Abstract To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify their functional effects.
Abstract Metastatic prostate cancer (PCa) poses a significant therapeutic challenge with high mortality rates. Utilizing CRISPR-Cas9 in vivo, we target five potential tumor suppressor genes
Abstract Whereas oncogenes can potentially be inhibited with small molecules, the loss of tumour suppressors is more common and is problematic because the tumour-suppressor proteins
Abstract Philadelphia chromosome–positive B cell acute lymphoblastic leukemia (B-ALL), characterized by the BCR::ABL1 fusion gene, remains a poor prognosis cancer needing new therapeutic approaches. Transcriptomic profiling identified
Abstract Horizontal gene transfer (HGT) and gene duplication are often considered as separate mechanisms driving the evolution of new functions. However, the mobile genetic elements
Abstract Understanding how microbial pathogens adapt to treatments, humans and clinical environments is key to infer mechanisms of virulence, transmission and drug resistance. This may
Highlights Summary The cytoplasm is highly compartmentalized, but the extent and consequences of subcytoplasmic mRNA localization in non-polarized cells are largely unknown. We determined mRNA
Abstract The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse
Highlights Summary During the progression of type 1 diabetes (T1D), β cells are exposed to significant stress and, therefore, require adaptive responses to survive. The
Abstract Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have
Abstract Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear.
Significance Neurological diseases are often thought to be irreversible, including hearing loss. In this study, we found that one type of hearing loss can be
Editor’s summary Skin pigmentation provides crucial protection from the DNA damage caused by sun exposure, but the production of melanin in the skin and hair
A comprehensive analysis of more than 100,000 colorectal cancer (CRC) cases has identified upwards of 100 new genetic risk factors strongly linked with the disease.
Abstract Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium,
Abstract The notion that mobile units of nucleic acid known as transposable elements can operate as genomic controlling elements was put forward over six decades
bstract Genetic variants in YWHAZ contribute to psychiatric disorders such as autism spectrum disorder and schizophrenia, and have been related to an impaired neurodevelopment in humans and
New research by scientists at North Carolina State University (NC State) has demonstrated that genes are capable of identifying and responding to coded information in
Abstract Uterine sensitization–associated gene-1 (USAG-1) deficiency leads to enhanced bone morphogenetic protein (BMP) signaling, leading to supernumerary teeth formation. Furthermore, antibodies interfering with binding of USAG-1
Highlights •Loss of PTEN function cooperates with oncogenic PIK3CA in mammary tumorigenesis •Targeted AKT inhibition suppresses growth of PTEN and PI3K mutant mammary organoids •Loss of PTEN
Fetal DNA that is circulating in the blood of pregnant women is frequently extracted noninvasively and screened for common chromosome aneuploidies that cause disease such
An international team of researchers, including scientists at the Royal College of Surgeons in Ireland (RCSI), has discovered 11 new genes associated with epilepsy. The
One of biology’s great mysteries is how a single fertilized egg gives rise to the multitude of cell types, tissues, and organs that fit together
Substantial progress on understanding the basic principles and the molecular underpinnings of regeneration in the flatworm and salamander, including the recent sequencing of their genomes,
With a large swath of the population entering its senior years, the number of Alzheimer’s disease (AD) cases are expected to skyrocket, placing a tremendous
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