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Literature DB >> 30171045

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

Shoshana Revel-Vilk¹, Ela Shai², Ernest Turro^3,4,5, Nivin Jahshan², Esti Hi-Am², Galia Spectre^6,7, Hagit Daum⁸, Yossef Kalish², Karina Althaus⁹, Andreas Greinacher⁹, Chaim Kaplinsky^7,10, Shai Izraeli^7,11, Rutendo Mapeta^3,12, Sri V V Deevi^3,12, Danuta Jarocha¹³, Willem H Ouwehand^3,5,14, Kate Downes^3,5, Mortimer Poncz^13,15, David Varon², Michele P Lambert^13,15.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2018 PMID： 30171045 PMCID： PMC6202914 DOI： 10.1182/blood-2018-04-845545

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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17 in total

1. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.

Authors: O T Keppler; S Hinderlich; J Langner; R Schwartz-Albiez; W Reutter; M Pawlita
Journal: Science Date: 1999-05-21 Impact factor: 47.728

Review 2. Novel clearance mechanisms of platelets.

Authors: Renata Grozovsky; Karin M Hoffmeister; Hervé Falet
Journal: Curr Opin Hematol Date: 2010-11 Impact factor: 3.284

Review 3. Inclusion body myositis: current pathogenetic concepts and diagnostic and therapeutic approaches.

Authors: Merrilee Needham; Frank L Mastaglia
Journal: Lancet Neurol Date: 2007-07 Impact factor: 44.182

4. Sialic Acid: its importance to platelet function in health and disease.

Authors: M Crook
Journal: Platelets Date: 1991 Impact factor: 3.862

5. Studies on a patient with thrombocytopenia, giant platelets and a platelet membrane glycoprotein Ib with reduced amount of sialic acid.

Authors: A M Aakhus; P Stavem; T Hovig; T M Pedersen; N O Solum
Journal: Br J Haematol Date: 1990-03 Impact factor: 6.998

6. A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.

Authors: Changqing Zhen; Feng Guo; Xiaosheng Fang; Ying Liu; Xin Wang
Journal: Neurol Sci Date: 2014-04-16 Impact factor: 3.307

7. A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.

Authors: Claire Jones; Jonas Denecke; Ronald Sträter; Torsten Stölting; Yvonne Schunicht; Dagmar Zeuschner; Judith Klumperman; Dirk J Lefeber; Oliver Spelten; Alexander Zarbock; Sørge Kelm; Karen Strenge; Stuart M Haslam; Kerstin Lühn; Dorothea Stahl; Luca Gentile; Thomas Schreiter; Philip Hilgard; Annette G Beck-Sickinger; Thorsten Marquardt; Martin K Wild
Journal: Am J Pathol Date: 2011-08-22 Impact factor: 4.307

Review 8. Mutation update for GNE gene variants associated with GNE myopathy.

Authors: Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing
Journal: Hum Mutat Date: 2014-08 Impact factor: 4.878

9. Effects on platelet function of removal of platelet sialic acid by neuraminidase.

Authors: J Greenberg; M A Packham; J P Cazenave; H J Reimers; J F Mustard
Journal: Lab Invest Date: 1975-04 Impact factor: 5.662

10. Role of sialic acid for platelet life span: exposure of beta-galactose results in the rapid clearance of platelets from the circulation by asialoglycoprotein receptor-expressing liver macrophages and hepatocytes.

Authors: Anne Louise Sørensen; Viktoria Rumjantseva; Sara Nayeb-Hashemi; Henrik Clausen; John H Hartwig; Hans H Wandall; Karin M Hoffmeister
Journal: Blood Date: 2009-06-11 Impact factor: 22.113

18 in total

Review 1. Multifaceted role of glycosylation in transfusion medicine, platelets, and red blood cells.

Authors: Melissa M Lee-Sundlov; Sean R Stowell; Karin M Hoffmeister
Journal: J Thromb Haemost Date: 2020-05-28 Impact factor: 5.824

2. Severe and fatal toxicity after hematopoietic stem cell transplantation in GNE defect-associated thrombocytopenia.

Authors: Justyna Miśkiewicz-Bujna; Izabella Miśkiewicz-Migoń; Anna Panasiuk; Anna Kubica-Cielińska; Marzena Zielińska; Łukasz Waszczuk; Joanna Bladowska; Marcin Miś; Katarzyna Bąbol-Pokora; Wojciech Młynarski; Tomasz Ociepa; Krzysztof Kałwak; Ewa Gorczyńska; Marek Ussowicz
Journal: Bone Marrow Transplant Date: 2021-02-26 Impact factor: 5.483

3. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Authors: Kate Downes; Karyn Megy; Daniel Duarte; Minka Vries; Johanna Gebhart; Stefanie Hofer; Olga Shamardina; Sri V V Deevi; Jonathan Stephens; Rutendo Mapeta; Salih Tuna; Namir Al Hasso; Martin W Besser; Nichola Cooper; Louise Daugherty; Nick Gleadall; Daniel Greene; Matthias Haimel; Howard Martin; Sofia Papadia; Shoshana Revel-Vilk; Suthesh Sivapalaratnam; Emily Symington; Will Thomas; Chantal Thys; Alexander Tolios; Christopher J Penkett; Willem H Ouwehand; Stephen Abbs; Michael A Laffan; Ernest Turro; Ilenia Simeoni; Andrew D Mumford; Yvonne M C Henskens; Ingrid Pabinger; Keith Gomez; Kathleen Freson
Journal: Blood Date: 2019-12-05 Impact factor: 22.113

Review 4. Genetics of inherited thrombocytopenias.

Authors: Julia T Warren; Jorge Di Paola
Journal: Blood Date: 2022-06-02 Impact factor: 25.476

Review 5. Clinical impact of glycans in platelet and megakaryocyte biology.

Authors: Hervé Falet; Leonardo Rivadeneyra; Karin M Hoffmeister
Journal: Blood Date: 2022-06-02 Impact factor: 25.476

Review 6. Inherited Platelet Disorders: An Updated Overview.

Authors: Verónica Palma-Barqueros; Nuria Revilla; Ana Sánchez; Ana Zamora Cánovas; Agustín Rodriguez-Alén; Ana Marín-Quílez; José Ramón González-Porras; Vicente Vicente; María Luisa Lozano; José María Bastida; José Rivera
Journal: Int J Mol Sci Date: 2021-04-26 Impact factor: 5.923

Review 7. Circulating platelet count and glycans.

Authors: Leonardo Rivadeneyra; Hervé Falet; Karin M Hoffmeister
Journal: Curr Opin Hematol Date: 2021-11-01 Impact factor: 3.284

Review 8. Inherited thrombocytopenias: history, advances and perspectives.

Authors: Alan T Nurden; Paquita Nurden
Journal: Haematologica Date: 2020-06-11 Impact factor: 9.941

9. Diagnosis of Inherited Platelet Disorders on a Blood Smear.

Authors: Carlo Zaninetti; Andreas Greinacher
Journal: J Clin Med Date: 2020-02-17 Impact factor: 4.241

10. Immune cells surveil aberrantly sialylated O-glycans on megakaryocytes to regulate platelet count.

Authors: Melissa M Lee-Sundlov; Robert T Burns; Taylor O Kim; Renata Grozovsky; Silvia Giannini; Leonardo Rivadeneyra; Yongwei Zheng; Simon H Glabere; Walter H A Kahr; Reza Abdi; Jenny M Despotovic; Demin Wang; Karin M Hoffmeister
Journal: Blood Date: 2021-12-09 Impact factor: 22.113