Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
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常染色体显性多发性皮肤纤维瘤病理学中的凝血因子 XIII-A 亚基错义突变。
DOI：
10.1016/j.jid.2019.08.441
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Supsrisunjai C
中科院分区：
文献类型：
--
作者：
Supsrisunjai C
Dermatofibromas are common benign skin lesions, the etiology of which is poorly understood. We identified two unrelated pedigrees in which there was autosomal dominant transmission of multiple dermatofibromas. Whole exome sequencing revealed a rare shared heterozygous missense variant in theF13A1gene encoding factor XIII subunit A (FXIII-A), a transglutaminase involved in hemostasis, wound healing, tumor growth, and apoptosis. The variant (p.Lys679Met) has an allele frequency of 0.0002 and is predicted to be a damaging mutation. Recombinant human Lys679Met FXIII-A demonstrated reduced fibrin crosslinking activity in vitro. Of note, the treatment of fibroblasts with media containing Lys679Met FXIII-A led to enhanced adhesion, proliferation, and type I collagen synthesis. Immunostaining revealed co-localization between FXIII-A and α4β1 integrins, more prominently for Lys679Met FXIII-A than the wild type. In addition, both the α4β1 inhibitors and the mutation of the FXIII-A Isoleucine-Leucine-Aspartate-Threonine (ILDT) motif prevented Lys679Met FXIII-A-dependent proliferation and collagen synthesis of fibroblasts. Our data suggest that the Lys679Met mutation may lead to a conformational change in the FXIII-A protein that enhances α4-integrin binding and provides insight into an unexpected role for FXIII-A in the pathobiology of familial dermatofibroma.
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第54章.第十三因子缺乏症
DOI：
--
发表时间：
2010
期刊：
影响因子：
--
作者：
Diane Nugent Md and;Loan Hsieh
通讯作者：
Loan Hsieh
纹身内发生的皮肤纤维瘤：两例报告
影响因子：
1.7
作者：
N. Kluger;H. Cotten;Catherine Magana;L. Pinquier
通讯作者：
L. Pinquier
影响因子：
6.6
作者：
Isobe, T;Takahashi, H;Saito, Y
通讯作者：
Saito, Y
凝血因子 XIIIA 亚基错义突变影响因子 XIII 作用各个步骤的结构和功能
影响因子：
3.9
作者：
A. Thomas;A. Biswas;J. Dodt;H. Philippou;E. Hethershaw;H. Ensikat;V. Ivaškevičius;J. Oldenburg
通讯作者：
J. Oldenburg
眼睑皮肤纤维瘤：免疫组织化学诊断。
影响因子：
2
作者：
F. Jakobiec;F. Zakka;Y. Tu;S. Freitag
通讯作者：
S. Freitag