Literature DB >> 17508018

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.

Ken Natsuga, Masashi Akiyama, Naoko Kato, Kaori Sakai, Yoriko Sugiyama-Nakagiri, Machiko Nishimura, Hiroo Hata, Masataka Abe, Ken Arita, Yukiko Tsuji-Abe, Takashi Onozuka, Satoru Aoyagi, Kazuo Kodama, Hideyuki Ujiie, Yuki Tomita, Hiroshi Shimizu.   

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Year:  2007        PMID： 17508018     DOI： 10.1038/sj.jid.5700885

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


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  11 in total

Review 1.  Epidermal barriers.

Authors:  Ken Natsuga
Journal:  Cold Spring Harb Perspect Med       Date:  2014-04-01       Impact factor: 6.915

2.  Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

Authors:  Rahim Ullah; Muhammad Ansar; Zaka Ullah Durrani; Kwanghyuk Lee; Regie Lyn P Santos-Cortez; Dost Muhammad; Mahboob Ali; Muhammad Zia; Muhammad Ayub; Suliman Khan; Josh D Smith; Deborah A Nickerson; Jay Shendure; Michael Bamshad; Suzanne M Leal; Wasim Ahmad
Journal:  Int J Dermatol       Date:  2015-11-17       Impact factor: 2.736

Review 3.  The role of barrier genes in epidermal malignancy.

Authors:  C Darido; S R Georgy; S M Jane
Journal:  Oncogene       Date:  2016-04-04       Impact factor: 9.867

4.  Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

Authors:  Masashi Akiyama; Kaori Sakai; Teruki Yanagi; Satoshi Fukushima; Hironobu Ihn; Kiyotaka Hitomi; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2010-02-18       Impact factor: 4.307

5.  The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.

Authors:  Masashi Akiyama
Journal:  Dermatoendocrinol       Date:  2011-04-01

6.  A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration.

Authors:  Armin P Piehler; Mustafa Ozcürümez; Wolfgang E Kaminski
Journal:  Front Psychiatry       Date:  2012-03-05       Impact factor: 4.157

7.  A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.

Authors:  Yoshitaka Shimizu; Yasushi Ogawa; Kazumitsu Sugiura; Jun-ichi Takeda; Kaori Sakai-Sawada; Teruki Yanagi; Atsushi Kon; Daisuke Sawamura; Hiroshi Shimizu; Masashi Akiyama
Journal:  Sci Rep       Date:  2014-10-23       Impact factor: 4.379

Review 8.  Updated molecular genetics and pathogenesis of ichthiyoses.

Authors:  Masashi Akiyama
Journal:  Nagoya J Med Sci       Date:  2011-08       Impact factor: 1.131

9.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

10.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096
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