Literature DB >> 27868142

A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.

Minori Kusakabe1, Makoto Nagai, Eiji Nakano, Orie Jitsukawa, Chikako Nishigori, Kiyofumi Yamanishi.   

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Year:  2017        PMID： 27868142     DOI： 10.2340/00015555-2550

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  3 in total

1.  Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.

Authors:  Kunal Malik; Helen He; Thy Nhat Huynh; Gary Tran; Kelly Mueller; Kristina Doytcheva; Yael Renert-Yuval; Tali Czarnowicki; Shai Magidi; Margaret Chou; Yeriel D Estrada; Huei-Chi Wen; Xiangyu Peng; Hui Xu; Xiuzhong Zheng; James G Krueger; Amy S Paller; Emma Guttman-Yassky
Journal:  J Allergy Clin Immunol       Date:  2018-05-24       Impact factor: 10.793

2.  Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.

Authors:  Elizabeth A Mauldin; Debra Crumrine; Margret L Casal; Sekyoo Jeong; Lukáš Opálka; Katerina Vavrova; Yoshikazu Uchida; Kyungho Park; Brittany Craiglow; Keith A Choate; Kyong-Oh Shin; Yong-Moon Lee; Gary L Grove; Joan S Wakefield; Denis Khnykin; Peter M Elias
Journal:  Am J Pathol       Date:  2018-03-13       Impact factor: 4.307

3.  Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Authors:  Sahar Laadhar; Riadh Ben Mansour; Slaheddine Marrakchi; Nabil Miled; Mariem Ennouri; Judith Fischer; Mohamed Ali Kaddechi; Hamida Turki; Faiza Fakhfakh
Journal:  Mol Genet Genomic Med       Date:  2019-12-26       Impact factor: 2.183
  3 in total

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