Hypoxia-driven splicing into noncoding isoforms regulates the DNA damage response [0.03%]
缺氧驱动的剪接为非编码转录物调控DNA损伤修复响应
Danish Memon,Keren Dawson,Christopher Sf Smowton et al.
Danish Memon et al.
Tumour hypoxia is associated with poor patient outcome and resistance to therapy. It is accompanied by widespread changes in gene expression mediated largely through the transcription factors HIF1/2/3α. Hypoxia impacts on multiple pathways...
Stephanie Om Dyke,Edward S Dove,Bartha M Knoppers
Stephanie Om Dyke
Greater sharing of potentially sensitive data raises important ethical, legal and social issues (ELSI), which risk hindering and even preventing useful data sharing if not properly addressed. One such important issue is respecting the priva...
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy [0.03%]
PD-L1拷贝数增加的基底细胞癌脑转移疗效良好的抗PD-1治疗案例报告
Sadakatsu Ikeda,Aaron M Goodman,Philip R Cohen et al.
Sadakatsu Ikeda et al.
Metastatic basal cell carcinomas are rare malignancies harbouring Hedgehog pathway alterations targetable by SMO antagonists (vismodegib/sonidegib). We describe, for the first time, the molecular genetics and response of a patient with Hedg...
Case Reports
NPJ genomic medicine. 2016:1:16037. DOI:10.1038/npjgenmed.2016.37 2016
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype [0.03%]
染色体21q22.11上一处从头2.78Mb重复序列使候选基因部分涉及21三体表型
James D Weisfeld-Adams,Amanda K Tkachuk,Kenneth N Maclean et al.
James D Weisfeld-Adams et al.
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The hypothesis that the characteristic DS clinical features are due to a single DS critic...
Case Reports
NPJ genomic medicine. 2016:1:16003. DOI:10.1038/npjgenmed.2016.3 2016
Ryan K C Yuen,Daniele Merico,Hongzhi Cao et al.
Ryan K C Yuen et al.
De novo mutations (DNMs) are important in Autism Spectrum Disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole genome sequencing (WGS) of 200 ASD parent-child trios and cha...
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions [0.03%]
整合基因组分析揭示埋藏在启动子和内含子区域的疾病特异多态性的下游生物学效应者
Haiquan Li,Ikbel Achour,Lisa Bastarache et al.
Haiquan Li et al.
Functionally altered biological mechanisms arising from disease-associated polymorphisms, remain difficult to characterize when those variants are intergenic, or, fall between genes. We sought to identify shared downstream mechanisms by whi...
Jacquelyn Y Taylor,Michelle L Wright,David Housman
Jacquelyn Y Taylor