金德勒综合征：伊朗家族中FERMT1基因突变谱 - Suppr

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

作者信息

Youssefian Leila, Vahidnezhad Hassan, Barzegar Mohammadreza, Li Qiaoli, Sotoudeh Soheila, Yazdanfar Ameneh, Ehsani Amir Hooshang, Kajbafzadeh Abdol-Mohammad, Mozafari Nikoo, Ebrahimi Daryani Nasser, Agha-Hosseini Farzaneh, Zeinali Sirous, Uitto Jouni

机构信息

Tehran University of Medical Sciences, Tehran, Iran; Thomas Jefferson University, Philadelphia, PA, USA.

Thomas Jefferson University, Philadelphia, PA, USA; Pasteur Institute of Iran, Tehran, Iran.

出版信息

J Invest Dermatol. 2015 May;135(5):1447-1450. doi: 10.1038/jid.2015.9. Epub 2015 Jan 19.

DOI:10.1038/jid.2015.9

PMID:25599393

Abstract

摘要

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The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.金德勒综合征：伊朗家族中FERMT1基因突变谱

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本文引用的文献

FERMT1 promoter mutations in patients with Kindler syndrome.Kindler综合征患者的FERMT1启动子突变

Clin Genet. 2015 Sep;88(3):248-54. doi: 10.1111/cge.12490. Epub 2014 Oct 7.

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.遗传性大疱性表皮松解症：诊断和分类的更新建议。

J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29.

New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.FERMT1基因新的基因内和启动子区域缺失突变突显了Kindler综合征的遗传同质性。

Clin Exp Dermatol. 2014 Apr;39(3):361-7. doi: 10.1111/ced.12222.

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.Kindler 综合征：FERMT1 突变谱的扩展及自然病史。

Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20.

Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: Case report and literature review.Kindler综合征患者手部侵袭性鳞状细胞癌：病例报告及文献复习

Can J Plast Surg. 2010 Fall;18(3):e41-3.

Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.Kindler 综合征的轻度临床表型与延迟诊断和皮肤癌相关。

Dermatology. 2010;221(4):309-12. doi: 10.1159/000320235. Epub 2010 Oct 11.

Kindler syndrome.金德勒综合征。

Dermatol Clin. 2010 Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013.

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.角蛋白细胞中RhoGTP酶介导的片状伪足形成需要Kindlin-1。

Am J Pathol. 2009 Oct;175(4):1442-52. doi: 10.2353/ajpath.2009.090203. Epub 2009 Sep 17.

A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome.一个患有Kindler综合征的中国家庭中，FERMT1（KIND1）基因发生了一种新的3017碱基对缺失突变。

Br J Dermatol. 2009 May;160(5):1119-22. doi: 10.1111/j.1365-2133.2009.09052.x. Epub 2009 Mar 9.

Kindler syndrome: report of three cases in a family and a brief review.金德勒综合征：一家系三例报告及简要综述

Int J Dermatol. 2009 Feb;48(2):145-9. doi: 10.1111/j.1365-4632.2009.03936.x.

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The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

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