Realm of revertant mosaicism expanding

The Journal of Investigative Dermatology
M F Jonkman, Anna M G Pasmooij

Abstract

In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.

References

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Oct 22, 2003·Journal of Medical Genetics·R Hirschhorn
Oct 28, 2005·American Journal of Human Genetics·Anna M G PasmooijMarcel F Jonkman
May 4, 2007·The Journal of Clinical Investigation·Anna M G PasmooijMarcel F Jonkman
Apr 17, 2009·The New England Journal of Medicine·Marcel F Jonkman, Anna M G Pasmooij
May 7, 2009·The British Journal of Dermatology·A GostynskiM F Jonkman
Apr 2, 2010·The Journal of Investigative Dermatology·Noor AlmaaniJohn A McGrath
Jun 25, 2010·The Journal of Investigative Dermatology·Anna M G PasmooijMarcela Del Rio
Jan 5, 2011·Trends in Molecular Medicine·Joey E Lai-CheongJouni Uitto
Sep 22, 2011·Human Mutation·Cristina HasLeena Bruckner-Tuderman
Nov 18, 2011·The Journal of Investigative Dermatology·Joey E Lai-CheongJohn A McGrath

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Citations

May 18, 2013·Journal of the American Academy of Dermatology·Howard B PrideRobert Silverman
Dec 19, 2015·Nature Reviews. Cancer·Luis C FernándezFrancisco X Real
Dec 27, 2015·Seminars in Pediatric Neurology·Martino Ruggieri, Andrea D Praticò
Mar 1, 2014·The Journal of Investigative Dermatology·Dimitra KiritsiAnna M G Pasmooij
Oct 19, 2012·Cell Adhesion & Migration·Dimitra KiritsiLeena Bruckner-Tuderman
Dec 10, 2014·Cell and Tissue Research·Gernot WalkoGerhard Wiche
May 29, 2015·Cell and Tissue Research·Gernot WalkoGerhard Wiche
Apr 19, 2013·Nature Reviews. Genetics·Leslie G Biesecker, Nancy B Spinner

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