Literature DB >> 27208707

Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation.

Young H Lim1, Jingyao Qiu2, Corey Saraceni3, Barbara A Burrall4, Keith A Choate5.   

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Year:  2016        PMID： 27208707      PMCID： PMC5547564          DOI： 10.1016/j.jid.2016.04.023

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  15 in total

1.  Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

Authors:  E Sprecher; A Ishida-Yamamoto; O M Becker; L Marekov; C J Miller; P M Steinert; K Neldner; G Richard
Journal:  J Invest Dermatol       Date:  2001-04       Impact factor: 8.551

2.  Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Authors:  Neil V Whittock; Frances J Smith; Hong Wan; Rajeev Mallipeddi; W Andrew Griffiths; Patricia Dopping-Hepenstal; Gabrielle H Ashton; Robin A Eady; W H Irwin McLean; John A McGrath
Journal:  J Invest Dermatol       Date:  2002-05       Impact factor: 8.551

Review 3.  Themes in RNA-protein recognition.

Authors:  D E Draper
Journal:  J Mol Biol       Date:  1999-10-22       Impact factor: 5.469

4.  Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal:  Science       Date:  2010-08-26       Impact factor: 47.728

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

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Peter M Elias; Samir Zaidi; Amy S Paller; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Leonard M Milstone; Richard P Lifton
Journal:  J Clin Invest       Date:  2015-03-16       Impact factor: 14.808

6.  Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.

Authors:  Lara Moumné; Aurélie Dipietromaria; Frank Batista; Ayhan Kocer; Marc Fellous; Eric Pailhoux; Reiner A Veitia
Journal:  Hum Mol Genet       Date:  2007-12-24       Impact factor: 6.150

7.  Phenotypic expansion in ichthyosis with confetti.

Authors:  Keith A Choate; Leonard M Milstone
Journal:  JAMA Dermatol       Date:  2015-01       Impact factor: 10.282

8.  Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Authors:  Alrun Hotz; Vinzenz Oji; Emmanuelle Bourrat; Nathalie Jonca; Juliette Mazereeuw-Hautier; Regina C Betz; Ulrike Blume-Peytavi; Karola Stieler; Fanny Morice-Picard; Ines Schönbuchner; Susanne Markus; Nina Schlipf; Judith Fischer
Journal:  Acta Derm Venereol       Date:  2016-05       Impact factor: 4.437

Review 9.  Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies.

Authors:  Christine O'Keefe; Michael A McDevitt; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2010-01-27       Impact factor: 22.113

Review 10.  Ichthyosis with confetti: clinics, molecular genetics and management.

Authors:  Liliana Guerra; Andrea Diociaiuti; May El Hachem; Daniele Castiglia; Giovanna Zambruno
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123
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  6 in total

Review 1.  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

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

Authors:  Toshifumi Nomura; Shotaro Suzuki; Toshinari Miyauchi; Masae Takeda; Satoru Shinkuma; Yasuyuki Fujita; Wataru Nishie; Masashi Akiyama; Hiroshi Shimizu
Journal:  JCI Insight       Date:  2018-03-22

Review 3.  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

4.  Expanding the Mutation Spectrum of Ichthyosis with Confetti.

Authors:  Young H Lim; Keith A Choate
Journal:  J Invest Dermatol       Date:  2016-10       Impact factor: 8.551

5.  Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.

Authors:  Lihi Atzmony; Keith A Choate
Journal:  J Invest Dermatol       Date:  2019-12       Impact factor: 8.551

6.  Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Authors:  Patricia Renz; Elias Imahorn; Iris Spoerri; Magomet Aushev; Oliver P March; Hedwig Wariwoda; Sarah Von Arb; Andreas Volz; Peter H Itin; Julia Reichelt; Bettina Burger
Journal:  J Cell Mol Med       Date:  2019-10-22       Impact factor: 5.310
  6 in total

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