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https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#1
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938648/a-novel-lncrna-ll22nc03-n64e9-1-represses-klf2-transcription-through-binding-with-ezh2-in-colorectal-cancer
#2
Yifan Lian, Changsheng Yan, Jie Ding, Rui Xia, Zhonghua Ma, Bingqing Hui, Hao Ji, Jing Zhou, Keming Wang
Long noncoding RNAs (lncRNA) have been implicated in variety human cancer but their mechanisms of function are mainly undocumented. In the present study, we investigated lncRNAs alteration that contributed to colorectal cancer (CRC) by utilizing TCGA RNA sequencing data and other publicly available lncRNAs expression profiling data. Here, We screened out the CRC-associated lncRNA LL22NC03-N64E9.1, a key regulator of CRC development and progression. We also revealed that knockdown of LL22NC03-N64E9.1 inhibited cell proliferation, colony formation, tumorigenicity and apoptosis promotion, both in vitro and in vivo...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938550/prognostic-value-of-dna-repair-genes-based-on-stratification-of-glioblastomas
#3
Sun Kun, Qiwen Duan, Gang Liu, Jing-Min Lu
Abnormal expression of DNA repair genes is frequently associated with cancerogenesis of many tumors, however, the role DNA repair genes play in the progression of glioblastoma remains unclear. In this study, taking advantage of large scale of RNA-seq data, as well as clinical data, the function and prognosis value of key DNA repair genes in glioblastoma were analyzed by systematically bioinformatic approaches. Clustering was performed to screen potentially abnormal DNA repair genes related to the prognosis of glioblastoma, followed by unsupervised clustering to identify molecular subtypes of glioblastomas...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938479/pulmonary-function-and-sleep-breathing-two-new-targets-for-type-2-diabetes-care
#4
Albert Lecube, Rafael Simó, Maria Pallayova, Naresh M Punjabi, Carolina López-Cano, Cecilia Turino, Cristina Hernández, Ferran Barbé
Population based studies showing the negative impact of type 2 diabetes (T2D) on lung function are overviewed. Among the well-recognized pathophysiological mechanisms, the metabolic pathways related to insulin resistance, low-grade chronic inflammation, leptin resistance, microvascular damage, and autonomic neuropathy are emphasized. Histopathological changes are exposed, and findings reported from experimental models are clearly differentiated from those described in humans. The accelerated decline in pulmonary function that appears in patients with cystic fibrosis with related abnormalities of glucose tolerance and diabetes is considered as an example to further investigate the relationship between T2D and the lung...
September 4, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938471/low-vitamin-b12-in-pregnancy-is-associated-with-adipose-derived-circulating-mirs-targeting-ppar%C3%AE-and-insulin-resistance
#5
Antonysunil Adaikalakoteswari, Manu Vatish, Mohammad Tauqeer Alam, Sascha Ott, Sudhesh Kumar, Ponnusamy Saravanan
Context: Low vitamin B12 (B12) during pregnancy is associated with higher maternal obesity, insulin resistance(IR) and gestational diabetes(GDM). B12 is a key co-factor in 1-carbon metabolism. Objective: We hypothesize that B12 plays a role in epigenetic regulation by altering circulating miRNAs(miRs) during adipocyte differentiation and results in an adverse metabolic phenotype. Design, settings and main-outcome measure: Human pre-adipocyte cell-line(Chub-S7) were differentiated in various B12 concentrations: Control(500nM), LowB12(0...
September 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938432/mitochondrial-function-regulated-by-mitoguardin-1-2-is-crucial-for-ovarian-endocrine-functions-and-ovulation
#6
Xiao-Man Liu, Yin-Li Zhang, Shu-Yan Ji, Long-Wen Zhao, Wei-Na Shang, Dali Li, Zijiang Chen, Chao Tong, Heng-Yu Fan
The balances of mitochondrial dynamic changes, mitochondrial morphology, and mitochondrial number are critical in cell metabolism. Once disturbed, disorders in these processes generally cause diseases or even death in animals. We performed large-scale genetic screenings in fruit flies and discovered the new gene mitoguardin (miga) that encodes for a mitochondrial outer membrane protein. In order to examine the physiological functions of its mammalian homologs Miga1 and 2, we generated Miga1 and Miga2 single- and double-knockout mouse strains and found that the knockout mice were viable, but the females were subfertile...
