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  1. Article ; Online: RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

    Matthias Canault / Marie-Christine Alessi

    International Journal of Molecular Sciences, Vol 21, Iss 3, p

    2020  Volume 1075

    Abstract: RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in “inside-out” αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by ... ...

    Abstract RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in “inside-out” αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by variants of RASGRP2 represents a new congenital bleeding disorder referred to as platelet-type bleeding disorder-18 (BDPLT18). We review here the structure of RasGRP2 and its functions in the pathophysiology of platelets and of the other cellular types that express it. We will also examine the different pathogenic variants reported so far as well as strategies for the diagnosis and management of patients with BDPLT18.
    Keywords platelet ; rasgrp2 ; inherited platelet disorder ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Language English
    Publishing date 2020-02-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

    Canault, Matthias / Alessi, Marie-Christine

    International journal of molecular sciences

    2020  Volume 21, Issue 3

    Abstract: RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in "inside-out" αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by ... ...

    Abstract RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in "inside-out" αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by variants of RASGRP2 represents a new congenital bleeding disorder referred to as platelet-type bleeding disorder-18 (BDPLT18). We review here the structure of RasGRP2 and its functions in the pathophysiology of platelets and of the other cellular types that express it. We will also examine the different pathogenic variants reported so far as well as strategies for the diagnosis and management of patients with BDPLT18.
    MeSH term(s) Blood Platelet Disorders/congenital ; Blood Platelet Disorders/genetics ; Blood Platelets/pathology ; Child, Preschool ; Female ; Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/metabolism ; Hemorrhage/congenital ; Hemorrhage/genetics ; Humans ; Infant ; Male ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Shelterin Complex ; Signal Transduction/genetics ; Telomere-Binding Proteins/metabolism
    Chemical Substances Guanine Nucleotide Exchange Factors ; Platelet Glycoprotein GPIIb-IIIa Complex ; RASGRP2 protein, human ; Shelterin Complex ; TERF2IP protein, human ; Telomere-Binding Proteins
    Language English
    Publishing date 2020-02-06
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms21031075
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  3. Article: Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.

    Alessi, Marie-Christine / Sié, Pierre / Payrastre, Bernard

    Journal of clinical medicine

    2020  Volume 9, Issue 3

    Abstract: Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission ... ...

    Abstract Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission aggregometry (LTA) traces. Interpretation of LTA is challenging. LTA is usually performed in specialized laboratories with expertise in platelet pathophysiology. This review updates knowledge on LTA, describing the various platelet aggregation profiles typical of hereditary platelet disorders to guide the physician in the diagnosis of functional platelet disorders.
    Language English
    Publishing date 2020-03-12
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm9030763
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  4. Article ; Online: Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction.

    Fiore, Mathieu / Castet, Sabine-Marie / Bordet, Jean-Claude / Naudion, Sophie / Alessi, Marie-Christine

    Journal of thrombosis and thrombolysis

    2021  Volume 53, Issue 2, Page(s) 557–560

    MeSH term(s) Delayed Diagnosis ; Hemorrhage ; Humans ; Mutation ; Noonan Syndrome/complications ; Noonan Syndrome/diagnosis
    Language English
    Publishing date 2021-08-08
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 1230645-9
    ISSN 1573-742X ; 0929-5305
    ISSN (online) 1573-742X
    ISSN 0929-5305
    DOI 10.1007/s11239-021-02547-8
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  5. Article ; Online: Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders

    Marie-Christine Alessi / Pierre Sié / Bernard Payrastre

    Journal of Clinical Medicine, Vol 9, Iss 3, p

    2020  Volume 763

    Abstract: Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission ... ...

    Abstract Hereditary defects in platelet function are responsible for sometimes severe mucocutaneous hemorrhages. They are a heterogeneous group of abnormalities whose first-line diagnosis typically involves interpreting the results of in vitro light transmission aggregometry (LTA) traces. Interpretation of LTA is challenging. LTA is usually performed in specialized laboratories with expertise in platelet pathophysiology. This review updates knowledge on LTA, describing the various platelet aggregation profiles typical of hereditary platelet disorders to guide the physician in the diagnosis of functional platelet disorders.
    Keywords platelets ; light transmission aggregometry ; inherited platelet disorders ; diagnosis ; Medicine ; R
    Language English
    Publishing date 2020-03-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction.

    Ibrahim-Kosta, Manal / Alessi, Marie-Christine / Hezard, Nathalie

    Hamostaseologie

    2020  Volume 40, Issue 4, Page(s) 444–459

    Abstract: Platelets play a major role in primary hemostasis, where activated platelets form plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of the platelet activation process can cause a variety of platelet dysfunction conditions ... ...

