[HTML][HTML] Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases

AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …

Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

High-throughput identification of human SNPs affecting regulatory element activity

J van Arensbergen, L Pagie, VD FitzPatrick… - Nature …, 2019 - nature.com
Most of the millions of SNPs in the human genome are non-coding, and many overlap with
putative regulatory elements. Genome-wide association studies (GWAS) have linked many …

Ultra‐Fast Single‐Nucleotide‐Variation Detection Enabled by Argonaute‐Mediated Transistor Platform

D Kong, S Zhang, M Guo, S Li, Q Wang… - Advanced …, 2024 - Wiley Online Library
Abstract “Test‐and‐go” single‐nucleotide variation (SNV) detection within several minutes
remains challenging, especially in low‐abundance samples, since existing methods face a …

Superwettable surface engineering in controlling cell adhesion for emerging bioapplications

H Cui, W Wang, L Shi, W Song, S Wang - Small Methods, 2020 - Wiley Online Library
The dynamic liquid environment of live cells makes it necessary to consider the surface
wettability when designing biomaterials and related devices. Especially superwettability, as …

Extensive androgen receptor enhancer heterogeneity in primary prostate cancers underlies transcriptional diversity and metastatic potential

J Kneppers, TM Severson, JC Siefert, P Schol… - Nature …, 2022 - nature.com
Androgen receptor (AR) drives prostate cancer (PCa) development and progression. AR
chromatin binding profiles are highly plastic and form recurrent programmatic changes that …

Discrimination of single-nucleotide variants based on an allele-specific hybridization chain reaction and smartphone detection

A Lázaro, A Maquieira, LA Tortajada-Genaro - ACS sensors, 2022 - ACS Publications
Massive DNA testing requires novel technologies to support a sustainable health system. In
recent years, DNA superstructures have emerged as alternative probes and transducers …

2-hydr_ensemble: lysine 2-hydroxyisobutyrylation identification with ensemble method

W Bao, B Yang, B Chen - Chemometrics and Intelligent Laboratory Systems, 2021 - Elsevier
Lysine 2-hydroxyisobutyrylation is a novel detected post translational modification type in
the research of proteomics. Such modification research may be helpful to several diseases' …

PNA-pdx: versatile peptide nucleic acid-based detection of nucleic acids and SNPs

W Jiang, R Aman, Z Ali, GS Rao… - Analytical Chemistry, 2023 - ACS Publications
Monitoring diseases caused by pathogens or by mutations in DNA sequences requires
accurate, rapid, and sensitive tools to detect specific nucleic acid sequences. Here, we …

Comprehensive map** of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits

J Wan, A van Ouwerkerk, JC Mouren… - Nucleic Acids …, 2024 - academic.oup.com
There is growing evidence that a wide range of human diseases and physiological traits are
influenced by genetic variation of cis-regulatory elements. We and others have shown that a …