Literature DB >> 26018111

Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.

Toshiyuki Miyata1, Yumiko Uchida, Toshiyuki Ohta, Kohtaro Urayama, Yoko Yoshida, Yoshihiro Fujimura.   

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Year:  2015        PMID： 26018111     DOI： 10.1160/TH15-01-0007

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   6.681


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  9 in total

1.  No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.

Authors:  Toshiyuki Miyata; Yumiko Uchida; Yoko Yoshida; Hideki Kato; Masanori Matsumoto; Koichi Kokame; Yoshihiro Fujimura; Masaomi Nangaku
Journal:  Int J Hematol       Date:  2016-05-18       Impact factor: 2.490

2.  Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.

Authors:  Xinping Fan; Johanna A Kremer Hovinga; Hiroko Shirotani-Ikejima; Yuka Eura; Hidenori Hirai; Shigenori Honda; Koichi Kokame; Magnus Mansouri Taleghani; Anne-Sophie von Krogh; Yoko Yoshida; Yoshihiro Fujimura; Bernhard Lämmle; Toshiyuki Miyata
Journal:  Int J Hematol       Date:  2016-02-01       Impact factor: 2.490

3.  The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.

Authors:  Karolis Azukaitis; Eva Simkova; Mohammad Abdul Majid; Matthias Galiano; Kerstin Benz; Kerstin Amann; Clemens Bockmeyer; Radha Gajjar; Kevin E Meyers; Hae Il Cheong; Bärbel Lange-Sperandio; Therese Jungraithmayr; Véronique Frémeaux-Bacchi; Carsten Bergmann; Csaba Bereczki; Monika Miklaszewska; Dorottya Csuka; Zoltán Prohászka; Paul Killen; Patrick Gipson; Matthew G Sampson; Mathieu Lemaire; Franz Schaefer
Journal:  J Am Soc Nephrol       Date:  2017-05-19       Impact factor: 14.978

4.  Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist.

Authors:  Danya Husain; Brian Barron; Anya Golkowski Barron; Ibrahim Sandokji; Olivera Marsenic; Jillian K Warejko
Journal:  J Nephrol       Date:  2021-03-22       Impact factor: 4.393

Review 5.  Diacylglycerol Kinase-ε: Properties and Biological Roles.

Authors:  Richard M Epand; Vincent So; William Jennings; Bijendra Khadka; Radhey S Gupta; Mathieu Lemaire
Journal:  Front Cell Dev Biol       Date:  2016-10-18

6.  Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Authors:  Madoka Fujisawa; Hideki Kato; Yoko Yoshida; Tomoko Usui; Munenori Takata; Mika Fujimoto; Hideo Wada; Yumiko Uchida; Koichi Kokame; Masanori Matsumoto; Yoshihiro Fujimura; Toshiyuki Miyata; Masaomi Nangaku
Journal:  Clin Exp Nephrol       Date:  2018-03-06       Impact factor: 2.801

7.  Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.

Authors:  Vicky Brocklebank; Gurinder Kumar; Alexander J Howie; Jayanthi Chandar; David V Milford; Janet Craze; Jonathan Evans; Eric Finlay; Michael Freundlich; Daniel P Gale; Carol Inward; Martin Mraz; Caroline Jones; William Wong; Stephen D Marks; John Connolly; Bronte M Corner; Kate Smith-Jackson; Patrick R Walsh; Kevin J Marchbank; Claire L Harris; Valerie Wilson; Edwin K S Wong; Michal Malina; Sally Johnson; Neil S Sheerin; David Kavanagh
Journal:  Kidney Int       Date:  2020-02-28       Impact factor: 10.612

8.  Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.

Authors:  Jyoti Sharma; Valentine Lobo; Jyoti Singhal; Siddharth Anand; Sandeep Kadam; Shatakshi Ranade; Priyanka Gangodkar; Karthik Ganesan; Nikhil Phadke; Meenal Agarwal
Journal:  Indian J Nephrol       Date:  2021-04-02

9.  Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications.

Authors:  Maria Izabel de Holanda; Caio Perez Gomes; Stanley de Almeida Araujo; David Campos Wanderley; Renato George Eick; Gustavo Coelho Dantas; Michele Karen Dos Santos Tino; João Bosco Pesquero; Lilian Monteiro Pereira Palma
Journal:  Clin Kidney J       Date:  2019-05-14
  9 in total

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