Literature DB >> 28168442

Revertant mosaicism in genodermatoses.

Young H Lim1,2,3, Jonathan M Fisher1, Keith A Choate4,5,6.   

Abstract

Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood. In this review, we provide an overview of genodermatoses that demonstrate widespread reversion and their corrective mechanisms, as well as the current research aimed to understand this "natural gene therapy".

Entities:  

Keywords:  Confetti; DNA repair; Epidermolysis bullosa; Genodermatoses; Reversion; Revertant mosaicism

Mesh:

Substances:

Year:  2017        PMID: 28168442      PMCID: PMC5506545          DOI: 10.1007/s00018-017-2468-2

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN: 1420-682X            Impact factor:   9.261


  77 in total

Review 1.  Structure and function of hemidesmosomes: more than simple adhesion complexes.

Authors:  L Borradori; A Sonnenberg
Journal:  J Invest Dermatol       Date:  1999-04       Impact factor: 8.551

2.  Mutation selection and the natural history of cancer.

Authors:  J Cairns
Journal:  Nature       Date:  1975-05-15       Impact factor: 49.962

3.  Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

Authors:  Frances J D Smith; Susan M Morley; W H Irwin McLean
Journal:  J Invest Dermatol       Date:  2004-01       Impact factor: 8.551

4.  Revertant mosaicism in Kindler syndrome.

Authors:  Joey E Lai-Cheong; Celia Moss; Maddy Parsons; Noor Almaani; John A McGrath
Journal:  J Invest Dermatol       Date:  2011-11-17       Impact factor: 8.551

Review 5.  Mosaicism in health and disease - clones picking up speed.

Authors:  Lars A Forsberg; David Gisselsson; Jan P Dumanski
Journal:  Nat Rev Genet       Date:  2016-12-12       Impact factor: 53.242

6.  Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Authors:  John E Wagner; Akemi Ishida-Yamamoto; John A McGrath; Maria Hordinsky; Douglas R Keene; David T Woodley; Mei Chen; Megan J Riddle; Mark J Osborn; Troy Lund; Michelle Dolan; Bruce R Blazar; Jakub Tolar
Journal:  N Engl J Med       Date:  2010-08-12       Impact factor: 91.245

7.  Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Authors:  Dimitra Kiritsi; Yinghong He; Anna M G Pasmooij; Meltem Onder; Rudolf Happle; Marcel F Jonkman; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Clin Invest       Date:  2012-04-02       Impact factor: 14.808

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

9.  Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.

Authors:  Iñigo Martincorena; Amit Roshan; Moritz Gerstung; Peter Ellis; Peter Van Loo; Stuart McLaren; David C Wedge; Anthony Fullam; Ludmil B Alexandrov; Jose M Tubio; Lucy Stebbings; Andrew Menzies; Sara Widaa; Michael R Stratton; Philip H Jones; Peter J Campbell
Journal:  Science       Date:  2015-05-22       Impact factor: 47.728

Review 10.  Concise review: bone marrow-derived stem/progenitor cells in cutaneous repair and regeneration.

Authors:  Yaojiong Wu; Robert C H Zhao; Edward E Tredget
Journal:  Stem Cells       Date:  2010-05       Impact factor: 6.277

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  10 in total

1.  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

2.  Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.

Authors:  Concetta Federico; Ketty Dugo; Francesca Bruno; Anna Maria Longo; Agata Grillo; Salvatore Saccone
Journal:  Hum Genet       Date:  2017-05-15       Impact factor: 4.132

Review 3.  Epidermolysis Bullosa: A Review of the Tissue-Engineered Skin Substitutes Used to Treat Wounds.

Authors:  Alex du Rand; John M T Hunt; Vaughan Feisst; Hilary M Sheppard
Journal:  Mol Diagn Ther       Date:  2022-10-17       Impact factor: 4.476

Review 4.  Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.

Authors:  Haseena Sait; Somya Srivastava; Deepti Saxena
Journal:  Int J Gen Med       Date:  2022-05-24

5.  POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks.

Authors:  Luther Davis; Kevin J Khoo; Yinbo Zhang; Nancy Maizels
Journal:  Proc Natl Acad Sci U S A       Date:  2020-09-01       Impact factor: 11.205

Review 6.  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

7.  Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Authors:  Shotaro Suzuki; Toshifumi Nomura; Toshinari Miyauchi; Masae Takeda; Yasuyuki Fujita; Wataru Nishie; Masashi Akiyama; Akemi Ishida-Yamamoto; Hiroshi Shimizu
Journal:  Life Sci Alliance       Date:  2019-02-04

Review 8.  Investigational Treatments for Epidermolysis Bullosa.

Authors:  Ping-Chen Hou; Han-Tang Wang; Stasha Abhee; Wei-Ting Tu; John A McGrath; Chao-Kai Hsu
Journal:  Am J Clin Dermatol       Date:  2021-07-22       Impact factor: 7.403

Review 9.  Ichthyosis: A Road Model for Skin Research.

Authors:  Anders Vahlquist; Hans Törmä
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

Review 10.  Revertant Mosaicism in Epidermolysis Bullosa.

Authors:  Cameron Meyer-Mueller; Mark J Osborn; Jakub Tolar; Christina Boull; Christen L Ebens
Journal:  Biomedicines       Date:  2022-01-06
  10 in total

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