Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 [0.03%]
与I型神经纤维瘤病相关的恶性外周神经鞘肿瘤的分子异质性
Laura Thomas,Victor-Felix Mautner,David N Cooper et al.
Laura Thomas et al.
Neurofibromatosis type-1 (NF1), resulting from NF1 gene loss of function, is characterized by an increased risk of developing benign and malignant peripheral nerve sheath tumors (MPNSTs). Whereas the cellular heterogeneity of NF1-associated...
Michael A Bauer,Daniel Berleant
Michael A Bauer
We live in an age of access to more information than ever before. This can be a double-edged sword. Increased access to information allows for more informed and empowered researchers, while information overload becomes an increasingly serio...
Identification of functional DNA variants in the constitutive promoter region of MDM2 [0.03%]
鉴定MDM2构成型启动子区域的功能DNA变异体
Marie-Eve Lalonde,Manon Ouimet,Mathieu Larivière et al.
Marie-Eve Lalonde et al.
Although mutations in the oncoprotein murine double minute 2 (MDM2) are rare, MDM2 gene overexpression has been observed in several human tumors. Given that even modest changes in MDM2 levels might influence the p53 tumor suppressor signali...
Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses [0.03%]
正常晶状体和白内障晶状体的基因表达模式（微阵列和已知序列特征）
Konstantinos Sousounis,Panagiotis A Tsonis
Konstantinos Sousounis
In this contribution, we have examined the patterns of gene expression in normal and cataractous lenses as presented in five different papers using microarrays and expressed sequence tags. The purpose was to evaluate unique and common patte...
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics [0.03%]
遗传机制和年龄相关性黄斑变性：常见变异、罕见变异、拷贝数变化、表观遗传学及线粒体遗传学
Melissa M Liu,Chi-Chao Chan,Jingsheng Tuo
Melissa M Liu
Age-related macular degeneration (AMD) is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has implicated numerous genomic re...
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? [0.03%]
神经纤维瘤病Ⅰ型(NF1)的基因型和表现型的关系：NF1剪切位点突变患者出现肿瘤并发症的风险增大？
Adila Alkindy,Nadia Chuzhanova,Usha Kini et al.
Adila Alkindy et al.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of ...
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care [0.03%]
"去伪存真——高通量基因组技术对人类遗传学和医疗保健的影响"
Angus J Clarke,David N Cooper,Michael Krawczak et al.
Angus J Clarke et al.
This report is of a round-table discussion held in Cardiff in September 2009 for Cesagen, a research centre within the Genomics Network of the UK's Economic and Social Research Council. The meeting was arranged to explore ideas as to the li...
Conservation of the three-dimensional structure in non-homologous or unrelated proteins [0.03%]
非同源蛋白或无明显同源关系的蛋白质三维结构的保守性
Konstantinos Sousounis,Carl E Haney,Jin Cao et al.
Konstantinos Sousounis et al.
In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger...
Vasilis Vasiliou,Daniel W Nebert
Vasilis Vasiliou
Editorial
Human genomics. 2012 Jul 5;6(1):1. DOI:10.1186/1479-7364-6-1 2012
A new era in the discovery of de novo mutations underlying human genetic disease [0.03%]
从头突变研究的新时代：解析人类遗传疾病的新型基因组学工具
Chee-Seng Ku,Vasilis Vasiliou,David N Cooper
Chee-Seng Ku