Literature DB >> 23619787

DGKE and atypical HUS.

Susan E Quaggin1.   

Abstract

A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.

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Year:  2013        PMID： 23619787     DOI： 10.1038/ng.2622

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   41.307


  15 in total

1.  Eculizumab for atypical hemolytic-uremic syndrome.

Authors:  Jens Nürnberger; Thomas Philipp; Oliver Witzke; Anabelle Opazo Saez; Udo Vester; Hideo Andreas Baba; Andreas Kribben; Lothar Bernd Zimmerhackl; Andreas R Janecke; Mato Nagel; Michael Kirschfink
Journal:  N Engl J Med       Date:  2009-01-29       Impact factor: 91.245

2.  Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome.

Authors:  V Chatelet; V Frémeaux-Bacchi; T Lobbedez; M Ficheux; B Hurault de Ligny
Journal:  Am J Transplant       Date:  2009-09-22       Impact factor: 8.086

Review 3.  Atypical hemolytic-uremic syndrome.

Authors:  Marina Noris; Giuseppe Remuzzi
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

4.  Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Authors:  P Warwicker; T H Goodship; R L Donne; Y Pirson; A Nicholls; R M Ward; P Turnpenny; J A Goodship
Journal:  Kidney Int       Date:  1998-04       Impact factor: 10.612

5.  TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.

Authors:  Jochen Reiser; Krishna R Polu; Clemens C Möller; Peter Kenlan; Mehmet M Altintas; Changli Wei; Christian Faul; Stephanie Herbert; Ivan Villegas; Carmen Avila-Casado; Mary McGee; Hikaru Sugimoto; Dennis Brown; Raghu Kalluri; Peter Mundel; Paula L Smith; David E Clapham; Martin R Pollak
Journal:  Nat Genet       Date:  2005-05-27       Impact factor: 38.330

Review 6.  Hereditary proteinuria syndromes and mechanisms of proteinuria.

Authors:  Karl Tryggvason; Jaakko Patrakka; Jorma Wartiovaara
Journal:  N Engl J Med       Date:  2006-03-30       Impact factor: 91.245

7.  A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

Authors:  Michelle P Winn; Peter J Conlon; Kelvin L Lynn; Merry Kay Farrington; Tony Creazzo; April F Hawkins; Nikki Daskalakis; Shu Ying Kwan; Seth Ebersviller; James L Burchette; Margaret A Pericak-Vance; David N Howell; Jeffery M Vance; Paul B Rosenberg
Journal:  Science       Date:  2005-05-05       Impact factor: 47.728

8.  VEGF inhibition and renal thrombotic microangiopathy.

Authors:  Vera Eremina; J Ashley Jefferson; Jolanta Kowalewska; Howard Hochster; Mark Haas; Joseph Weisstuch; Catherine Richardson; Jeffrey B Kopp; M Golam Kabir; Peter H Backx; Hans-Peter Gerber; Napoleone Ferrara; Laura Barisoni; Charles E Alpers; Susan E Quaggin
Journal:  N Engl J Med       Date:  2008-03-13       Impact factor: 91.245

9.  Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

Authors:  Mathieu Lemaire; Véronique Frémeaux-Bacchi; Franz Schaefer; Murim Choi; Wai Ho Tang; Moglie Le Quintrec; Fadi Fakhouri; Sophie Taque; François Nobili; Frank Martinez; Weizhen Ji; John D Overton; Shrikant M Mane; Gudrun Nürnberg; Janine Altmüller; Holger Thiele; Denis Morin; Georges Deschenes; Véronique Baudouin; Brigitte Llanas; Laure Collard; Mohammed A Majid; Eva Simkova; Peter Nürnberg; Nathalie Rioux-Leclerc; Gilbert W Moeckel; Marie Claire Gubler; John Hwa; Chantal Loirat; Richard P Lifton
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 41.307

10.  Thrombomodulin mutations in atypical hemolytic-uremic syndrome.

Authors:  Mieke Delvaeye; Marina Noris; Astrid De Vriese; Charles T Esmon; Naomi L Esmon; Gary Ferrell; Jurgen Del-Favero; Stephane Plaisance; Bart Claes; Diether Lambrechts; Carla Zoja; Giuseppe Remuzzi; Edward M Conway
Journal:  N Engl J Med       Date:  2009-07-23       Impact factor: 91.245
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  14 in total

1.  [Clinical course and differential diagnosis of thrombotic microangiopathy].

