185 Results Found

CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for...

CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) in the trans-Golgi network in neurons and endocrine cells. Mutations in genes involved in DCV regulation, other than CCDC186, have been described in patients with neurodevelo...

Rare gene variants have been found to play a role in complex disorders. Preeclampsia, and especially early-onset preeclampsia, has a strong genetic link. However, the role of rare variants in the offspring of mothers with preeclampsia remains unclear...

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the CCDC88C gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ata...

Circular RNA (circRNA), generated through backsplicing in which the downstream splice donor joins the upstream splice acceptor, is a novel class of RNA molecules. Our previous study found that a novel oncogenic circRNA—consisting exon 8–1...

CCDC6 is implicated in cell cycle checkpoints and DNA damage repair by homologous recombination (HR). In NSCLC, CCDC6 is barely expressed in about 30% of patients and CCDC6 gene rearrangements with RET and ROS kinases are detected in about 1% of pati...

Despite the existence of effective therapy options for patients with localized colorectal cancer, advanced-stage patients have limited therapies. Genomic profiling is a promising tool for guiding treatment selection as well as patient monitoring. Her...

The early detection of cancer can reduce cancer-related mortality. There is no clinically useful noninvasive biomarker for early detection of breast cancer. The aim of this study was to develop accurate and precise early detection biomarkers and a dy...

The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunoloca...

We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6) potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on OAR3. In the present study, we have analyzed the whole-genome sequences of two...

Alternative splicing (AS) plays a crucial role in regulating gene expression, function, and diversity. However, limited reports exist on the identification and comparison of AS in Eastern and Western pigs. Here, we analyzed 243 transcriptome data fro...

The rapid expansion of urban areas necessitates effective monitoring systems for sustainable development planning. Time-series change detection algorithms applied to satellite imagery offer promising solutions, but their comparative effectiveness spe...

Large-scale vegetation loss induced by surface coal mining constitutes a critical driver of regional ecological degradation. However, the applicability of existing change detection methodologies based on remote sensing within complex mining areas und...

Among the various types of breast cancer, the luminal B subtype is the most common in young women, and ESR1-CCDC170 (E:C) fusion is the most frequent oncogenic fusion driver of the luminal B subtype. Nevertheless, treatments targeting E:C fusion has...

A full understanding of the patterns, trends, and strategies for long-term ecosystem changes helps decision-makers evaluate the effectiveness of ecological restoration projects. This study identified the ecological restoration approaches on planted f...

Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus...

Cholangiocarcinoma (CCA) is a malignancy arising from cholangiocytes. Currently, the treatment and prognosis for CCA are mostly poor. Recently, we have reported that coiled-coil domain containing 25 (CCDC25) protein level in the sera may be a diagnos...

The operational Simplified Surface Energy Balance (SSEBop) model has been utilized to generate gridded evapotranspiration data from Landsat images. These estimates are primarily driven by two sources of information: reference evapotranspiration and L...

In recent years, the availability of automated change detection algorithms in Google Earth Engine has permitted the cloud-based processing of large quantities of satellite imagery. Models such as the Continuous Change Detection and Classification (CC...

Access to temporally dense time series such as data from the Landsat and Sentinel-2 missions has lead to an increase in methods which aim to monitor land cover change on a per-acquisition rather than a yearly basis. Evaluating the accuracy and limita...

Mangrove forests play a global role in providing ecosystem goods and services in addition to acting as carbon sinks, and are particularly vulnerable to climate change effects such as rising sea levels and increased salinity. For this reason, accurate...

Short-rotation eucalyptus plantations play a key positive role in the forestry economy due to their fast-growing and high-yielding properties. However, some studies have suggested that eucalyptus plantations introductions may have negative impacts on...

Remote sensing of disturbance in the savannas from Brazil is challenging, especially due to confounding effects of the vegetation phenology and natural soil exposure on the detection of clearing and fire events. In this study, we investigated the det...

Disease-causing bi-allelic DNA variants in CCDC39 and CCDC40 are frequent causes of the hereditary disorder of primary ciliary dyskinesia (PCD). The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along...

Adipose-derived stem cells (ADSCs) are used in tissue regeneration therapies. The objective of this study is to identify stable reference genes (RGs) for use in gene expression studies in a characterized equine adipose-derived mesenchymal stem cell (...