August 23, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938163/tumor-cell-targeted-delivery-of-crispr-cas9-by-aptamer-functionalized-lipopolymer-for-therapeutic-genome-editing-of-vegfa-in-osteosarcoma
#7
Chao Liang, Fangfei Li, Luyao Wang, Zong-Kang Zhang, Chao Wang, Bing He, Jie Li, Zhihao Chen, Atik Badshah Shaikh, Jin Liu, Xiaohao Wu, Songlin Peng, Lei Dang, Baosheng Guo, Xiaojuan He, D W T Au, Cheng Lu, Hailong Zhu, Bao-Ting Zhang, Aiping Lu, Ge Zhang
Osteosarcoma (OS) is a highly aggressive pediatric cancer, characterized by frequent lung metastasis and pathologic bone destruction. Vascular endothelial growth factor A (VEGFA), highly expressed in OS, not only contributes to angiogenesis within the tumor microenvironment via paracrine stimulation of vascular endothelial cells, but also acts as an autocrine survival factor for tumor cell themselves, thus making it a promising therapeutic target for OS. CRISPR/Cas9 is a versatile genome editing technology and holds tremendous promise for cancer treatment...
September 13, 2017: Biomaterials
https://www.readbyqxmd.com/read/28938026/hiv-exposed-seronegative-hesn-compared-to-hiv-infected-individuals-have-higher-frequencies-of-telomeric-killer-immunoglobulin-like-receptor-kir-b-motifs-contribution-of-kir-b-motif-encoded-genes-to-nk-cell-responsiveness
#8
Elise Jackson, Cindy Xinyu Zhang, Zahra Kiani, Irene Lisovsky, Benjamin Tallon, Alexa Del Corpo, Louise Gilbert, Julie Bruneau, Réjean Thomas, Pierre Côté, Benoit Trottier, Roger LeBlanc, Danielle Rouleau, Cécile Tremblay, Christos M Tsoukas, Jean-Pierre Routy, Xiaoyan Ni, Tsoarello Mabanga, Nicole F Bernard
Previously, we showed that Killer Immunoglobulin-like Receptor (KIR)3DS1 homozygotes (hmz) are more frequent in HIV exposed seronegative (HESN) than in recently HIV infected (HIV+) individuals. KIR3DS1 encodes an activating Natural Killer (NK) cell receptor (NKR). The link between KIR genotype and HIV outcomes likely arises from the function that NK cells acquire through expression of particular NKRs. An initial screen of 97 HESN and 123 HIV+ subjects for the frequency of KIR region gene carriage observed between-group differences for several telomeric KIR region loci...
2017: PloS One
https://www.readbyqxmd.com/read/28938018/genome-wide-identification-of-bacterial-plant-colonization-genes
#9
Benjamin J Cole, Meghan E Feltcher, Robert J Waters, Kelly M Wetmore, Tatiana S Mucyn, Elizabeth M Ryan, Gaoyan Wang, Sabah Ul-Hasan, Meredith McDonald, Yasuo Yoshikuni, Rex R Malmstrom, Adam M Deutschbauer, Jeffery L Dangl, Axel Visel
Diverse soil-resident bacteria can contribute to plant growth and health, but the molecular mechanisms enabling them to effectively colonize their plant hosts remain poorly understood. We used randomly barcoded transposon mutagenesis sequencing (RB-TnSeq) in Pseudomonas simiae, a model root-colonizing bacterium, to establish a genome-wide map of bacterial genes required for colonization of the Arabidopsis thaliana root system. We identified 115 genes (2% of all P. simiae genes) with functions that are required for maximal competitive colonization of the root system...
September 22, 2017: PLoS Biology
https://www.readbyqxmd.com/read/28937878/degradation-of-chlorpyrifos-by-an-endophytic-bacterium-of-the-sphingomonas-genus-strain-hjy-isolated-from-chinese-chives-allium-tuberosum
#10
Fayun Feng, Yisong Li, Jing Ge, Jinjin Chen, Wayne Jiang, Shuang He, Xianjing Liu, Xiangyang Yu
The degradation of chlorpyrifos (CP) by an endophytic bacterial strain (HJY) isolated from Chinese chives (Allium tuberosum Rottl. ex Spreng) was investigated. Strain HJY was identified as Sphingomonas sp. based on morphological, physiological, and biochemical tests and a 16S rDNA sequence analysis. Approximately 96% of 20 mg L(-1) CP was degraded by strain HJY over 15 days in liquid minimal salts medium (MSM). The CP degradation rate could also be increased by glucose supplementation. The optimal conditions for the removal of 20 mg L(-1) CP by strain HJY in MSM were 2% inoculum density, pH 6...
