Literature DB >> 30846498

Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.

Jae Won Yun1, Ki-O Lee2, Chul Won Jung3, Soo-Young Oh4, Sun-Hee Kim1, Chul Won Choi5, Hee-Jin Kim6.   

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Year:  2019        PMID： 30846498      PMCID： PMC6545837          DOI： 10.3324/haematol.2019.218487

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Evaluation of the gene encoding calcium and diacylglycerol regulated guanine nucleotide exchange factor I (CalDAG-GEFI) in human patients with congenital qualitative platelet disorders.

Authors:  John Puetz; Mary K Boudreaux
Journal:  Platelets       Date:  2011-08-05       Impact factor: 3.862

2.  Peripartum bleeding management in a patient with CalDAG-GEFI deficiency.

Authors:  M Canault; P Saultier; S Fauré; M Poggi; A T Nurden; P Nurden; P E Morange; M-C Alessi; J-C Gris
Journal:  Haemophilia       Date:  2017-10-04       Impact factor: 4.287

Review 3.  Inherited disorders of platelet function: selected updates.

Authors:  A T Nurden; P Nurden
Journal:  J Thromb Haemost       Date:  2015-06       Impact factor: 5.824

4.  Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).

Authors:  Emilse Bermejo; Maria F Alberto; David S Paul; Aaron A Cook; Paquita Nurden; Analia Sanchez Luceros; Alan T Nurden; Wolfgang Bergmeier
Journal:  Platelets       Date:  2017-07-20       Impact factor: 3.862

5.  Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation.

Authors:  Hisashi Kato; Yozo Nakazawa; Yumi Kurokawa; Hirokazu Kashiwagi; Yoichiro Morikawa; Daisuke Morita; Fumiaki Banno; Shigenori Honda; Yuzuru Kanakura; Yoshiaki Tomiyama
Journal:  Blood       Date:  2016-09-23       Impact factor: 22.113

6.  Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Authors:  Edward J Romasko; Batsal Devkota; Sawona Biswas; Vijayakumar Jayaraman; Ramakrishnan Rajagopalan; Matthew C Dulik; Christopher S Thom; Jiwon Choi; Sowmya Jairam; Maria I Scarano; Ian D Krantz; Nancy B Spinner; Laura K Conlin; Michele P Lambert
Journal:  Am J Hematol       Date:  2017-10-20       Impact factor: 10.047

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

Authors:  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
Journal:  Blood       Date:  2016-04-15       Impact factor: 25.476

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Authors:  José M Bastida; María L Lozano; Rocío Benito; Kamila Janusz; Verónica Palma-Barqueros; Mónica Del Rey; Jesús M Hernández-Sánchez; Susana Riesco; Nuria Bermejo; Hermenegildo González-García; Agustín Rodriguez-Alén; Carlos Aguilar; Teresa Sevivas; María F López-Fernández; Anna E Marneth; Bert A van der Reijden; Neil V Morgan; Steve P Watson; Vicente Vicente; Jesús M Hernández-Rivas; José Rivera; José R González-Porras
Journal:  Haematologica       Date:  2017-10-05       Impact factor: 9.941

10.  Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.

Authors:  Teresa Sevivas; José María Bastida; David S Paul; Eva Caparros; Verónica Palma-Barqueros; Margarida Coucelo; Dalila Marques; Francisca Ferrer-Marín; José Ramón González-Porras; Vicente Vicente; Jesús María Hernández-Rivas; Steve P Watson; María Luisa Lozano; Wolfgang Bergmeier; José Rivera
Journal:  Platelets       Date:  2017-08-01       Impact factor: 3.862
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  3 in total

Review 1.  Platelet transfusion for patients with platelet dysfunction: effectiveness, mechanisms, and unanswered questions.

Authors:  Robert H Lee; Raj S Kasthuri; Wolfgang Bergmeier
Journal:  Curr Opin Hematol       Date:  2020-11       Impact factor: 3.218

Review 2.  RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Authors:  Matthias Canault; Marie-Christine Alessi
Journal:  Int J Mol Sci       Date:  2020-02-06       Impact factor: 5.923

3.  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).

Authors:  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
Journal:  Genes (Basel)       Date:  2021-05-06       Impact factor: 4.096
  3 in total

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