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Incremental data integration for tracking genotype-disease associations.
(2020-01)
Functional annotation of genes remains a challenge in fundamental biology and is a limiting factor for translational medicine. Computational approaches have been developed to process heterogeneous data into meaningful ...
Structural basis for a complex I mutation that blocks pathological ROS production.
(2021-01-29)
Mitochondrial complex I is central to the pathological reactive oxygen species (ROS) production that underlies cardiac ischemia-reperfusion (IR) injury. ND6-P25L mice are homoplasmic for a disease-causing mtDNA point ...
Mechanisms of ageing: growth hormone, dietary restriction, and metformin.
(2023-04)
Tackling the mechanisms underlying ageing is desirable to help to extend the duration and improve the quality of life. Life extension has been achieved in animal models by suppressing the growth hormone-insulin-like growth ...
Mendelian gene identification through mouse embryo viability screening.
(2022-10-13)
BACKGROUND: The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated ...
A degradatory fate for CCR4 suggests a primary role in Th2 inflammation.
(2020-03)
CCR4 is the sole receptor for the chemokines CCL22 and CCL17. Clinical studies of asthmatic airways have shown levels of both ligands and CCR4+ Th2 cells to be elevated, suggestive of a role in disease. Consequently, CCR4 ...
Assigning the right credit to the wrong action: compulsivity in the general population is associated with augmented outcome-irrelevant value-based learning.
(Nature Research, 2021-11-05)
Compulsive behavior is enacted under a belief that a specific act controls the likelihood of an undesired future event. Compulsive behaviors are widespread in the general population despite having no causal relationship ...
Disruption of ER-mitochondria tethering and signalling in C9orf72-associated amyotrophic lateral sclerosis and frontotemporal dementia
(Wiley Open Access, 2022-01-13)
Hexanucleotide repeat expansions in C9orf72 are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mechanisms by which the expansions cause disease are not properly ...
Design of Photosensitizing Agents for Targeted Antimicrobial Photodynamic Therapy.
(2020-11-10)
Photodynamic inactivation of microorganisms has gained substantial attention due to its unique mode of action, in which pathogens are unable to generate resistance, and due to the fact that it can be applied in a minimally ...
USP7 inactivation suppresses APC-mutant intestinal hyperproliferation and tumor development
(Cell Press, 2023-01-19)
Adenomatous polyposis coli (APC) mutation is the hallmark of colorectal cancer (CRC), resulting in constitutive WNT activation. Despite decades of research, targeting WNT signaling in cancer remains challenging due to its ...
A bovine miRNA, bta-miR-154c, withstands in vitro human digestion but does not affect cell viability of colorectal human cell lines after transfection
(Wiley Open Access, 2022-03-23)
Colorectal cancer (CRC) is the third most frequent human cancer with over 1.3 million new cases globally. CRC is a complex disease caused by interactions between genetic and environmental factors; in particular, high ...