Literature DB >> 19262603

ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

Kaori Sakai, Masashi Akiyama, Teruki Yanagi, James R McMillan, Tamio Suzuki, Katsuhiko Tsukamoto, Hideaki Sugiyama, Yuji Hatano, Michiko Hayashitani, Kenji Takamori, Keiko Nakashima, Hiroshi Shimizu.   

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Year:  2009        PMID： 19262603     DOI： 10.1038/jid.2009.23

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


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  10 in total

1.  Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Authors:  Nareh V Marukian; Rong-Hua Hu; Brittany G Craiglow; Leonard M Milstone; Jing Zhou; Amy Theos; Hande Kaymakcalan; Deniz A Akkaya; Jouni J Uitto; Hassan Vahidnezhad; Leila Youssefian; Susan J Bayliss; Amy S Paller; Lynn M Boyden; Keith A Choate
Journal:  JAMA Dermatol       Date:  2017-06-01       Impact factor: 10.282

2.  Control of somatic tissue differentiation by the long non-coding RNA TINCR.

Authors:  Markus Kretz; Zurab Siprashvili; Ci Chu; Dan E Webster; Ashley Zehnder; Kun Qu; Carolyn S Lee; Ross J Flockhart; Abigail F Groff; Jennifer Chow; Danielle Johnston; Grace E Kim; Robert C Spitale; Ryan A Flynn; Grace X Y Zheng; Subhadra Aiyer; Arjun Raj; John L Rinn; Howard Y Chang; Paul A Khavari
Journal:  Nature       Date:  2012-12-02       Impact factor: 49.962

3.  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

4.  Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans.

Authors:  Guolian Kang; Guimin Gao; Sanjay Shete; David T Redden; Bao-Li Chang; Timothy R Rebbeck; Jill S Barnholtz-Sloan; Nicholas M Pajewski; David B Allison
Journal:  Front Genet       Date:  2011       Impact factor: 4.599

5.  Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.

Authors:  Naomi Tani; Nanako Yamada; Tetsuya Okazaki; Takashi Horie; Hajime Nakano; Daisuke Sawamura; Osamu Yamamoto
Journal:  Acta Derm Venereol       Date:  2020-10-06       Impact factor: 3.875

Review 6.  Updated molecular genetics and pathogenesis of ichthiyoses.

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

7.  Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

Authors:  Lei Zhang; Michael Ferreyros; Weiguo Feng; Melanie Hupe; Debra A Crumrine; Jiang Chen; Peter M Elias; Walter M Holleran; Lee Niswander; Daniel Hohl; Trevor Williams; Enrique C Torchia; Dennis R Roop
Journal:  PLoS One       Date:  2016-08-23       Impact factor: 3.240

8.  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

9.  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

10.  Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Authors:  Dulce Lima Cunha; Omar Mohammed Alakloby; Robert Gruber; Naseebullah Kakar; Jamil Ahmad; Salem Alawbathani; Roswitha Plank; Katja Eckl; Birgit Krabichler; Janine Altmüller; Peter Nürnberg; Johannes Zschocke; Guntram Borck; Matthias Schmuth; Adnan S Alabdulkareem; Kholood Abdulaziz Alnutaifi; Hans Christian Hennies
Journal:  Mol Genet Genomic Med       Date:  2019-01-01       Impact factor: 2.183
  10 in total

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