Literature DB >> 10398261

Revertant mosaicism in human genetic disorders.

M F Jonkman1.   

Abstract

Somatic reversion of inherited mutations is known for many years in plant breeding, however it was recognized only recently in humans. The concept of revertant mosaicism is important in medical genetics. Copyright 1999 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  1999        PMID： 10398261     DOI： 10.1002/(sici)1096-8628(19990806)85:4<361::aid-ajmg11>3.0.co;2-e

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  13 in total

Review 1.  Cutaneous mosaicism: right before our eyes.

Authors:  Jorge Frank; Rudolf Happle
Journal:  J Clin Invest       Date:  2007-05       Impact factor: 14.808

Review 2.  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

3.  Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.

Authors:  Munenari Itoh; Maija Kiuru; Mitchell S Cairo; Angela M Christiano
Journal:  Proc Natl Acad Sci U S A       Date:  2011-05-09       Impact factor: 11.205

Review 4.  Revertant mosaicism in genodermatoses.

Authors:  Young H Lim; Jonathan M Fisher; Keith A Choate
Journal:  Cell Mol Life Sci       Date:  2017-02-06       Impact factor: 9.261

5.  Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Authors:  Gulbu Uzel; Emilia Tng; Sergio D Rosenzweig; Amy P Hsu; Jacqueline M Shaw; Mitchell E Horwitz; Gilda F Linton; Stacie M Anderson; Martha R Kirby; Jaõ B Oliveira; Margaret R Brown; Thomas A Fleisher; S K Alex Law; Steven M Holland
Journal:  Blood       Date:  2007-09-17       Impact factor: 22.113

Review 6.  In vivo reversion to normal of inherited mutations in humans.

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

7.  Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

Authors:  Ina Vandenbroucke; Remco van Doorn; Tom Callens; Jan M Cobben; Theo M Starink; Ludwine Messiaen
Journal:  Hum Genet       Date:  2003-11-06       Impact factor: 4.132

8.  Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

Authors:  Yasushi Ogawa; Takuya Takeichi; Michihiro Kono; Nobuyuki Hamajima; Toshimichi Yamamoto; Kazumitsu Sugiura; Masashi Akiyama
Journal:  PLoS Genet       Date:  2014-05-01       Impact factor: 5.917

9.  Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs).

Authors:  Munenari Itoh; Noriko Umegaki-Arao; Zongyou Guo; Liang Liu; Claire A Higgins; Angela M Christiano
Journal:  PLoS One       Date:  2013-10-11       Impact factor: 3.240

10.  Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation.

Authors:  Seyed Mohsen Dehghani; Mahmood Haghighat; Mohammad Hadi Imanieh; Hossein Karamnejad; Abdorrasoul Malekpour
Journal:  Int J Prev Med       Date:  2013-12
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