What do we know about IDH1/2 mutations so far, and how do we use it?

C Horbinski - Acta neuropathologica, 2013 - Springer
Whole genome analyses have facilitated the discovery of clinically relevant genetic
alterations in a variety of diseases, most notably cancer. A prominent example of this was …

Crosstalk of genetic variants, allele-specific DNA methylation, and environmental factors for complex disease risk

H Wang, D Lou, Z Wang - Frontiers in genetics, 2019 - frontiersin.org
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …

An aberrant SREBP-dependent lipogenic program promotes metastatic prostate cancer

M Chen, J Zhang, K Sampieri, JG Clohessy… - Nature …, 2018 - nature.com
Lipids, either endogenously synthesized or exogenous, have been linked to human cancer.
Here we found that PML is frequently co-deleted with PTEN in metastatic human prostate …

An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element

MR Mansour, BJ Abraham, L Anders, A Berezovskaya… - Science, 2014 - science.org
In certain human cancers, the expression of critical oncogenes is driven from large
regulatory elements, called super-enhancers, that recruit much of the cell's transcriptional …

Ultrastable gold substrates for electron cryomicroscopy

CJ Russo, LA Passmore - Science, 2014 - science.org
Despite recent advances, the structures of many proteins cannot be determined by electron
cryomicroscopy because the individual proteins move during irradiation. This blurs the …

Regulation of the Human Telomerase Gene TERT by Telomere Position Effect—Over Long Distances (TPE-OLD): Implications for Aging and Cancer

W Kim, AT Ludlow, J Min, JD Robin, G Stadler… - PLoS …, 2016 - journals.plos.org
Telomerase is expressed in early human development and then becomes silenced in most
normal tissues. Because~ 90% of primary human tumors express telomerase and generally …

Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities

DW Craig, JA O'Shaughnessy, JA Kiefer, J Aldrich… - Molecular cancer …, 2013 - AACR
Triple-negative breast cancer (TNBC) is characterized by the absence of expression of
estrogen receptor, progesterone receptor, and HER-2. Thirty percent of patients recur after …

Targetable Signaling Pathway Mutations Are Associated with Malignant Phenotype in IDH-Mutant Gliomas

H Wakimoto, S Tanaka, WT Curry, F Loebel, D Zhao… - Clinical cancer …, 2014 - AACR
Purpose: Isocitrate dehydrogenase (IDH) gene mutations occur in low-grade and high-grade
gliomas. We sought to identify the genetic basis of malignant phenotype heterogeneity in …

Defining essential genes for human pluripotent stem cells by CRISPR–Cas9 screening in haploid cells

A Yilmaz, M Peretz, A Aharony, I Sagi… - Nature cell biology, 2018 - nature.com
The maintenance of pluripotency requires coordinated expression of a set of essential
genes. Using our recently established haploid human pluripotent stem cells (hPSCs), we …

DNA methylation is required to maintain both DNA replication timing precision and 3D genome organization integrity

Q Du, GC Smith, PL Luu, JM Ferguson, NJ Armstrong… - Cell Reports, 2021 - cell.com
DNA replication timing and three-dimensional (3D) genome organization are associated
with distinct epigenome patterns across large domains. However, whether alterations in the …