September 22, 2017: Journal of Environmental Science and Health. Part. B, Pesticides, Food Contaminants, and Agricultural Wastes
https://www.readbyqxmd.com/read/28937582/design-of-the-exercise-mri-evaluation-of-hiv-pulmonary-arterial-hypertension-longitudinal-determinants-exhalted-trial
#11
Mohamad Amer Alaiti, Aditya Goud, Gautam Ramani, Sashwatee Bagchi, Sadeer Al-Kindi, Steven Sawicki, Christopher Longenecker, Trevor Jenkins, David Pauza, Myung Park, Grace McComsey, Orlando Simonetti, Brian Hoit, Sanjay Rajagopalan
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially serious cause of dyspnea and exercise limitation in patients with HIV infection. In this trial, we propose using exercise MRI in conjunction with cardiopulmonary testing to delineate PAH from other causes of cardiovascular dysfunction, identify individuals with exercise-induced PAH who are at high risk of developing resting PAH, and provide longitudinal estimates of progression of PAH and right ventricular function. METHODS: In this prospective observational study, HIV patients with dyspnea and exercise limitation in the absence of identifiable causes and those who meet the inclusion criteria will be enrolled based on resting pulmonary artery pressure (≤ or >40 mmHg) on a screening echocardiogram and exercise limitation on the Modified Medical Research Council dyspnea scale...
September 20, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28936811/detecting-random-responders-with-infrequency-scales-using-an-error-balancing-threshold
#12
Dale S Kim, Connor J McCabe, Brianna L Yamasaki, Kristine A Louie, Kevin M King
Infrequency scales are becoming a popular mode of data screening, due to their availability and ease of implementation. Recent research has indicated that the interpretation and functioning of infrequency items may not be as straightforward as had previously been thought (Curran & Hauser, 2015), yet there are no empirically based guidelines for implementing cutoffs using these items. In the present study, we compared two methods of detecting random responding with infrequency items: a zero-tolerance threshold versus a threshold that balances classification error rates...
September 21, 2017: Behavior Research Methods
https://www.readbyqxmd.com/read/28936720/development-of-finger-force-coordination-in-children
#13
Sharon Shaklai, Aviva Mimouni-Bloch, Moran Levin, Jason Friedman
Coordination is often observed as body parts moving together. However, when producing force with multiple fingers, the optimal coordination is not to produce similar forces with each finger, but rather for each finger to correct mistakes of other fingers. In this study, we aim to determine whether and how this skill develops in children aged 4-12 years. We measured this sort of coordination using the uncontrolled manifold hypothesis (UCM). We recorded finger forces produced by 60 typically developing children aged between 4 and 12 years in a finger-pressing task...
September 21, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28936583/effective-immunological-guidance-of-genetic-analyses-including-exome-sequencing-in-patients-evaluated-for-hemophagocytic-lymphohistiocytosis
#14
Sandra Ammann, Kai Lehmberg, Udo Zur Stadt, Christian Klemann, Sebastian F N Bode, Carsten Speckmann, Gritta Janka, Katharina Wustrau, Mirzokhid Rakhmanov, Ilka Fuchs, Hans C Hennies, Stephan Ehl
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 affected, but asymptomatic siblings), 87/162 patients with "full" HLH and 79/111 patients with "incomplete/atypical" HLH had normal immunological screening results...
September 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28936468/gfp-grb2-translocation-assay-using-high-content-imaging-to-screen-for-modulators-of-egfr-signaling
#15
Julia Petschnigg, Robin Ketteler
High-content screening is a useful tool to understand complex cellular processes and to identify genes, proteins or small molecule compounds that modulate such pathways. High-content assays monitor the function of a protein or pathway by visualizing a change in an image-based readout, such as a change in the localization of a reporter protein. Examples of this can be the translocation of a fluorescently tagged protein from the cytoplasm to the nucleus or to the plasma membrane. One protein that is known to undergo such translocation is the Growth Factor Receptor-bound protein 2 (GRB2) that is recruited to the plasma membrane upon stimulation of a growth factor receptor and subsequently undergoes internalization...
