Literature DB >> 25075848

Mutant ADA2 in vasculopathies.

Lien Van Eyck, Adrian Liston, Carine Wouters.   

Abstract

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Year:  2014        PMID： 25075848     DOI： 10.1056/NEJMc1405506

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


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  23 in total

Review 1.  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

2.  Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

Authors:  Fabiano de Oliveira Poswar; Raymundo Mesko Tomkowski da Fonseca; Leonardo Cordenonzi Pedroso de Albuquerque; Qing Zhou; Laura Bannach Jardim; Thais Lampert Monte; Ivona Aksentijevich; Jonas Alex Morales Saute
Journal:  J Neurol       Date:  2016-02-25       Impact factor: 4.849

3.  A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Authors:  Mélanie Rama; Claire Duflos; Isabelle Melki; Didier Bessis; Axelle Bonhomme; Hélène Martin; Diane Doummar; Stéphanie Valence; Diana Rodriguez; Emilie Carme; David Genevieve; Ketil Heimdal; Antonella Insalaco; Nathalie Franck; Viviane Queyrel-Moranne; Nathalie Tieulie; Jonathan London; Florence Uettwiller; Sophie Georgin-Lavialle; Alexandre Belot; Isabelle Koné-Paut; Véronique Hentgen; Guilaine Boursier; Isabelle Touitou; Guillaume Sarrabay
Journal:  Eur J Hum Genet       Date:  2018-04-23       Impact factor: 4.246

Review 4.  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

5.  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

Review 6.  The same mutation in a family with adenosine deaminase 2 deficiency.

Authors:  Betul Sozeri; Gozde Ercan; Ozlem Akgun Dogan; Jale Yıldız; Ferhat Demir; Levent Doğanay
Journal:  Rheumatol Int       Date:  2019-09-20       Impact factor: 2.631

7.  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

8.  Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Authors:  Hasan Hashem; Ashish R Kumar; Ingo Müller; Florian Babor; Robbert Bredius; Jignesh Dalal; Amy P Hsu; Steven M Holland; Dennis D Hickstein; Stephen Jolles; Robert Krance; Ghadir Sasa; Mervi Taskinen; Minna Koskenvuo; Janna Saarela; Joris van Montfrans; Keith Wilson; Barbara Bosch; Leen Moens; Michael Hershfield; Isabelle Meyts
Journal:  Blood       Date:  2017-10-03       Impact factor: 22.113

Review 9.  Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

Authors:  Hasan Hashem; Susan J Kelly; Nancy J Ganson; Michael S Hershfield
Journal:  Curr Rheumatol Rep       Date:  2017-10-05       Impact factor: 4.592

10.  Plasma Adenosine Deaminase (ADA)-1 and -2 Demonstrate Robust Ontogeny Across the First Four Months of Human Life.

Authors:  Oludare A Odumade; Alec L Plotkin; Jensen Pak; Olubukola T Idoko; Matthew A Pettengill; Tobias R Kollmann; Al Ozonoff; Beate Kampmann; Ofer Levy; Kinga K Smolen
Journal:  Front Immunol       Date:  2021-05-27       Impact factor: 7.561
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