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A novel variant of in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation.

作者信息

Zhao Jingjing, Si Nuo, Yin Ningbei, Song Tao

机构信息

The Cleft and Palate Department of Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 33 Badachu Road, Shijingshan District, Beijing, 100144, China.

Research Center of Plastic Surgery Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100144, China.

出版信息

Genes Dis. 2025 Apr 15;12(6):101641. doi: 10.1016/j.gendis.2025.101641. eCollection 2025 Nov.

DOI:10.1016/j.gendis.2025.101641
PMID:40697990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12281163/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b4/12281163/708021eb813d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b4/12281163/708021eb813d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b4/12281163/708021eb813d/gr1.jpg

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1
A novel variant of in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation.家族性鳃-眼-面综合征病例中一种新的[具体基因或蛋白名称缺失]变体：来自结构生物信息学和分子动力学模拟的见解
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2
A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.172例鳃-眼-面综合征患者眼部表现的1例新病例及综合回顾
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Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.鳃-眼-面综合征的临床表现及听力损害情况：TFAP2A基因的一个新突变
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本文引用的文献

1
Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.TFAP2 转录因子特异性 DNA 序列基序识别的结构基础。
Nucleic Acids Res. 2023 Aug 25;51(15):8270-8282. doi: 10.1093/nar/gkad583.
2
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.一个主要累及眼部的鳃-眼-面综合征家族，与TFAP2A基因突变相关。
Ophthalmic Genet. 2012 Jun;33(2):100-6. doi: 10.3109/13816810.2011.634878. Epub 2011 Dec 22.
3
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
面-耳-眶-颌综合征的基因型-表型分析。
Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783.
4
Analysis of the DNA-binding and activation properties of the human transcription factor AP-2.人类转录因子AP-2的DNA结合及激活特性分析
Genes Dev. 1991 Apr;5(4):670-82. doi: 10.1101/gad.5.4.670.
5
Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins.AP-2中一个二聚化基序的表征及其在异源DNA结合蛋白中的功能。
Science. 1991 Mar 1;251(4997):1067-71. doi: 10.1126/science.1998122.