MicroRNAs as therapeutic targets in cardiovascular disease

B Laggerbauer, S Engelhardt - The Journal of clinical …, 2022 - Am Soc Clin Investig
The discovery of microRNAs and their role in diseases was a breakthrough that inspired
research into microRNAs as drug targets. Cardiovascular diseases are an area in which …

Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

The genetic and biochemical determinants of mRNA degradation rates in mammals

V Agarwal, DR Kelley - Genome biology, 2022 - Springer
Background Degradation rate is a fundamental aspect of mRNA metabolism, and the factors
governing it remain poorly characterized. Understanding the genetic and biochemical …

3′ UTR heterogeneity and cancer progression

JJ Chan, H Tabatabaeian, Y Tay - Trends in Cell Biology, 2023 - cell.com
The majority of human mRNAs generate alternative 3′ untranslated regions (UTRs)
through various processes, including RNA modifications such as RNA editing, m 6 A …

Machine learning for designing next-generation mRNA therapeutics

SM Castillo-Hair, G Seelig - Accounts of Chemical Research, 2021 - ACS Publications
Conspectus Over just the last 2 years, mRNA therapeutics and vaccines have undergone a
rapid transition from an intriguing concept to real-world impact. However, whereas some …

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

QS Wang, T Hasegawa, H Namkoong, R Saiki… - Nature Genetics, 2024 - nature.com
Studying the genetic regulation of protein expression (through protein quantitative trait loci
(pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA …

The functional and evolutionary impacts of human-specific deletions in conserved elements

JR Xue, A Mackay-Smith, K Mouri, MF Garcia… - Science, 2023 - science.org
Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …

Focus on your locus with a massively parallel reporter assay

JC McAfee, JL Bell, O Krupa, N Matoba… - Journal of …, 2022 - Springer
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

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 …