PMC Articles for MedGen (Select 863021) - PMC

Select item 81481531.

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)

Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee, Young Bae Choi, Jeong Ok Hah, Jae Min Lee, Jung Woo Han, Jae Hee Lee, Young-Ho Lee, Hye Lim Jung, Jung-Sook Ha, Chang-Seok Ki, on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group (KPHOG)

Genes (Basel) 2021 May; 12(5): 693. Published online 2021 May 6. doi: 10.3390/genes12050693

PMCID:: PMC8148153

Abstract Article PDF–233K

Select item 70376022.

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

Matthias Canault, Marie-Christine Alessi

Int J Mol Sci. 2020 Feb; 21(3): 1075. Published online 2020 Feb 6. doi: 10.3390/ijms21031075

PMCID:: PMC7037602

Abstract Article PDF–1.4M

Select item 100916553.

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov, Mikhail Panteleev

Orphanet J Rare Dis. 2023; 18: 74. Published online 2023 Apr 11. doi: 10.1186/s13023-023-02675-9

PMCID:: PMC10091655

Abstract Article PDF–2.8M

Select item 50095154.

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

María Luisa Lozano, Aaron Cook, José María Bastida, David S. Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J. Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P. Watson, Wolfgang Bergmeier, José Rivera

Blood. 2016 Sep 1; 128(9): 1282–1289. Prepublished online 2016 May 27. doi: 10.1182/blood-2015-11-683102

PMCID:: PMC5009515

Abstract Article

Select item 40765915.

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

Matthias Canault, Dorsaf Ghalloussi, Charlotte Grosdidier, Marie Guinier, Claire Perret, Nadjim Chelghoum, Marine Germain, Hana Raslova, Franck Peiretti, Pierre E. Morange, Noemie Saut, Xavier Pillois, Alan T. Nurden, François Cambien, Anne Pierres, Timo K. van den Berg, Taco W. Kuijpers, Marie-Christine Alessi, David-Alexandre Tregouet

J Exp Med. 2014 Jun 30; 211(7): 1349–1362. doi: 10.1084/jem.20130477

PMCID:: PMC4076591

Abstract Article PDF–3.1M

Select item 31481616.

CalDAG-GEFI deficiency protects mice in a novel model of FcγRIIA-mediated thrombosis and thrombocytopenia

Moritz Stolla, Lucia Stefanini, Pierrette André, Timothy D. Ouellette, Michael P. Reilly, Steven E. McKenzie, Wolfgang Bergmeier

Blood. 2011 Jul 28; 118(4): 1113–1120. Prepublished online 2011 Jun 7. doi: 10.1182/blood-2011-03-342352

PMCID:: PMC3148161

Abstract Article

Select item 18650267.

Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III

Wolfgang Bergmeier, Tobias Goerge, Hong-Wei Wang, Jill R. Crittenden, Andrew C.W. Baldwin, Stephen M. Cifuni, David E. Housman, Ann M. Graybiel, Denisa D. Wagner

J Clin Invest. 2007 Jun 1; 117(6): 1699–1707. Published online 2007 May 10. doi: 10.1172/JCI30575

PMCID:: PMC1865026

Abstract Article PDF–844K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity