Novel and founder variants of <scp> <i>SERPINA12</i> </scp> in Chinese patients with autosomal recessive palmoplantar keratoderma-Reference-Cited by-同舟云学术

Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma

Published:2022-05-06 Issue:2 Volume:187 Page:267-270
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Liu Yihe¹^ORCID,Tan Yingjian¹^ORCID,Liu Juan²³^ORCID,Song Zhongya¹^ORCID,Hu Linghan¹^ORCID,Mo Ran¹^ORCID,Chen Zhiming¹^ORCID,Yang Yong¹³^ORCID

Affiliation:

1. Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College Nanjing Jiangsu China

2. Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing Jiangsu China

3. Center for Global Health, School of Public Health Nanjing Medical University Nanjing Jiangsu China

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.21064

Reference8 articles.

1. Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature*

2. Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis”

3. A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type

4. Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease

5. Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

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1. Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis;British Journal of Dermatology;2024-03-26

2. SERPINA12‐associated palmoplantar keratoderma may be prevalent across different populations;Journal of the European Academy of Dermatology and Venereology;2024-01-24

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

4. A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma;Journal of the European Academy of Dermatology and Venereology;2023-09-22

5. Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients;The Journal of Dermatology;2022-11