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Journal Articles

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres, Laxmikanth Kollipara, Frances S. Burden, Daniel Greene, Dave Lee, Antonio Rodriguez-Romera, Marie-Christine Alessi, William J. Astle, Wadie F. Bahou, Loredana Bury, Elizabeth Chalmers, Rachael Da Silva, Erica De Candia, Sri V. V. Deevi, Samantha Farrow, Keith Gomez, Luigi Grassi, Andreas Greinacher, Paolo Gresele, Dan Hart, Marie-Françoise Hurtaud, Anne M. Kelly, Ron Kerr, Sandra Le Quellec, Thierry Leblanc, Eva B. Leinøe, Rutendo Mapeta, Harriet McKinney, Alan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. Park, John Pasi, Gian Marco Podda, Man-Chiu Poon, Rachel Reed, Mallika Sekhar, Hanna Shalev, Suthesh Sivapalaratnam, Orna Steinberg-Shemer, Jonathan C. Stephens, Robert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, NIHR BioResource, Taco W. Kuijpers, Anthony D. Whetton, Albert Sickmann, Kathleen Freson, Kate Downes, Wendy N. Erber, Mattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier, Jose A. Guerrero

Blood (2020) 136 (17): 1956–1967.

https://doi.org/10.1182/blood.2019004776

Published: 2020

Includes: Supplemental data

Journal Articles

Platelet glycoprotein VI promotes metastasis through interaction with cancer cell–derived galectin-3

Elmina Mammadova-Bach, Jesus Gil-Pulido, Edita Sarukhanyan, Philipp Burkard, Sergey Shityakov, Charlotte Schonhart, David Stegner, Katharina Remer, Paquita Nurden, Alan T. Nurden, Thomas Dandekar, Laszlo Nehez, Magdolna Dank, Attila Braun, Diego Mezzano, Scott I. Abrams, Bernhard Nieswandt

Blood (2020) 135 (14): 1146–1160.

https://doi.org/10.1182/blood.2019002649

Published: 2020

Includes: Supplemental data

Journal Articles

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Blood (2018) 132 (19): 2067–2077.

https://doi.org/10.1182/blood-2018-04-845644

Published: 2018

Includes: Supplemental data

Journal Articles

ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia

Markus Spindler, Judith M. M. van Eeuwijk, Yvonne Schurr, Paquita Nurden, Bernhard Nieswandt, David Stegner, Annegret Reinhold, Markus Bender

Blood (2018) 132 (6): 635–646.

https://doi.org/10.1182/blood-2018-01-829259

Published: 2018

Includes: Multimedia, Supplemental data

Journal Articles

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood (2018) 131 (9): 1000–1011.

https://doi.org/10.1182/blood-2017-08-800359

Published: 2018

Includes: Supplemental data

Journal Articles

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Blood (2017) 130 (8): 1026–1030.

https://doi.org/10.1182/blood-2017-03-776773

Published: 2017

Includes: Supplemental data

Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Blood (2017) 129 (4): 520–524.

https://doi.org/10.1182/blood-2016-08-732248

Published: 2017

Includes: Supplemental data

Journal Articles

Phenotype Analysis and Clinical Management in a Large Family with a Novel Truncating Mutation in RASGRP2 , the Caldag-GEFI Encoding Gene

Amrita Desai, MD MPH, Wenche Jy, PhD, Wolfgang Bergmeier, PhD, Mathias Canault, PhD, Marie-Christine Alessi, MD PhD, Paquita Nurden, MD PhD, Yeon-Soong Ahn, MD, Alan T. Nurden, PhD

Blood (2016) 128 (22): 3713.

https://doi.org/10.1182/blood.V128.22.3713.3713

Published: 2016

Journal Articles

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood (2016) 127 (23): 2903–2914.

https://doi.org/10.1182/blood-2015-10-675629

Published: 2016

Includes: Supplemental data

Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

Journal Articles

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

Simon Stritt, Markus Bender, Paquita Nurden, MD PhD, Judith van Eeuwijk, Barbara Zieger, Prof, Karim Kentouche, MD, Harald Schulze, Prof, Henner Morbach, MD, David Stegner, PhD, Katrin G Heinze, PhD, Sebastian Dütting, PhD, Shuchi Gupta, PhD, Walter Witke, Prof, Hervé Falet, PhD, Alain Fischer, Prof, John H. Hartwig, Prof, Bernhard Nieswandt, Prof

Blood (2014) 124 (21): 4200.

https://doi.org/10.1182/blood.V124.21.4200.4200

Published: 2014

Journal Articles

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

Paquita Nurden, MD PhD, Ernest Turro, PhD, Xavier Pillois, PhD, Daniel Greene, PhD, Willem Ouwehand, MD PhD, Alan Nurden, PhD

