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Satomi Okano, Yoshio Makita, Akihiro Katada, Yasuaki Harabuchi, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Issei Imoto
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 ( CDH23 ) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23 .
2019: Human Genome Variation
Daniel Ansari, William Torén, Qimin Zhou, Dingyuan Hu, Roland Andersson
Pancreatic cancer remains the most fatal human tumor type. The aggressive tumor biology coupled with the lack of early detection strategies and effective treatment are major reasons for the poor survival rate. Collaborative research efforts have been devoted to understand pancreatic cancer at the molecular level. Large-scale genomic studies have generated important insights into the genetic drivers of pancreatic cancer. In the post-genomic era, protein sequencing of tumor tissue, cell lines, pancreatic juice, and blood from patients with pancreatic cancer has provided a fundament for the development of new diagnostic and prognostic biomarkers...
February 15, 2019: Cell Biology and Toxicology
Richard Karban, Eric LoPresti, Geerat J Vermeij, Robert Latta
Grasses are major agricultural products worldwide and they are critical to ecosystem function in many terrestrial habitats. Despite their global importance, we know relatively little about their defenses against herbivory. Grasses tend to be tolerant of leaf loss because their valuable meristems are located underground, out of reach for above ground herbivores. Many grasses have unidirectional leaf hairs, prickles, and spines that make moving up the leaf blade easy, but make moving down, toward the meristem, difficult...
February 13, 2019: Oecologia
Ning Jiang, Alexandra A Schonnesen, Ke-Yue Ma
Advances in immune profiling techniques have dramatically changed the cancer immunotherapy and monitoring landscape. High-throughput protein and gene expression technologies have paved the way for the discovery of therapeutic targets and biomarkers, and have made monitoring therapeutic response possible through the ability to independently assay the phenotype, specificity, exhaustion status, and lineage of single T cells. Although valuable insights into response profiling have been gained with current technologies, it has become evident that single-method profiling is insufficient to accurately capture an antitumor T cell response...
February 2019: Trends in Cancer
Alix R Green
In 1977, the John Lewis Partnership (JLP) was blacklisted for breaching the Labour government's pay controls under the Social Contract. As the Callaghan administration struggled to establish economic credibility, extending its reach into the private sector emerged as a political priority. JLP became a test case of government resolve months before the Ford strike of autumn 1978 that ushered in the Winter of Discontent. This article uses JLP records to create a more nuanced picture of the tensions, contestations, and vacillations of pay policy in the late 1970s...
February 7, 2019: 20 Century British History
Jonathan K Doyon, Alen Hajnal, Tyler Surber, Joseph D Clark, Damian G Kelty-Stephen
By definition, perception is a multisensory process that unfolds in time as a complex sequence of exploratory activities of the organism. In such a system perception and action are integrated, and multiple energy arrays are available simultaneously. Perception of affordances interweaves sensory and motor activities into meaningful behavior given task constraints. The present contribution offers insight into the manner in which perception and action usher the organism through competent functional apprehension of its surroundings...
2019: PloS One
Michael Brusovansky, Nira Liberman, Marius Usher
No abstract text is available yet for this article.
February 11, 2019: Quarterly Journal of Experimental Psychology: QJEP
Abdullah Alruwaili, Shahidul Islam, Kim Usher
ABSTRACTDisasters occur rarely but have significant adverse consequences when they do. Recent statistics suggest that millions of lives and billions of US dollars have been lost in the last decade due to disaster events globally. It is crucial that hospitals are well prepared for disasters to minimize their effects. This integrative review study evaluates the preparedness level of hospitals in the Middle East for disasters using the Preferred Reporting Items for Systematic and Meta-Analyses (PRISMA) guidelines...
February 11, 2019: Disaster Medicine and Public Health Preparedness
R A Dennison, R Ward, S Griffin, J Usher-Smith
AIMS: To synthesize systematically the literature that focuses on the views of women with a history of gestational diabetes on reducing their risk of developing diabetes postpartum through lifestyle and behaviour changes. METHODS: We identified qualitative studies that examined the views of women with a history of gestational diabetes towards healthy eating and physical activity, Type 2 diabetes risk management or their experience of a diabetes prevention programme, and conducted a thematic synthesis to develop descriptive and then analytical themes...
February 5, 2019: Diabetic Medicine: a Journal of the British Diabetic Association
Jui-Chu Lin, Li-Kuei Chen, Wesley Wei-Wen Hsiao, Chien-Te Fan, Mei Lan Ko
The emergence of biobanks has expanded the scope of biomedical research, ushering in an era of "precision medicine" to improve the treatment of disease. However, biobanks also face sustainability challenges comprising three dimensions-"financial," "operational," and "social." The Taiwan Biobank (TWB), as a large-scale national biobank that supplies valuable phenotypic and genetic information to biomedical researchers on an application basis to investigate the relationship among personal health, genes, lifestyle, environment and diseases of the Taiwanese population, has not been sufficiently explored by researchers...
February 4, 2019: Biopreservation and Biobanking
Lesley J Douglas, Debra Jackson, Cindy Woods, Kim Usher
Adverse childhood experiences are strongly associated with the development of mental health disorders during the life span. When mental health issues are not effectively dealt with during the adolescent period, young people can become long-term consumers in the mental health system. A widely accepted method of intervention is the provision of mentoring. More recently, young people have been fulfilling the role of mentor to their peers and mentoring has played a large role in supporting young people who are considered at-risk of not achieving the expected psychosocial, educational, and/or developmental goals...
