Literature DB >> 23200509

Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.

Takuya Takeichi, Kazumitsu Sugiura, Kazuyuki Matsuda, Michihiro Kono, Masashi Akiyama.   

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Year:  2012        PMID： 23200509     DOI： 10.1016/j.jdermsci.2012.11.004

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  5 in total

1.  Recurrent KRT10 Variant in Ichthyosis with Confetti.

Authors:  Takuya Takeichi; Yasushi Suga; Takashi Mizuno; Yusuke Okuno; Daisuke Ichikawa; Michihiro Kono; John Y W Lee; John A McGrath; Masashi Akiyama
Journal:  Acta Derm Venereol       Date:  2020-07-02       Impact factor: 3.875

2.  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

3.  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

4.  Positive selection in Europeans and East-Asians at the ABCA12 gene.

Authors:  Roberto Sirica; Marianna Buonaiuto; Valeria Petrella; Lucia Sticco; Donatella Tramontano; Dario Antonini; Caterina Missero; Ombretta Guardiola; Gennaro Andolfi; Heerman Kumar; Qasim Ayub; Yali Xue; Chris Tyler-Smith; Marco Salvemini; Giovanni D'Angelo; Vincenza Colonna
Journal:  Sci Rep       Date:  2019-03-19       Impact factor: 4.379

Review 5.  Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Authors:  E Cuperus; A Bygum; L Boeckmann; C Bodemer; M C Bolling; M Caproni; A Diociaiuti; S Emmert; J Fischer; A Gostynski; S Guez; M E van Gijn; K Hannulla-Jouppi; C Has; A Hernández-Martín; A E Martinez; J Mazereeuw-Hautier; M Medvecz; I Neri; V Sigurdsson; K Suessmuth; H Traupe; V Oji; S G M A Pasmans
Journal:  J Eur Acad Dermatol Venereol       Date:  2022-03-15       Impact factor: 9.228
  5 in total

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