Literature DB >> 9657775

A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes.

T Ariga, M Yamada, Y Sakiyama, O Tatsuzawa.   

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Year:  1998        PMID: 9657775

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  10 in total

1.  Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.

Authors:  Maxim I Lutskiy; Diana S Beardsley; Fred S Rosen; Eileen Remold-O'Donnell
Journal:  Blood       Date:  2005-06-28       Impact factor: 22.113

2.  In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.

Authors:  K Manning; M Al-Dhalimy; M Finegold; M Grompe
Journal:  Proc Natl Acad Sci U S A       Date:  1999-10-12       Impact factor: 11.205

Review 3.  In vivo reversion to normal of inherited mutations in humans.

Authors:  R Hirschhorn
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

4.  Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Authors:  Brian R Davis; Michael J Dicola; Nicole L Prokopishyn; Jonathan B Rosenberg; Daniele Moratto; Linda M Muul; Fabio Candotti; R Michael Blaese
Journal:  Blood       Date:  2008-03-10       Impact factor: 22.113

Review 5.  Somatic genetic rescue in Mendelian haematopoietic diseases.

Authors:  Patrick Revy; Caroline Kannengiesser; Alain Fischer
Journal:  Nat Rev Genet       Date:  2019-06-11       Impact factor: 53.242

6.  Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.

Authors:  Jakub Tolar; John A McGrath; Lily Xia; Megan J Riddle; Chris J Lees; Cindy Eide; Douglas R Keene; Lu Liu; Mark J Osborn; Troy C Lund; Bruce R Blazar; John E Wagner
Journal:  J Invest Dermatol       Date:  2013-12-06       Impact factor: 8.551

Review 7.  Reversion Mosaicism in Primary Immunodeficiency Diseases.

Authors:  Hanae Miyazawa; Taizo Wada
Journal:  Front Immunol       Date:  2021-11-16       Impact factor: 7.561

8.  Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.

Authors:  Maxim I Lutskiy; Jun Y Park; Susanna K Remold; Eileen Remold-O'Donnell
Journal:  PLoS One       Date:  2008-10-20       Impact factor: 3.240

9.  A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

Authors:  Peter C van den Akker; Anna M G Pasmooij; Hans Joenje; Robert M W Hofstra; Gerard J Te Meerman; Marcel F Jonkman
Journal:  PLoS One       Date:  2018-02-22       Impact factor: 3.240

10.  Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.

Authors:  Eileen Nicoletti; Gayatri Rao; Juan A Bueren; Paula Río; Susana Navarro; Jordi Surrallés; Grace Choi; Jonathan D Schwartz
Journal:  Ann Hematol       Date:  2020-02-17       Impact factor: 3.673

  10 in total

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