasne , Tiffany Pascreau , Sadyo Darame , Marie-Charlotte Bourrienne , Aurélien Philippe et al.

ISTH, 2020, Jul 2020, Milan (Italie), Italy. PB0441

Poster de conférence hal-04454870v1

Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease

Annabelle Dupont , Christelle Soukaseum , Mathilde Cheptou , Frédéric Adam , Thomas Nipoti et al.

GRC, Cell biology of megakaryocytes and platelets, 2019, Mar 2019, Galveston - Texas, United States

Poster de conférence hal-04455289v1