Authors:  M Guthoff; N Heyne
Journal:  Med Klin Intensivmed Notfmed       Date:  2016-07-12       Impact factor: 0.840

Review 2.  Current treatment of atypical hemolytic uremic syndrome.

Authors:  Bernard S Kaplan; Rebecca L Ruebner; Joann M Spinale; Lawrence Copelovitch
Journal:  Intractable Rare Dis Res       Date:  2014-05

Review 3.  An international consensus approach to the management of atypical hemolytic uremic syndrome in children.

Authors:  Chantal Loirat; Fadi Fakhouri; Gema Ariceta; Nesrin Besbas; Martin Bitzan; Anna Bjerre; Rosanna Coppo; Francesco Emma; Sally Johnson; Diana Karpman; Daniel Landau; Craig B Langman; Anne-Laure Lapeyraque; Christoph Licht; Carla Nester; Carmine Pecoraro; Magdalena Riedl; Nicole C A J van de Kar; Johan Van de Walle; Marina Vivarelli; Véronique Frémeaux-Bacchi
Journal:  Pediatr Nephrol       Date:  2015-04-11       Impact factor: 3.714

4.  Diacylglycerol kinase epsilon protects against renal ischemia/reperfusion injury in mice through Krüppel-like factor 15/klotho pathway.

Authors:  Ziying Wang; Zhuanli Zhou; Yanan Zhang; Fuwen Zuo; Junyao Du; Mingwei Wang; Muchen Hu; Yu Sun; Xiaojie Wang; Min Liu; Yan Zhang; Wei Tang; Fan Yi
Journal:  Ren Fail       Date:  2022-12       Impact factor: 3.222

5.  Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.

Authors:  E B Volokhina; D Westra; T J A M van der Velden; N C A J van de Kar; T E Mollnes; L P van den Heuvel
Journal:  Clin Exp Immunol       Date:  2015-08       Impact factor: 4.330

6.  DGKE disruption ditches complement and drives p38 signaling.

Authors:  K Vinod Vijayan
Journal:  Blood       Date:  2015-02-05       Impact factor: 25.476

7.  A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.

Authors:  Xiuhong Pang; Huajie Luo; Yongchuan Chai; Xiaowen Wang; Lianhua Sun; Longxia He; Penghui Chen; Hao Wu; Tao Yang
Journal:  PLoS One       Date:  2015-03-27       Impact factor: 3.240

Review 8.  How I treat thrombotic thrombocytopenic purpura and atypical haemolytic uraemic syndrome.

Authors:  Marie Scully; Tim Goodship
Journal:  Br J Haematol       Date:  2014-01-06       Impact factor: 6.998

Review 9.  Advances in our understanding of the pathogenesis of hemolytic uremic syndromes.

Authors:  E E Bowen; R J Coward
Journal:  Am J Physiol Renal Physiol       Date:  2017-11-22

10.  Phenotypic expansion of DGKE-associated diseases.

Authors:  Rik Westland; Monica Bodria; Alba Carrea; Sneh Lata; Francesco Scolari; Veronique Fremeaux-Bacchi; Vivette D D'Agati; Richard P Lifton; Ali G Gharavi; Gian Marco Ghiggeri; Simone Sanna-Cherchi
Journal:  J Am Soc Nephrol       Date:  2014-02-07       Impact factor: 14.978
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