Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

MicroRNAs in body fluids—the mix of hormones and biomarkers

MA Cortez, C Bueso-Ramos, J Ferdin… - Nature reviews Clinical …, 2011 - nature.com
Since the discovery of microRNAs (miRNAs), the study of these small noncoding RNAs has
steadily increased and more than 10,000 papers have already been published. The great …

miRNA dysregulation in breast cancer

L Mulrane, SF McGee, WM Gallagher, DP O'Connor - Cancer research, 2013 - AACR
Abstract miRNAs have emerged, in the last decade, as key players in the carcinogenic
process, with many candidates identified as playing important roles in many aspects of …

Genetic polymorphisms and microRNAs: new direction in molecular epidemiology of solid cancer

O Slaby, J Bienertova‐Vasku… - Journal of cellular …, 2012 - Wiley Online Library
Introduction• Classification of miRNA‐related SNPs‐SNPs in miRNA processing machinery‐
SNPs in pri‐, pre‐, mat‐miRNAs‐SNPs in miRNA‐binding sites• MiRNA‐related SNPs and …

Critical analysis of the potential for microRNA biomarkers in breast cancer management

CR Graveel, HM Calderone, JJ Westerhuis… - Breast cancer: targets …, 2015 - Taylor & Francis
Breast cancer is a complex and heterogeneous disease. Signaling by estrogen receptor
(ER), progesterone receptor (PR), and/or human EGF-like receptor 2 (HER2) is a main driver …

[HTML][HTML] Genomic variations in non-coding RNAs: structure, function and regulation

D Bhartiya, V Scaria - Genomics, 2016 - Elsevier
The last decade has seen tremendous improvements in the understanding of human
variations and their association with human traits and diseases. The availability of high …

An RNA editing/dsRNA binding-independent gene regulatory mechanism of ADARs and its clinical implication in cancer

L Qi, Y Song, THM Chan, H Yang, CH Lin… - Nucleic acids …, 2017 - academic.oup.com
Abstract Adenosine-to-inosine (A-to-I) RNA editing, catalyzed by Adenosine DeAminases
acting on double-stranded RNA (dsRNA)(ADAR), occurs predominantly in the 3 …

Effects of Common Polymorphisms rs11614913 in miR-196a2 and rs2910164 in miR-146a on Cancer Susceptibility: A Meta-Analysis

W Xu, J Xu, S Liu, B Chen, X Wang, Y Li, Y Qian… - PloS one, 2011 - journals.plos.org
Background MicroRNAs regulate gene expression at the post-transcriptional level and
involved in diverse biological and pathological processes, including tumorigenesis …

microRNAs miR-27a and miR-27b directly regulate liver dihydropyrimidine dehydrogenase expression through two conserved binding sites

SM Offer, GL Butterfield, CR Jerde, CC Fossum… - Molecular cancer …, 2014 - AACR
Dihydropyrimidine dehydrogenase (DPD, encoded by DPYD) is the rate-limiting enzyme in
the uracil catabolic pathway and has a pivotal role in the pharmacokinetics of the commonly …

Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South …

S Morales, F Gulppi, P Gonzalez-Hormazabal… - BMC genetics, 2016 - Springer
Background MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-
stranded RNAs capable of regulating gene expression by suppressing translation or …