Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions-Reference-Cited by-同舟云学术

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

Published:2016-08 Issue:2 Volume:99 Page:430-436
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pigors Manuela,Sarig Ofer,Heinz Lisa,Plagnol Vincent,Fischer Judith,Mohamad Janan,Malchin Natalia,Rajpopat Shefali,Kharfi Monia,Lestringant Giles G.,Sprecher Eli,Kelsell David P.,Blaydon Diana C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Proteases and proteomics: cutting to the core of human skin pathologies;de Veer;Proteomics Clin. Appl.,2014

2. Proteases: common culprits in human skin disorders;de Veer;Trends Mol. Med.,2014

3. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis;Kubo;Am. J. Hum. Genet.,2013

4. New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis;Yin;J. Invest. Dermatol.,2014

5. Association analyses identify six new psoriasis susceptibility loci in the Chinese population;Sun;Nat. Genet.,2010

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diagnostic and therapeutic value of human serpin family proteins;Biomedicine & Pharmacotherapy;2024-06

2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

3. Genetic Blistering Diseases;Rook's Textbook of Dermatology;2024-02-20

4. Proteolytic and Antiproteolytic Activity in the Skin: Gluing the Pieces Together;Journal of Investigative Dermatology;2023-10

5. Chromosome-level Dinobdella ferox genome provided a molecular model for its specific parasitism;Parasites & Vectors;2023-09-11