Literature DB >> 33108100

Hiding in Plain Sight - Somatic Mutation in Human Disease.

Ephrat Levy-Lahad1, Mary-Claire King1.   

Abstract

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Mesh：

Year:  2020        PMID： 33108100     DOI： 10.1056/NEJMe2030754

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


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  6 in total

Review 1.  Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Authors:  Keith A Sikora; Kristina V Wells; Ertugrul Cagri Bolek; Adrianna I Jones; Peter C Grayson
Journal:  Rheumatology (Oxford)       Date:  2022-08-03       Impact factor: 7.046

2.  The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient.

Authors:  Andreas Himmelmann; Rolf Brücker
Journal:  Eur J Case Rep Intern Med       Date:  2021-04-13

3.  Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.

Authors:  Wenxi Yu; Corrine E Smolen; Sophie F Hill; Miriam H Meisler
Journal:  Hum Mol Genet       Date:  2021-05-29       Impact factor: 6.150

Review 4.  VEXAS syndrome.

Authors:  Peter C Grayson; Bhavisha A Patel; Neal S Young
Journal:  Blood       Date:  2021-07-01       Impact factor: 25.476

5.  USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still's Disease in Elderly Patients.

Authors:  Marion Delplanque; Achille Aouba; Pierre Hirsch; Pierre Fenaux; Julie Graveleau; Florent Malard; Damien Roos-Weil; Nabil Belfeki; Louis Drevon; Artem Oganesyan; Matthieu Groh; Matthieu Mahévas; Jerome Razanamahery; Gwenola Maigne; Matthieu Décamp; Sébastien Miranda; Thomas Quemeneur; Julien Rossignol; Laurent Sailler; Marie Sébert; Louis Terriou; Anna Sevoyan; Yervand Hakobyan; Sophie Georgin-Lavialle; Arsène Mekinian
Journal:  J Clin Med       Date:  2021-11-27       Impact factor: 4.241

Review 6.  Vasculitis associated with VEXAS syndrome: A literature review.

Authors:  Ryu Watanabe; Manami Kiji; Motomu Hashimoto
Journal:  Front Med (Lausanne)       Date:  2022-08-15
  6 in total

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