Literature DB >> 29941673

Mutation in GNE is associated with severe congenital thrombocytopenia.

Jane Futterer1, Amanda Dalby1, Gillian C Lowe1, Ben Johnson1, Michael A Simpson2, Jayashree Motwani3, Mike Williams3, Steve P Watson1, Neil V Morgan1.   

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Year:  2018        PMID： 29941673      PMCID： PMC6238157          DOI： 10.1182/blood-2018-04-847798

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


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  16 in total

1.  Inherited thrombocytopenias.

Authors:  Alan T Nurden; Paquita Nurden
Journal:  Haematologica       Date:  2007-09       Impact factor: 9.941

2.  A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.

Authors:  Vladimir T Manchev; Morgane Hilpert; Eliane Berrou; Ziane Elaib; Achille Aouba; Siham Boukour; Sylvie Souquere; Gerard Pierron; Philippe Rameau; Robert Andrews; François Lanza; Regis Bobe; William Vainchenker; Jean-Philippe Rosa; Marijke Bryckaert; Najet Debili; Remi Favier; Hana Raslova
Journal:  Blood       Date:  2014-07-24       Impact factor: 22.113

3.  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

4.  Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Authors:  R Seppala; V P Lehto; W A Gahl
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Authors:  I Eisenberg; N Avidan; T Potikha; H Hochner; M Chen; T Olender; M Barash; M Shemesh; M Sadeh; G Grabov-Nardini; I Shmilevich; A Friedmann; G Karpati; W G Bradley; L Baumbach; D Lancet; E B Asher; J S Beckmann; Z Argov; S Mitrani-Rosenbaum
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

6.  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

7.  The Ashwell-Morell receptor regulates hepatic thrombopoietin production via JAK2-STAT3 signaling.

Authors:  Renata Grozovsky; Antonija Jurak Begonja; Kaifeng Liu; Gary Visner; John H Hartwig; Hervé Falet; Karin M Hoffmeister
Journal:  Nat Med       Date:  2014-12-08       Impact factor: 53.440

8.  Recurring mutations found by sequencing an acute myeloid leukemia genome.

Authors:  Elaine R Mardis; Li Ding; David J Dooling; David E Larson; Michael D McLellan; Ken Chen; Daniel C Koboldt; Robert S Fulton; Kim D Delehaunty; Sean D McGrath; Lucinda A Fulton; Devin P Locke; Vincent J Magrini; Rachel M Abbott; Tammi L Vickery; Jerry S Reed; Jody S Robinson; Todd Wylie; Scott M Smith; Lynn Carmichael; James M Eldred; Christopher C Harris; Jason Walker; Joshua B Peck; Feiyu Du; Adam F Dukes; Gabriel E Sanderson; Anthony M Brummett; Eric Clark; Joshua F McMichael; Rick J Meyer; Jonathan K Schindler; Craig S Pohl; John W Wallis; Xiaoqi Shi; Ling Lin; Heather Schmidt; Yuzhu Tang; Carrie Haipek; Madeline E Wiechert; Jolynda V Ivy; Joelle Kalicki; Glendoria Elliott; Rhonda E Ries; Jacqueline E Payton; Peter Westervelt; Michael H Tomasson; Mark A Watson; Jack Baty; Sharon Heath; William D Shannon; Rakesh Nagarajan; Daniel C Link; Matthew J Walter; Timothy A Graubert; John F DiPersio; Richard K Wilson; Timothy J Ley
Journal:  N Engl J Med       Date:  2009-08-05       Impact factor: 91.245

9.  Platelet desialylation is a novel mechanism and a therapeutic target in thrombocytopenia during sepsis: an open-label, multicenter, randomized controlled trial.

Authors:  Mei-Feng Li; Xiao-Li Li; Kai-Liang Fan; Ying-Yi Yu; Jing Gong; Shu-Ying Geng; Ya-Feng Liang; Ling Huang; Ji-Hua Qiu; Xing-Han Tian; Wen-Ting Wang; Xiao-Lu Zhang; Qing-Xia Yu; Yuan-Feng Zhang; Peng Lin; Li-Na Wang; Xin Li; Ming Hou; Lu-Yi Liu; Jun Peng
Journal:  J Hematol Oncol       Date:  2017-05-11       Impact factor: 17.388

10.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962
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  24 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.  A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.

Authors:  Alexandre Kauskot; Tiffany Pascreau; Frédéric Adam; Arnaud Bruneel; Christelle Reperant; Marc-Damien Lourenco-Rodrigues; Jean-Philippe Rosa; Rachel Petermann; Hélène Maurey; Claire Auditeau; Dominique Lasne; Cécile V Denis; Marijke Bryckaert; Pascale de Lonlay; Cécile Lavenu-Bombled; Judith Melki; Delphine Borgel
Journal:  Haematologica       Date:  2018-08-16       Impact factor: 9.941

4.  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 5.  Genetics of inherited thrombocytopenias.

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

Review 6.  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 7.  GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Authors:  Nuria Carrillo; May C Malicdan; Marjan Huizing
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

Review 8.  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 9.  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

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
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