Blood (2014) 124 (21): 1454.

https://doi.org/10.1182/blood.V124.21.1454.1454

Published: 2014

Journal Articles

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

Jose A. Guerrero, Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre, Emma L. Cambridge, Jeanne Estabel, Hannah Wardle-Jones, Anneliese O. Speak, Wendy N. Erber, Augusto Rendon, Willem H. Ouwehand, Cedric Ghevaert

Blood (2014) 124 (24): 3624–3635.

https://doi.org/10.1182/blood-2014-04-566760

Published: 2014

Includes: Supplemental data

Journal Articles

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression

Dominique Bluteau, Ana C. Glembotsky, Anna Raimbault, Nathalie Balayn, Laure Gilles, Philippe Rameau, Paquita Nurden, Marie Christine Alessi, Najet Debili, William Vainchenker, Paula G. Heller, Remi Favier, Hana Raslova

Blood (2012) 120 (13): 2708–2718.

https://doi.org/10.1182/blood-2012-04-422337

Published: 2012

Includes: Supplemental data

Journal Articles

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

Alan T. Nurden, Mathieu Fiore, Paquita Nurden, Xavier Pillois

Blood (2011) 118 (23): 5996–6005.

https://doi.org/10.1182/blood-2011-07-365635

Published: 2011

Includes: Supplemental data

Journal Articles

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Blood (2011) 118 (22): 5928–5937.

https://doi.org/10.1182/blood-2011-07-365601

Published: 2011

Includes: Supplemental data

Journal Articles

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

Paquita Nurden, MD, PhD, Marijke Bryckaert, PhD, Eliane Berrou, PhD, Frédéric Adam, PhD, Jean-Marie Daniel Lamazière, PhD, Anne-Cécile Pons, PhD, Cyril Goizet, MD, PhD, William Vainchenker, MD, PhD, Alan T. Nurden, PhD, Najet Debili, PhD

Blood (2011) 118 (21): 1152.

https://doi.org/10.1182/blood.V118.21.1152.1152

Published: 2011

Journal Articles

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

Béatrice Saposnik, PhD, Sylvie Binard, Alan T. Nurden, PhD, Paquita Nurden, MD, PhD, Nicole Schlegel, MD, PhD

Blood (2011) 118 (21): 1155.

https://doi.org/10.1182/blood.V118.21.1155.1155

Published: 2011

Journal Articles

Abnormal Proplatelet Formation and Myosin Activation Status in Patients with MYH9-Related Syndrome

Yolande Chen, MD, Siham Boukour, PhD, Paquita Nurden, MD, PhD, Ababacar Seye, Olivier Bluteau, PhD, Alberta Palazzo, Yunhua Chang, PhD, Larissa Lordier, PhD, Remi Favier, MD, Nicole Schlegel, MD, PhD, Anne Galy, PharmD, PhD, Alan T. Nurden, PhD, Hana Raslova, PhD, William Vainchenker, MD, PhD, Najet Debili, PhD

Blood (2011) 118 (21): 4826.

https://doi.org/10.1182/blood.V118.21.4826.4826

Published: 2011

Journal Articles

De Novo Synthesis & Storage of Human Factor VIII In Platelets Reduces Bleeding In Canine Hemophilia A

Lily M. Du, MD, Helen W.G. Franck, BS, Elizabeth P. Merricks, PhD, Paquita Nurden, MD, Eric S. Jensen, DVM, Sandra L. Haberichter, PhD, Troy B. Hawkins, PhD, Paula M. Jacobi, BS, Juan Fang, MD, Timothy C. Nichols, MD, Sevasti B. Koukouritaki, PhD, Qizhen Shi, MD, PhD, Robert R. Montgomery, MD, Kenneth Cornetta, MD, Alan T. Nurden, PhD, David A. Wilcox, PhD

Blood (2010) 116 (21): 2198.

https://doi.org/10.1182/blood.V116.21.2198.2198

Published: 2010

NARROW

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Platelet glycoprotein VI promotes metastasis through interaction with cancer cell–derived galectin-3

A mutation of the human EPHB2 gene leads to a major platelet functional defect

ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Phenotype Analysis and Clinical Management in a Large Family with a Novel Truncating Mutation in RASGRP2 , the Caldag-GEFI Encoding Gene

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

Abnormal Proplatelet Formation and Myosin Activation Status in Patients with MYH9-Related Syndrome

De Novo Synthesis & Storage of Human Factor VIII In Platelets Reduces Bleeding In Canine Hemophilia A

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American Society of Hematology

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