Literature DB >> 25075845

Mutant ADA2 in vasculopathies.

Joris van Montfrans, Andrey Zavialov, Qing Zhou.   

Abstract

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Year:  2014        PMID： 25075845     DOI： 10.1056/NEJMc1405506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  28 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  Jacob C Ulirsch; Jeffrey M Verboon; Shideh Kazerounian; Michael H Guo; Daniel Yuan; Leif S Ludwig; Robert E Handsaker; Nour J Abdulhay; Claudia Fiorini; Giulio Genovese; Elaine T Lim; Aaron Cheng; Beryl B Cummings; Katherine R Chao; Alan H Beggs; Casie A Genetti; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Adrianna Vlachos; Jeffrey M Lipton; Eva Atsidaftos; Bertil Glader; Anupama Narla; Pierre-Emmanuel Gleizes; Marie-Françoise O'Donohue; Nathalie Montel-Lehry; David J Amor; Steven A McCarroll; Anne H O'Donnell-Luria; Namrata Gupta; Stacey B Gabriel; Daniel G MacArthur; Eric S Lander; Monkol Lek; Lydie Da Costa; David G Nathan; Andrei A Korostelev; Ron Do; Vijay G Sankaran; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

Review 2.  Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Authors:  Hirotsugu Oda; Daniel L Kastner
Journal:  Rheum Dis Clin North Am       Date:  2017-08       Impact factor: 2.670

3.  Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2.

Authors:  H Hashem; A Vatsayan; A Gupta; K Nagle; M Hershfield; J Dalal
Journal:  Bone Marrow Transplant       Date:  2017-08-14       Impact factor: 5.483

4.  Reply to Sönmez et al.

Authors:  Mélanie Rama; Isabelle Touitou; Guillaume Sarrabay
Journal:  Eur J Hum Genet       Date:  2018-09-11       Impact factor: 4.246

5.  Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism.

Authors:  Giorgia Bucciol; Selket Delafontaine; Heidi Segers; Xavier Bossuyt; Michael S Hershfield; Leen Moens; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2017-10-10       Impact factor: 8.317

Review 6.  Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Authors:  Ivona Aksentijevich
Journal:  Semin Immunopathol       Date:  2015-04-10       Impact factor: 9.623

7.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Authors:  Sezgin Sahin; Amra Adrovic; Kenan Barut; Serdal Ugurlu; Eda Tahir Turanli; Huri Ozdogan; Ozgur Kasapcopur
Journal:  Rheumatol Int       Date:  2017-05-17       Impact factor: 2.631

8.  Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells.

Authors:  Yuliia Kaljas; Chengqian Liu; Maksym Skaldin; Chengxiang Wu; Qing Zhou; Yuanan Lu; Ivona Aksentijevich; Andrey V Zavialov
Journal:  Cell Mol Life Sci       Date:  2016-09-23       Impact factor: 9.261

9.  Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.

Authors:  Dominique C Pichard; Amanda K Ombrello; Patrycja Hoffmann; Deborah L Stone; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2016-08       Impact factor: 11.527

10.  Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

Authors:  Amy P Hsu; Robert R West; Katherine R Calvo; Jennifer Cuellar-Rodriguez; Mark Parta; Susan J Kelly; Nancy J Ganson; Michael S Hershfield; Steven M Holland; Dennis D Hickstein
Journal:  J Allergy Clin Immunol       Date:  2016-04-06       Impact factor: 10.793
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