Literature DB >> 21195026

Revertant mosaicism in skin: natural gene therapy.

Joey E Lai-Cheong1, John A McGrath, Jouni Uitto.   

Abstract

Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event and that it could be clinically relevant to phenotypic expression and patient treatment. Indeed, revertant cell therapy represents a potential 'natural gene therapy' because in vivo reversion obviates the need for further genetic correction. Revertant mosaicism has been observed in several inherited conditions, including epidermolysis bullosa, a heterogeneous group of blistering skin disorders. These diseases provide a useful model for studying revertant mosaicism because of the visual and accessible nature of skin. This overview highlights the latest developments in revertant mosaicism and the translational implications germane to heritable skin disorders.
Copyright © 2010 Elsevier Ltd. All rights reserved.

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Year:  2010        PMID: 21195026      PMCID: PMC3073671          DOI: 10.1016/j.molmed.2010.11.003

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  56 in total

Review 1.  Metastable epialleles in mammals.

Authors:  Vardhman K Rakyan; Marnie E Blewitt; Riki Druker; Jost I Preis; Emma Whitelaw
Journal:  Trends Genet       Date:  2002-07       Impact factor: 11.639

2.  Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

Authors:  T Wada; S H Schurman; M Otsu; E K Garabedian; H D Ochs; D L Nelson; F Candotti
Journal:  Proc Natl Acad Sci U S A       Date:  2001-07-10       Impact factor: 11.205

3.  Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

Authors:  Francisco X Arredondo-Vega; Ines Santisteban; Eva Richard; Pawan Bali; Majed Koleilat; Michael Loubser; Abdulaziz Al-Ghonaium; Mariam Al-Helali; Michael S Hershfield
Journal:  Blood       Date:  2002-02-01       Impact factor: 22.113

4.  Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Authors:  Petra H L Schuilenga-Hut; Hans Scheffer; Hendri H Pas; Miranda Nijenhuis; Charles H C M Buys; Marcel F Jonkman
Journal:  J Invest Dermatol       Date:  2002-04       Impact factor: 8.551

5.  Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Authors:  Y Gache; M Allegra; C Bodemer; A Pisani-Spadafora; Y de Prost; J P Ortonne; G Meneguzzi
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

6.  Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.

Authors:  Yumi Tone; Taizo Wada; Fumie Shibata; Tomoko Toma; Yoko Hashida; Yoshihito Kasahara; Shoichi Koizumi; Akihiro Yachie
Journal:  Blood       Date:  2007-02-01       Impact factor: 22.113

7.  Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.

Authors:  Kaan Boztug; Ulrich Baumann; Matthias Ballmaier; David Webster; Inga Sandrock; Roland Jacobs; Thomas Lion; Sandra Preuner; Manuela Germeshausen; Gesine Hansen; Karl Welte; Christoph Klein
Journal:  Haematologica       Date:  2007-03       Impact factor: 9.941

8.  Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency.

Authors:  Frédéric Rieux-Laucat; Claire Hivroz; Annick Lim; Véronique Mateo; Isabelle Pellier; Françoise Selz; Alain Fischer; Françoise Le Deist
Journal:  N Engl J Med       Date:  2006-05-04       Impact factor: 91.245

Review 9.  Side effects of retroviral gene transfer into hematopoietic stem cells.

Authors:  Christopher Baum; Jochen Düllmann; Zhixiong Li; Boris Fehse; Johann Meyer; David A Williams; Christof von Kalle
Journal:  Blood       Date:  2003-01-02       Impact factor: 22.113

10.  Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Authors:  Fulvio Mavilio; Graziella Pellegrini; Stefano Ferrari; Francesca Di Nunzio; Enzo Di Iorio; Alessandra Recchia; Giulietta Maruggi; Giuliana Ferrari; Elena Provasi; Chiara Bonini; Sergio Capurro; Andrea Conti; Cristina Magnoni; Alberto Giannetti; Michele De Luca
Journal:  Nat Med       Date:  2006-11-19       Impact factor: 53.440

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  37 in total

Review 1.  Induced pluripotent stem cells in dermatology: potentials, advances, and limitations.

Authors:  Ganna Bilousova; Dennis R Roop
Journal:  Cold Spring Harb Perspect Med       Date:  2014-11-03       Impact factor: 6.915

2.  Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.

Authors:  K Twaroski; C Eide; M J Riddle; L Xia; C J Lees; W Chen; W Mathews; D R Keene; J A McGrath; J Tolar
Journal:  Br J Dermatol       Date:  2019-07-08       Impact factor: 9.302

Review 3.  Laminin 332 in junctional epidermolysis bullosa.

Authors:  Dimitra Kiritsi; Cristina Has; Leena Bruckner-Tuderman
Journal:  Cell Adh Migr       Date:  2012-10-17       Impact factor: 3.405

Review 4.  Molecular pathogenesis and clinical management of Fanconi anemia.

Authors:  Younghoon Kee; Alan D D'Andrea
Journal:  J Clin Invest       Date:  2012-11-01       Impact factor: 14.808

Review 5.  Mosaicism in Cutaneous Disorders.

Authors:  Young H Lim; Zoe Moscato; Keith A Choate
Journal:  Annu Rev Genet       Date:  2017-11-27       Impact factor: 16.830

Review 6.  Gene therapy for skin diseases.

Authors:  Emily Gorell; Ngon Nguyen; Alfred Lane; Zurab Siprashvili
Journal:  Cold Spring Harb Perspect Med       Date:  2014-04-01       Impact factor: 6.915

Review 7.  The genetics of human skin disease.

Authors:  Gina M DeStefano; Angela M Christiano
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

Review 8.  Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix.

Authors:  Jakub Tolar; John E Wagner
Journal:  Lancet       Date:  2013-10-05       Impact factor: 79.321

Review 9.  Modulating the stem cell niche for tissue regeneration.

Authors:  Steven W Lane; David A Williams; Fiona M Watt
Journal:  Nat Biotechnol       Date:  2014-08       Impact factor: 54.908

Review 10.  Molecular therapeutics for heritable skin diseases.

Authors:  Jouni Uitto
Journal:  J Invest Dermatol       Date:  2012-11-15       Impact factor: 8.551

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