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Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.

作者信息

Ralser D J, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz P M, Sprecher E, Kreiß M, Betz R C

机构信息

Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.

Institute for Genomic Statistics and Bioinformatics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.

出版信息

Br J Dermatol. 2020 Oct;183(4):756-757. doi: 10.1111/bjd.19123. Epub 2020 May 26.

DOI:10.1111/bjd.19123
PMID:32282935
Abstract
摘要

相似文献

1
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Br J Dermatol. 2020 Oct;183(4):756-757. doi: 10.1111/bjd.19123. Epub 2020 May 26.
2
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.内格利-弗朗切斯科蒂-雅达松综合征与网状色素性皮病:同一KRT14移码变异患者家系内的表型重叠
Br J Dermatol. 2019 Oct;181(4):864-866. doi: 10.1111/bjd.17997. Epub 2019 Jul 15.
3
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7.
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Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
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Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.将纳杰利-弗朗切斯科蒂-雅达索恩综合征精细定位到17号染色体17q11.2-q21上的一个6厘摩区间,并对候选基因进行研究。
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[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].[内格利-弗朗切斯科蒂-雅达松综合征与网状色素沉着性皮病。两种与编码角蛋白14的显性基因突变相关的等位基因外胚层发育异常]
Ann Dermatol Venereol. 2007 Jun-Jul;134(6-7):595. doi: 10.1016/s0151-9638(07)89283-0.
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Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21.
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Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.
J Am Acad Dermatol. 1994 Nov;31(5 Pt 1):830. doi: 10.1016/s0190-9622(09)80068-6.
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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.内格利-弗朗切斯科蒂-雅达松综合征和网状色素性皮病:由KRT14显性突变引起的两种等位基因外胚层发育异常。
Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25.
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KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.角蛋白14单倍剂量不足会导致角质形成细胞对肿瘤坏死因子-α诱导的凋亡敏感性增加,并引发内格利-弗朗切斯科蒂-雅达松综合征。
J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29.

引用本文的文献

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Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.内格利-弗朗切斯科蒂-雅达松综合征:病例研究的系统评价
Front Med (Lausanne). 2025 Feb 28;12:1453172. doi: 10.3389/fmed.2025.1453172. eCollection 2025.
2
Inherited Reticulate Pigmentary Disorders.遗传性网状色素沉着障碍。
Genes (Basel). 2023 Jun 20;14(6):1300. doi: 10.3390/genes14061300.
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Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.角蛋白作为单纯型大疱性表皮松解症的炎症触发点。
Int J Mol Sci. 2021 Nov 18;22(22):12446. doi: 10.3390/ijms222212446.