No evidence of skin blisters with human desmocollin-3 gene mutation.
作者信息
Payne Aimee S
出版信息
Am J Hum Genet. 2010 Feb 12;86(2):292; author reply 292. doi: 10.1016/j.ajhg.2009.09.021.
Abstract
摘要
相似文献
1
No evidence of skin blisters with human desmocollin-3 gene mutation.没有证据表明人类桥粒芯胶蛋白-3基因突变会导致皮肤水泡。
Am J Hum Genet. 2010 Feb 12;86(2):292; author reply 292. doi: 10.1016/j.ajhg.2009.09.021.
2
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.人类桥粒芯胶蛋白3（DSC3）基因中的纯合无义突变是遗传性少毛症和复发性皮肤水疱的基础。
Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17.
3
[Homozygous nonsense mutations in the desmocollin-3 gene and hypotrichosis with recurrent vesicles].桥粒芯胶蛋白-3基因纯合无义突变与复发性水疱性少毛症
Ann Dermatol Venereol. 2010 Jun-Jul;137(6-7):495. doi: 10.1016/j.annder.2010.03.016. Epub 2010 Apr 22.
4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.与桥粒基因桥粒芯胶蛋白-2突变相关的致心律失常性右室发育不良/心肌病
Am J Hum Genet. 2006 Nov;79(5):978-84. doi: 10.1086/509122. Epub 2006 Sep 27.
5
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.DSC3基因的纯合无义突变导致皮肤脆弱和毛发稀少。
J Invest Dermatol. 2020 Jun;140(6):1285-1288. doi: 10.1016/j.jid.2019.10.015. Epub 2019 Nov 29.
6
Changing pattern of desmocollin 3 expression accompanies epidermal organisation during skin development.桥粒芯胶蛋白3表达模式的变化伴随着皮肤发育过程中的表皮组织形成。
Dev Dyn. 1997 Nov;210(3):315-27. doi: 10.1002/(SICI)1097-0177(199711)210:3<315::AID-AJA11>3.0.CO;2-9.
7
Sporadic Kindler syndrome with a novel mutation.伴有新突变的散发性Kindler综合征
An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):212-5. doi: 10.1590/abd1806-4841.20132173.
8
Loss of desmocollin 3 in mice leads to epidermal blistering.小鼠中桥粒芯胶蛋白3的缺失会导致表皮起泡。
J Cell Sci. 2008 Sep 1;121(Pt 17):2844-9. doi: 10.1242/jcs.031518. Epub 2008 Aug 5.
9
Identification of the ATG initiation codon in human type I desmocollin.
J Invest Dermatol. 1994 May;102(5):822.
10
Disease model: heritable skin blistering.
Trends Mol Med. 2001 Sep;7(9):422-4. doi: 10.1016/s1471-4914(01)02095-0.
引用本文的文献
1
Autoimmunity to desmocollin 3 in pemphigus vulgaris.寻常型天疱疮中桥粒芯糖蛋白 3 的自身免疫。
Am J Pathol. 2010 Dec;177(6):2724-30. doi: 10.2353/ajpath.2010.100483. Epub 2010 Oct 15.
本文引用的文献
1
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.人类桥粒芯胶蛋白3（DSC3）基因中的纯合无义突变是遗传性少毛症和复发性皮肤水疱的基础。
Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17.
2
Assessment of splice variant-specific functions of desmocollin 1 in the skin.皮肤中桥粒芯胶蛋白1剪接变体特异性功能的评估。
Mol Cell Biol. 2004 Jan;24(1):154-63. doi: 10.1128/MCB.24.1.154-163.2004.
3
Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation.缺乏桥粒芯胶蛋白1的小鼠表现出表皮脆弱，伴有屏障缺陷和异常分化。
J Cell Biol. 2001 Nov 26;155(5):821-32. doi: 10.1083/jcb.200105009. Epub 2001 Nov 19.
Zotero 插件