February 1, 2019: International Journal of Mental Health Nursing
Zhihe Qing, Jingyuan Xu, Jing Zheng, Lei He, Zhen Zou, Sheng Yang, Weihong Tan, Ronghua Yang
Due to its important physiological function, especially as molecular biomarkers of diseases, RNA has been the focus of biomedicine and biochemical sensing. Signal amplification detection has been put forward because of the needs for accurate identification of RNA within low expression levels, which is significant for the early diagnosing and therapy of malignant diseases. However, conventional amplification methods for RNA analysis depend on utilization of protein enzyme, fixation of cells and even operation of thermal cycle, which confine their performances in cell lysate or dead cells, thus imaging of RNAs in living cells remains to be explored...
February 1, 2019: Angewandte Chemie
Catherine A D Hobbs, Robert W A Potts, Matthew Bjerregaard Walsh, Jane Usher, Andrew M Griffiths
Many shark populations are in decline, primarily due to overexploitation. In response, conservation measures have been applied at differing scales, often severely restricting sales of declining species. Therefore, DNA barcoding was used to investigate sales of shark products in fishmongers and fish and chip takeaways in England. The majority of samples were identified as Spiny Dogfish (Squalus acanthias), which is critically endangered in the Northeast Atlantic and landings have been prohibited (although there is evidence of importation of this species)...
January 31, 2019: Scientific Reports
Jihoon Kim, Bon-Kyoung Koo, Ki-Jun Yoon
Pathologies induced by viral infections have undergone extensive study, with traditional model systems such as two-dimensional (2D) cell cultures and in vivo mouse models contributing greatly to our understanding of host-virus interactions. However, the technical limitations inherent in these systems have constrained efforts to more fully understand such interactions, leading to a search for alternative in vitro systems that accurately recreate in vivo physiology in order to advance the study of viral pathogenesis...
January 30, 2019: Viruses
Emmanuelle Hodara, Gareth Morrison, Alexander T Cunha, Daniel Zainfeld, Tong Xu, Yucheng Xu, Paul W Dempsey, Paul C Pagano, Farideh Bischoff, Aditi Khurana, Bonik S Koo, Marc J Ting, Philip D Cotter, Matthew W Moore, Shelly Gunn, Joshua Usher, Shahrooz Rabizadeh, Peter Danenberg, Kathleen Danenberg, John Carpten, Tanya B Dorff, David I Quinn, Amir Goldkorn
Molecular profiling of prostate cancer with liquid biopsies such as circulating tumor cells (CTC) and cell-free nucleic acid analysis yields informative yet distinct datasets. Additional insights may be gained by simultaneously interrogating multiple liquid biopsy components to construct a more comprehensive molecular disease profile. We conducted an initial proof of principle study aimed at piloting this multi-parametric approach. Peripheral blood samples from men with metastatic castrate resistant prostate cancer (mCRPC) were analyzed simultaneously for CTC enumeration, single cell copy number variation, CTC DNA and matched cell-free DNA mutations, and plasma cell-free RNA levels of androgen receptor (AR) and AR splice variant (AR-V7)...
January 31, 2019: JCI Insight
Paul McVeigh, Aaron G Maule
The first reports of CRISPR/Cas9 genome editing in flatworms could usher in a new era of research on these dangerous human parasites.
January 31, 2019: ELife
Jingyu Li, Lan Liu, Xiaozhang Chen, Chunsen Liu, Jianlu Wang, Weida Hu, David Wei Zhang, Peng Zhou
Due to the large gap in timescale between volatile memory and nonvolatile memory technologies, quasi-nonvolatile memory based on 2D materials has become a viable technology for filling the gap. By exploiting the elaborate energy band structure of 2D materials, a quasi-nonvolatile memory with symmetric ultrafast write-1 and erase-0 speeds and long refresh time is reported. Featuring the 2D semifloating gate architecture, an extrinsic p-n junction is used to charge or discharge the floating gate. Owing to the direct injection or recombination of charges from the floating gate electrode, the erasing speed is greatly enhanced to nanosecond timescale...
January 28, 2019: Advanced Materials
Mariah H Meek, Wesley A Larson
The genomics revolution has initiated a new era of population genetics where genome-wide data are frequently used to understand complex patterns of population structure and selection. However, the application of genomic tools to inform management and conservation has been somewhat rare outside a few well-studied species. Fortunately, two recently developed approaches, amplicon sequencing and sequence capture, have the potential to significantly advance the field of conservation genomics. Here, amplicon sequencing refers to highly multiplexed PCR followed by high-throughput sequencing (e...
January 25, 2019: Molecular Ecology Resources
Manuela K Hospenthal, Gabriel Waksman
Chaperone-usher (CU) pili are long, supramolecular protein fibers tethered to the surface of numerous bacterial pathogens. These virulence factors function primarily in bacterial adhesion to host tissues, but they also mediate biofilm formation. Type 1 and P pili of uropathogenic Escherichia coli (UPEC) are the two best-studied CU pilus examples, and here we primarily focus on the former. UPEC can be transmitted to the urinary tract by fecal shedding. It can then ascend up the urinary tract and cause disease by invading and colonizing host tissues of the bladder, causing cystitis, and the kidneys, causing pyelonephritis...
January 2019: Microbiology Spectrum
David A Sallman, Alan List
In cancer biology, tumor promoting inflammation and an inflammatory microenvironment play a vital role in disease pathogenesis. In the past decade, aberrant innate immune activation and pro-inflammatory signaling within the malignant clone and the bone marrow microenvironment were identified as key pathogenic drivers of myelodysplastic syndromes (MDS). In particular, S100A9-mediated NLRP3 inflammasome activation directs an inflammatory, lytic form of cell death termed pyroptosis that underlies many of the hallmark features of the disease...
January 22, 2019: Blood
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