Evidence map›Paper›PMID 39323215›Full record

ArticleSkin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)2024

Establishment of a Mouse Model for Porokeratosis Due to Mevalonate Diphosphate Decarboxylase Deficiency.

Kexin Peng, Wenghong Wong, Qiaoan Zhang, Yumeng La, Zhen Tian, Ruilin Sun, Loksi Ho, Kaihang Yang, Jiewen Pan, Jing Luan and 2 more

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Article in Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Kexin PengDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0003-1610-9011
Wenghong WongDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Qiaoan ZhangDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Yumeng LaDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Zhen TianDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0002-3847-598X
Ruilin SunShanghai Model Organisms Center Inc, Shanghai, China.
Loksi HoDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Kaihang YangDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Jiewen PanDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Jing LuanDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.
Zhenmin NiuShanghai-MOST Key Laboratory of Health and Disease Genomics and Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Zhenghua ZhangDepartment of Dermatology, Huashan Hospital, Shanghai Institute of Dermatology, Fudan University, Shanghai, China.

Funding

Clinical Research plan of Shanghai Shenkang Hospital Development Center SHDC2202230National Natural Science Foundation of China 81974471National Natural Science Foundation of China 82373496Natural Science Foundation of Shanghai 20ZR1440100Shanghai Municipal Commission of Health and Family Planning 2023ZZ02018Shanghai Municipal Key Clinical Specialty shslczdzk01002
6 · The paper itself

Abstract

introductionPorokeratosis (PK) is an autoinflammatory keratinization disease (AIKD) characterized by circular or annular skin lesions with a hyperkeratotic rim, pathologically shown as the cornoid lamella. Four genes that cause PK are associated with the mevalonate (MV) pathway. In Chinese PK patients, mevalonate diphosphate decarboxylase (MVD) is the most common causative gene. The lack of an animal model has greatly limited research on PK pathogenesis. MATERIALS AND

methodsIn this research, we constructed K14-CreER

resultsSkin lesions appeared following Mvd deficiency, and pathological examination revealed the characteristic cornoid lamella, as well as cutaneous inflammation. Furthermore, we observed elevated levels of IL-17A and IL-1β, and a decreased Loricrin level in epidermal Mvd-deficient mice. Compared with the wild-type (WT) group, Mvd deficiency activated the expression of lipid metabolism-related proteins.

conclusionWe developed the first mouse model for PK research, enabling further studies on disease development and treatment approaches.

Indexed as

Carboxy-LyasesDisease Models, AnimalPorokeratosisAnimalsInterleukin-17Interleukin-1betaMiceMice, KnockoutCarboxy-LyasesInterleukin-17Interleukin-1betapyrophosphomevalonate decarboxylaseCre‐LoxPmevalonate diphosphate decarboxylasemouse modelporokeratosis

Identifiers

PMID39323215
PMCPMC11424814

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.