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Literature DB >> 28112794

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

T Takeichi^1,2, T Nomura³, H Takama⁴, M Kono¹, K Sugiura⁵, D Watanabe⁴, H Shimizu³, M A Simpson⁶, J A McGrath², M Akiyama¹.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2017 PMID： 28112794 DOI： 10.1111/bjd.15315

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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7 in total

1. Ichthyosis molecular fingerprinting shows profound T_H17 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. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

Authors: Takuya Takeichi; Tetsuya Hirabayashi; Yuki Miyasaka; Akane Kawamoto; Yusuke Okuno; Shijima Taguchi; Kana Tanahashi; Chiaki Murase; Hiroyuki Takama; Kosei Tanaka; William E Boeglin; M Wade Calcutt; Daisuke Watanabe; Michihiro Kono; Yoshinao Muro; Junko Ishikawa; Tamio Ohno; Alan R Brash; Masashi Akiyama
Journal: J Clin Invest Date: 2020-02-03 Impact factor: 14.808

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

1. Ichthyosis molecular fingerprinting shows profound T_H17 skewing and a unique barrier genomic signature.

2. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

3. Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Review 4. Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Review 5. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Review 6. Epidermolytic hyperkeratosis: clinical update.

Review 7. Recent advances in understanding inherited disorders of keratinization.

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

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

2. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

3. Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Review 4. Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Review 5. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Review 6. Epidermolytic hyperkeratosis: clinical update.

Review 7. Recent advances in understanding inherited disorders of keratinization.

1. Ichthyosis molecular fingerprinting shows profound T_H17 skewing and a unique barrier genomic signature.