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Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. DBA is characterized by anemia, congenital anomalies, and cancer predisposition. Treatment for DBA is associated with significant morbidity. Here, we report the identification of Nemo-like kinase (NLK) as a potential target for DBA therapy. To id
The Northern high latitudes are warming twice as fast as the global average, and permafrost has become vulnerable to thaw. Changes to the environment during thaw leads to shifts in microbial communities and their associated functions, such as greenhouse gas emissions. Understanding the ecological processes that structure the identity and abundance (i.e., assembly) of pre- and post-thaw communitiesThe Northern high latitudes are warming twice as fast as the global average, and permafrost has become vulnerable to thaw. Changes to the environment during thaw leads to shifts in microbial communities and their associated functions, such as greenhouse gas emissions. Understanding the ecological processes that structure the identity and abundance (i.e., assembly) of pre- and post-thaw communities
Neuroblastoma is a childhood developmental cancer; however, its embryonic origins remain poorly understood. Moreover, in-depth studies of early tumor-driving events are limited because of the lack of appropriate models. Herein, we analyzed RNA sequencing data obtained from human neuroblastoma samples and found that loss of expression of trunk neural crest–enriched gene MOXD1 associates with advanc
Ultrasound Optical Tomography (UOT) combines the high-resolution imaging capability of ultrasound with measurements of light absorption and scattering properties of human tissue. This non-invasive technique could distinguish between cancerous and non-cancerous lesions inside the breast tissue, follow tumor shrinkage during preoperative treatment, or provide information on blood oxygenation levels.
Optical imaging utilize light to analyze biological tissues in detail, non-invasively and without harmful radiation. Examples include ultrasound optical tomography and photoacoustic imaging; both use a limited number of wavelengths. Diffuse reflectance spectroscopy, another optical technique, covers a continuous wavelength range, but without generating an image. This study focuses on extended-wave
The capabilities of ultrasound optical tomography (UOT) is investigated through Monte Carlo simulations on realistic breast tissue phantoms constructed using the OpenVCT platform. This work indicates that UOT is a method capable of distinguishing malignant tumor tissue from benign glandular tissue deep inside the breast, despite the natural variations of adipose and glandular compartments within a
Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal
Persons with type 2 diabetes born in the regions of famine exposures have disproportionally elevated risk of vision-threatening proliferative diabetic retinopathy (PDR) in adulthood. However, the underlying mechanisms are not known. In the present study, we aimed to investigate the plausible molecular factors underlying progression to PDR. To study the association of genetic variants with PDR unde
BACKGROUND: Transmission of coronavirus disease 2019 (COVID-19) can occur through inhalation of fine droplets or aerosols containing infectious virus. The objective of this study was to identify situations, patient characteristics, environmental parameters, and aerosol-generating procedures (AGPs) associated with airborne severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus.METHODS:
X-ray fluorescence microscopy performed at nanofocusing synchrotron beamlines produces quantitative elemental distribution maps at unprecedented resolution (down to a few tens of nanometres), at the expense of relatively long measuring times and high absorbed doses. In this work, a method was implemented in which fast low-dose in-line holography was used to produce quantitative electron density ma
The thermal environment experienced by birds during early postembryonic development may be an important factor shaping growth and survival. However, few studies have directly manipulated nest temperature (T n) during the nestling phase, and none have measured the consequences of experimental heat stress on nestlings’ body temperature (T b). It is therefore not known to what extent any fitness consThe thermal environment experienced by birds during early postembryonic development may be an important factor shaping growth and survival. However, few studies have directly manipulated nest temperature (T n) during the nestling phase, and none have measured the consequences of experimental heat stress on nestlings’ body temperature (T b). It is therefore not known to what extent any fitness cons
This review highlights the importance of air quality in the African urban development process. We address connections between air pollution and (a) rapid urbanization, (b) social problems, (c) health impacts, (d) climate change, (e) policies, and ( f ) new innovations. We acknowledge that air pollution levels in Africa can be extremely high and a serious health threat. The toxic content of the pol
The respiratory epithelium consists of multiple, functionally distinct cell types and is maintained by regionally specific progenitor populations that repair the epithelium following injury. Several in vitro methods exist for studying lung epithelial repair using primary murine lung cells, but isolation methods are hampered by a lack of surface markers distinguishing epithelial progenitors along t
Achieving CRISPR Cas9-based manipulation of mitochondrial DNA (mtDNA) has been a long-standing goal and would be of great relevance for disease modeling and for clinical applications. In this project, we aimed to deliver Cas9 into the mitochondria of human cells and analyzed Cas9-induced mtDNA cleavage and measured the resulting mtDNA depletion with multiplexed qPCR. In initial experiments, we fou
Air pollution is a global challenge impacting the lives of millions of people, especially in low-income countries. Improving air quality is linked to several of the United Nations Sustainable Development Goals (SDGs). The state of particulate matter (PM) pollution in Ethiopia and the importance of a national ambient air quality monitoring program are discussed. The contributions of NASA’s upcoming
BACKGROUND: Diesel engine exhaust causes adverse health effects. Meanwhile, the impact of renewable diesel exhaust, such as hydrotreated vegetable oil (HVO), on human health is less known. Nineteen healthy volunteers were exposed to HVO exhaust for 3 h in a chamber with a double-blind, randomized setup. Exposure scenarios comprised of HVO exhaust from two modern non-road vehicles with 1) no aftert
Background: Welders are exposed to gas and particle emissions that can cause severe lung disease, such as chronic obstructive pulmonary disease (COPD), a leading cause of mortality and morbidity worldwide. It is difficult to detect COPD early and therefore mitigating measures may be delayed. The aim of this study was to investigate lung health in welders and evaluate new sensitive methods with pot
Abstract: Birds have evolved morphological, physiological and behavioural adaptations, encoded in their migratory programs, to enable successful migration. Sometimes, even closely related species, such as the Eurasian reed warbler and the sedge warbler, may adopt different migration strategies to reach their wintering grounds in sub-Saharan Africa. To study them in detail, we aimed to compare the
The advent of optogenetic tools has had a profound impact on modern neuroscience research, revolutionizing our understanding of the brain. These tools offer a remarkable ability to precisely manipulate specific groups of neurons with an unprecedented level of temporal precision, on the order of milliseconds. This breakthrough has significantly advanced our knowledge of various physiological and pa
