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Epithelial barrier dysfunction in desmoglein-1 deficiency.桥粒芯糖蛋白-1缺乏时的上皮屏障功能障碍。
J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27.
2
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.桥粒芯糖蛋白 1 缺乏导致严重的皮炎、多种过敏和代谢消耗。
Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25.
3
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.通过研究 SAM 综合征揭示桥粒芯糖蛋白 1 在缝隙连接周转中的作用。
J Invest Dermatol. 2020 Mar;140(3):556-567.e9. doi: 10.1016/j.jid.2019.08.433. Epub 2019 Aug 26.
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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.由桥粒斑蛋白N端plakin结构域的新突变引起的严重皮炎、多种过敏和代谢消耗综合征。
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Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).一名患有非典型SAM综合征（严重皮炎、多种过敏、代谢性消瘦）的患者，其DSG1基因存在显性和隐性突变的复合杂合性。
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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.全外显子组测序鉴定出与轻度脂溢性皮炎样掌跖角化病综合征相关的新型常染色体隐性桥粒芯糖蛋白1突变。
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Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.桥粒芯糖蛋白 1 缺失症伴发掌跖角化过度症、皮炎和多发性过敏。
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SAM syndrome is characterized by extensive phenotypic heterogeneity.SAM 综合征的特点是表型广泛异质性。
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Decreased PAX6 and DSG1 Protein Expression in Corneal Epithelium of Patients with Epithelial Basal Membrane Dystrophy, Salzmann Nodular Degeneration, and Pterygium.上皮基底膜营养不良、萨尔茨曼结节性变性和翼状胬肉患者角膜上皮中PAX6和DSG1蛋白表达降低。
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Proton pump inhibitors modulate esophageal epithelial barrier function and crosstalk with eosinophils.质子泵抑制剂可调节食管上皮屏障功能并与嗜酸性粒细胞发生相互作用。
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Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration.黑素瘤细胞在角质细胞中抑制桥粒芯糖蛋白 1 以促进肿瘤细胞迁移。
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本文引用的文献

1
ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.ERBIN缺乏将人类特应性中的STAT3和TGF-β信号通路缺陷联系起来。
J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26.
2
Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).一名患有非典型SAM综合征（严重皮炎、多种过敏、代谢性消瘦）的患者，其DSG1基因存在显性和隐性突变的复合杂合性。
J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e144-e146. doi: 10.1111/jdv.13967. Epub 2016 Nov 7.
3
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.新型纯合桥粒芯糖蛋白-1基因突变致中国一家族严重皮炎、多种过敏及代谢消耗综合征的报告
J Dermatol. 2016 Oct;43(10):1201-1204. doi: 10.1111/1346-8138.13431.
4
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.显性新生DSP突变导致红斑角化病-心肌病综合征。
Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24.
5
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.全外显子组测序鉴定出与轻度脂溢性皮炎样掌跖角化病综合征相关的新型常染色体隐性桥粒芯糖蛋白1突变。
Br J Dermatol. 2016 Feb;174(2):444-8. doi: 10.1111/bjd.14079. Epub 2015 Nov 19.
6
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.由桥粒斑蛋白N端plakin结构域的新突变引起的严重皮炎、多种过敏和代谢消耗综合征。
J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12.
7
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.线状回旋性鱼鳞病作为Netherton综合征的唯一临床表现
Acta Derm Venereol. 2015 Jul;95(6):720-4. doi: 10.2340/00015555-2075.
8
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.桥粒芯糖蛋白 1 缺失症伴发掌跖角化过度症、皮炎和多发性过敏。
Br J Dermatol. 2015 Jan;172(1):257-61. doi: 10.1111/bjd.13247. Epub 2014 Nov 28.
9
Desmoglein-1 regulates esophageal epithelial barrier function and immune responses in eosinophilic esophagitis.桥粒芯糖蛋白-1调节嗜酸性粒细胞性食管炎中的食管上皮屏障功能和免疫反应。
Mucosal Immunol. 2014 May;7(3):718-29. doi: 10.1038/mi.2013.90. Epub 2013 Nov 13.
10
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.桥粒芯糖蛋白 1 缺乏导致严重的皮炎、多种过敏和代谢消耗。
Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25.

Epithelial barrier dysfunction in desmoglein-1 deficiency.

作者信息

Polivka Laura, Hadj-Rabia Smail, Bal Elodie, Leclerc-Mercier Stéphanie, Madrange Marine, Hamel Yamina, Bonnet Damien, Mallet Stéphanie, Lepidi Hubert, Ovaert Caroline, Barbet Patrick, Dupont Christophe, Neven Bénédicte, Munnich Arnold, Godsel Lisa M, Campeotto Florence, Weil Robert, Laplantine Emmanuel, Marchetto Sylvie, Borg Jean-Paul, Weis William I, Casanova Jean-Laurent, Puel Anne, Green Kathleen J, Bodemer Christine, Smahi Asma

机构信息

Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

出版信息

J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27.

DOI:10.1016/j.jaci.2018.04.007
PMID:29705242
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6078820/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8849/6078820/2a17657db96a/nihms980055f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8849/6078820/89592a30ee3d/nihms980055f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8849/6078820/2a17657db96a/nihms980055f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8849/6078820/89592a30ee3d/nihms980055f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8849/6078820/2a17657db96a/nihms980055f2.jpg