    Abstract Platelets play a major role in primary hemostasis, where activated platelets form plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of the platelet activation process can cause a variety of platelet dysfunction conditions associated with bleeding. To make an accurate diagnosis, constitutional platelet dysfunction (CPDF) should be considered once von Willebrand disease and drug intake are ruled out. CPDF may be associated with thrombocytopenia or a genetic syndrome. CPDF diagnosis is complex, as no single test enables the analysis of all aspects of platelet function. Furthermore, the available tests lack standardization, and repeat tests must be performed in specialized laboratories especially for mild and moderate forms of the disease. In this review, we provide an overview of the laboratory tests used to diagnose CPDF, with a focus on light transmission platelet aggregation (LTA), flow cytometry (FC), and granules assessment. Global tests, mainly represented by LTA, are often initially performed to investigate the consequences of platelet activation on platelet aggregation in a single step. Global test results should be confirmed by additional analytical tests. FC represents an accurate, simple, and reliable test to analyze abnormalities in platelet receptors, and granule content and release. This technique may also be used to investigate platelet function by comparing resting- and activated-state platelet populations. Assessment of granule content and release also requires additional specialized analytical tests. High-throughput sequencing has become increasingly useful to diagnose CPDF. Advanced tests or external research laboratory techniques may also be beneficial in some cases.
    MeSH term(s) Blood Platelet Disorders/diagnosis ; Flow Cytometry ; Humans ; Laboratories/standards ; Platelet Aggregation/physiology ; Platelet Function Tests/methods
    Language English
    Publishing date 2020-09-15
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 801512-0
    ISSN 2567-5761 ; 0720-9355
    ISSN (online) 2567-5761
    ISSN 0720-9355
    DOI 10.1055/a-1223-3306
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1631: Show issues Location:
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  7. Article ; Online: APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

    Stritt, Simon / Nurden, Paquita / Nurden, Alan T / Schved, Jean-François / Bordet, Jean-Claude / Roux, Maguelonne / Alessi, Marie-Christine / Trégouët, David-Alexandre / Mäkinen, Taija / Giansily-Blaizot, Muriel

    Haematologica

    2023  Volume 108, Issue 3, Page(s) 772–784

    Abstract: Vascular homeostasis is impaired in various diseases thereby contributing to the progression of their underlying pathologies. The endothelial immediate early gene Apolipoprotein L domain-containing 1 (APOLD1) helps to regulate endothelial function. ... ...

    Abstract Vascular homeostasis is impaired in various diseases thereby contributing to the progression of their underlying pathologies. The endothelial immediate early gene Apolipoprotein L domain-containing 1 (APOLD1) helps to regulate endothelial function. However, its precise role in endothelial cell biology remains unclear. We have localized APOLD1 to endothelial cell contacts and to Weibel-Palade bodies (WPB) where it associates with von Willebrand factor (VWF) tubules. Silencing of APOLD1 in primary human endothelial cells disrupted the cell junction-cytoskeletal interface, thereby altering endothelial permeability accompanied by spontaneous release of WPB contents. This resulted in an increased presence of WPB cargoes, notably VWF and angiopoietin-2 in the extracellular medium. Autophagy flux, previously recognized as an essential mechanism for the regulated release of WPB, was impaired in the absence of APOLD1. In addition, we report APOLD1 as a candidate gene for a novel inherited bleeding disorder across three generations of a large family in which an atypical bleeding diathesis was associated with episodic impaired microcirculation. A dominant heterozygous nonsense APOLD1:p.R49* variant segregated to affected family members. Compromised vascular integrity resulting from an excess of plasma angiopoietin-2, and locally impaired availability of VWF may explain the unusual clinical profile of APOLD1:p.R49* patients. In summary, our findings identify APOLD1 as an important regulator of vascular homeostasis and raise the need to consider testing of endothelial cell function in patients with inherited bleeding disorders without apparent platelet or coagulation defects.
    MeSH term(s) Humans ; Weibel-Palade Bodies ; von Willebrand Factor/genetics ; Endothelial Cells/physiology ; Angiopoietin-2/genetics ; Exocytosis/physiology ; Hemostasis ; Vascular Diseases ; Intercellular Junctions
    Chemical Substances von Willebrand Factor ; Angiopoietin-2
    Language English
    Publishing date 2023-03-01
    Publishing country Italy
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2022.280816
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  8. Article ; Online: Early Metabolic Disruption and Predictive Biomarkers of Delayed-Cerebral Ischemia in Aneurysmal Subarachnoid Hemorrhage.

    Chikh, Karim / Tonon, David / Triglia, Thibaut / Lagier, David / Buisson, Anouk / Alessi, Marie-Christine / Defoort, Catherine / Benatia, Sherazade / Velly, Lionel J / Bruder, Nicolas / Martin, Jean-Charles

    Journal of proteome research

    2023  Volume 23, Issue 1, Page(s) 316–328

    Abstract: Delayed cerebral ischemia (DCI) following aneurysmal subarachnoid hemorrhage (aSAH) is a major cause of complications and death. Here, we set out to identify high-performance predictive biomarkers of DCI and its underlying metabolic disruptions using ... ...