The long-term monitoring of wetland ecosystem functioning is critical because wetlands, which provide multiple services, can be affected by human activities and climate change. The aim of this study was to monitor wetland ecosystem functioning in the...

Cold-temperate forests (CTFs) are not only an important source of wood but also provide significant carbon storage in China. However, under the increasing pressure of human activities and climate change, CTFs are experiencing severe disturbances, suc...

Forest change monitoring is a fundamental and routine task for forest survey and planning departments, and the resulting forest change information acts as an underlying asset for sustainable forest management strategy development, ecological quality...

Accurate long-term and high-resolution forest disturbance monitoring are pivotal for forest carbon modeling and forest management. Many algorithms have been developed for this purpose based on the Landsat time series, but their nationwide performance...

Electrified ports using medium-voltage DC (MVDC) renewable energy microgrids require current-fed dc/dc converters in application scenarios such as battery or ultracapacitor charging units and hydrogen production systems. This paper designs a three-le...

Mapping forest disturbances is an essential component of forest monitoring systems both to support local decisions and for international reporting. Between the 28 and 29 October 2018, the VAIA storm hit the Northeast regions of Italy with wind gusts...

Mutations in the LMNA gene-encoding A-type lamins can cause Limb–Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity....

mpkCCDc14 cells, a polarized epithelial cell line derived from mouse kidney cortical collecting ducts, are known to express the vasopressin V2 receptor (V2R) and aquaporin-2 (AQP2) that are responsive to vasopressin. However, a low abundance of the e...

Variability in the effects of disturbances and extreme climate events can lead to changes in tree cover over time, including partial or complete loss, with diverse ecological consequences. It is therefore critical to identify in space and time the ch...

Many models for change point detection from time series remote sensing images have been developed to date. For forest ecosystems, fire disturbance detection models have always been an important topic. However, due to a lack of benchmark datasets, it...

Lung cancer is the most common cancer worldwide. Disappointingly, despite great effort in encouraging screening or, at least, a close surveillance of high-risk individuals, most of lung cancers are diagnosed when already surgically unresectable becau...

Spermatozoa are flagellated cells whose role in fertilization is dependent on their ability to move towards an oocyte. The structure of the sperm flagella is highly conserved across species, and much of what is known about this structure is derived f...

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD su...

This paper presents a remote sensing approach for rapidly and automatically generating maps of surface disturbances caused by landslides on the global scale. Our approach not only identifies the locations of these disturbances but also pinpoints the...

Forests in Washington State generate substantial economic revenue from commercial timber harvesting on private lands. To investigate the rates, causes, and spatial and temporal patterns of forest harvest on private tracts throughout the Cascade Mount...

Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disea...

Avocado orchards are among the most profitable and fastest-growing commodity crops in Mexico, especially in the area known as the “Avocado Belt”. Several efforts have been made to monitor their expansion; however, there is currently no me...

Exosomes may function as multifactorial mediators of cell-to-cell communication, playing crucial roles in both physiological and pathological processes. Exosomes released from virus-infected cells may contain RNA and proteins facilitating infection s...

In order to clarify the long-term changes in mangroves in the Beibu Gulf of Guangxi and the carbon storage changes after the invasion of Spartina alterniflora (S. alterniflora) in the Dandou Sea area, the Continuous Change Detection and Classificatio...

Landslide risk mitigation is limited by data scarcity; however, this could be improved using continuous landslide detection systems. To investigate which image types and machine learning models are most useful for landslide detection in a Norwegian s...

Fractional Forest cover holds significance in characterizing the ecological condition of forests and serves as a crucial input parameter for climate and hydrological models. This research introduces a novel approach for generating a 250 m fractional...

Bacillus velezensis FZB42 is a plant growth-promoting rhizobacterium (PGPR) and a model microorganism for biofilm studies. Biofilms are required for the colonization and promotion of plant growth in the rhizosphere. However, little is known about how...

Interactions between the major structural glycoprotein E2 of classical swine fever virus (CSFV) with host proteins have been identified as important factors affecting virus replication and virulence. Previously, using the yeast two-hybrid system, we...

The protection of mangroves through nature reserves has been demonstrated to be effective. There were many studies evaluating the mangrove protection effect. However, the evaluation of mangrove growth quality with positive or negative growth trends,...

Due to the significant threat to forest health posed by beetle infestations on pine trees, timely and accurate predictions are crucial for effective forest management. This study developed a pine tree stress probability prediction workflow based on m...