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Literature DB >> 19369679

Revertant mosaicism--patchwork in the skin.

Marcel F Jonkman, Anna M G Pasmooij.

Abstract

Mesh：

Year: 2009 PMID： 19369679 DOI： 10.1056/NEJMc0809896

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

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21 in total

Review 1. Revertant mosaicism in skin: natural gene therapy.

Authors: Joey E Lai-Cheong; John A McGrath; Jouni Uitto
Journal: Trends Mol Med Date: 2010-12-29 Impact factor: 11.951

2. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors: Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330

3. Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

Authors: Antoni Gostyński; Sara Llames; Marta García; María J Escamez; Lucía Martinez-Santamaria; Miranda Nijenhuis; Alvaro Meana; Hendri H Pas; Fernando Larcher; Anna M G Pasmooij; Marcel F Jonkman; Marcela Del Rio
Journal: J Invest Dermatol Date: 2013-07-24 Impact factor: 8.551

4. Mutations to the rescue.

Authors: Mike May
Journal: Nat Med Date: 2011-04 Impact factor: 53.440

5. 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 6. 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

Revertant mosaicism--patchwork in the skin.

Review 1. Revertant mosaicism in skin: natural gene therapy.

2. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

3. Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

4. Mutations to the rescue.

5. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.

Review 6. Mosaicism in Cutaneous Disorders.

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

8. Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

Review 9. Revertant mosaicism in genodermatoses.

10. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.