    Abstract Delayed cerebral ischemia (DCI) following aneurysmal subarachnoid hemorrhage (aSAH) is a major cause of complications and death. Here, we set out to identify high-performance predictive biomarkers of DCI and its underlying metabolic disruptions using metabolomics and lipidomics approaches. This single-center prospective observational study enrolled 61 consecutive patients with severe aSAH; among them, 22 experienced a DCI. Nine patients without aSAH were included as validation controls. Blood and cerebrospinal fluid (CSF) were sampled within the first 24 h after admission. We identified a panel of 20 metabolites that, together, showed high predictive performance for DCI. This panel of metabolites included lactate, cotinine, salicylate, 6 phosphatidylcholines, and 4 sphingomyelins. The interplay of the metabolome and the lipidome found between CSF and plasma in our patients underscores that aSAH and its associated DCI complications can extend beyond cerebral implications, with a peripheral dimension as well. As an illustration, early biological disruptions that might explain the subsequent DCI found systemic hypoxia driven mainly by higher blood lactate, arginine, and proline metabolism likely associated with vascular NO and disrupted ceramide/sphingolipid metabolism. We conclude that targeting early peripheral hypoxia preceding DCI could provide an interesting strategy for the prevention of vascular dysfunction.
    MeSH term(s) Humans ; Subarachnoid Hemorrhage/complications ; Brain Ischemia/etiology ; Biomarkers ; Lactic Acid ; Hypoxia
    Chemical Substances Biomarkers ; Lactic Acid (33X04XA5AT)
    Language English
    Publishing date 2023-12-26
    Publishing country United States
    Document type Observational Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2078618-9
    ISSN 1535-3907 ; 1535-3893
    ISSN (online) 1535-3907
    ISSN 1535-3893
    DOI 10.1021/acs.jproteome.3c00575
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    Zs.A 6189: Show issues Location:
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  9. Article: Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction

    Ibrahim-Kosta, Manal / Alessi, Marie-Christine / Hezard, Nathalie

    Hämostaseologie

    2020  Volume 40, Issue 04, Page(s) 444–459

    Abstract: Platelets play a major role in primary hemostasis, where activated platelets form plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of the platelet activation process can cause a variety of platelet dysfunction conditions ... ...

    Abstract Platelets play a major role in primary hemostasis, where activated platelets form plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of the platelet activation process can cause a variety of platelet dysfunction conditions associated with bleeding. To make an accurate diagnosis, constitutional platelet dysfunction (CPDF) should be considered once von Willebrand disease and drug intake are ruled out. CPDF may be associated with thrombocytopenia or a genetic syndrome. CPDF diagnosis is complex, as no single test enables the analysis of all aspects of platelet function. Furthermore, the available tests lack standardization, and repeat tests must be performed in specialized laboratories especially for mild and moderate forms of the disease. In this review, we provide an overview of the laboratory tests used to diagnose CPDF, with a focus on light transmission platelet aggregation (LTA), flow cytometry (FC), and granules assessment. Global tests, mainly represented by LTA, are often initially performed to investigate the consequences of platelet activation on platelet aggregation in a single step. Global test results should be confirmed by additional analytical tests. FC represents an accurate, simple, and reliable test to analyze abnormalities in platelet receptors, and granule content and release. This technique may also be used to investigate platelet function by comparing resting- and activated-state platelet populations. Assessment of granule content and release also requires additional specialized analytical tests. High-throughput sequencing has become increasingly useful to diagnose CPDF. Advanced tests or external research laboratory techniques may also be beneficial in some cases.
    Keywords constitutional platelet dysfunction ; diagnosis ; light transmission aggregometry ; granule deficiency ; flow cytometry
    Language English
    Publishing date 2020-09-15
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 801512-0
    ISSN 2567-5761 ; 0720-9355
    ISSN (online) 2567-5761
    ISSN 0720-9355
    DOI 10.1055/a-1223-3306
    Database Thieme publisher's database

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    In stock of ZB MED Cologne/Königswinter

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    Jg. 1995 - 2021: Lesesall (1.OG)
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  10. Article ; Online: Anti-α

    Fiore, Mathieu / d'Oiron, Roseline / Pillois, Xavier / Alessi, Marie-Christine

    British journal of haematology

    2018  Volume 181, Issue 2, Page(s) 173–182

    Abstract: Glanzmann thrombasthenia (GT) is caused by inherited defects of the ... ...

    Abstract Glanzmann thrombasthenia (GT) is caused by inherited defects of the α
    MeSH term(s) Autoantibodies/blood ; Autoantibodies/immunology ; Humans ; Immunization ; Platelet Glycoprotein GPIIb-IIIa Complex/immunology ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Platelet Transfusion/adverse effects ; Risk Factors ; Thrombasthenia/blood ; Thrombasthenia/immunology ; Thrombasthenia/therapy ; Transfusion Reaction
    Chemical Substances Autoantibodies ; Platelet Glycoprotein GPIIb-IIIa Complex
    Language English
    Publishing date 2018-04-02
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.15087
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