September 5, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28936066/cognitive-impairment-in-rural-elderly-population-in-ecuador
#16
Xavier Wong-Achi, Gabriela Egas, Dayana Cabrera
INTRODUCTION: The Mini-Cog is a simple and short test that identifies cognitive impairment. Its detection helps provide an early dementia diagnosis, rapid access to treatments, and even delay or reversion. MATERIALS AND METHODS: This multicenter, observational, descriptive, and cross-sectional study included 214 patients. Patients enrolled in this study were community dwellers aged ≥55-year-old, without prior diagnosis of cognitive impairment or dementia, with adequate hearing and vision functions...
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28935977/zebrafish-in-vivo-screening-for-compounds-amplifying-hematopoietic-stem-and-progenitor-cells-preclinical-validation-in-human-cd34-stem-and-progenitor-cells
#17
Guruchandar Arulmozhivarman, Martin Kräter, Manja Wobus, Jens Friedrichs, Elham Pishali Bejestani, Katrin Müller, Katrin Lambert, Dimitra Alexopoulou, Andreas Dahl, Martin Stöter, Marc Bickle, Nona Shayegi, Jochen Hampe, Friedrich Stölzel, Michael Brand, Malte von Bonin, Martin Bornhäuser
The identification of small molecules that either increase the number and/or enhance the activity of human hematopoietic stem and progenitor cells (hHSPCs) during ex vivo expansion remains challenging. We used an unbiased in vivo chemical screen in a transgenic (c-myb:EGFP) zebrafish embryo model and identified histone deacetylase inhibitors (HDACIs), particularly valproic acid (VPA), as significant enhancers of the number of phenotypic HSPCs, both in vivo and during ex vivo expansion. The long-term functionality of these expanded hHSPCs was verified in a xenotransplantation model with NSG mice...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935911/directing-evolution-the-next-revolution-in-drug-discovery
#18
REVIEW
Andrew M Davis, Alleyn T Plowright, Eric Valeur
The strong biological rationale to pursue challenging drug targets such as protein-protein interactions has stimulated the development of novel screening strategies, such as DNA-encoded libraries, to allow broader areas of chemical space to be searched. There has also been renewed interest in screening natural products, which are the result of evolutionary selection for a function, such as interference with a key signalling pathway of a competing organism. However, recent advances in several areas, such as understanding of the biosynthetic pathways for natural products, synthetic biology and the development of biosensors to detect target molecules, are now providing new opportunities to directly harness evolutionary pressure to identify and optimize compounds with desired bioactivities...
September 22, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28935902/targeting-neph1-and-zo-1-protein-protein-interaction-in-podocytes-prevents-podocyte-injury-and-preserves-glomerular-filtration-function
#19
Amin Sagar, Ehtesham Arif, Ashish Kumar Solanki, Pankaj Srivastava, Michael G Janech, Seok-Hyung Kim, Joshua H Lipschutz, Sang-Ho Kwon, Ashish, Deepak Nihalani
Targeting protein-protein interaction (PPI) is rapidly becoming an attractive alternative for drug development. While drug development commonly involves inhibiting a PPI, in this study, we show that stabilizing PPI may also be therapeutically beneficial. Junctional proteins Neph1 and ZO-1 and their interaction is an important determinant of the structural integrity of slit diaphragm, which is a critical component of kidney's filtration system. Since injury induces loss of this interaction, we hypothesized that strengthening this interaction may protect kidney's filtration barrier and preserve kidney function...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935667/upregulation-of-herv-k-is-linked-to-immunity-and-inflammation-in-pulmonary-arterial-hypertension
#20
Toshie Saito, Kazuya Miyagawa, Shih-Yu Chen, Rasa Tamosiuniene, Lingli Wang, Orr Sharp, Erik Samayoa, Daisuke Harada, Jan-Renier A J Moonen, Aiqin Cao, Pin-I Chen, Jan K Hennigs, Mingxia Gu, Caiyun G Li, Ryan D Leib, Dan Li, Christopher M Adams, Patricia A Del Rosario, Matthew A Bill, Francois Haddad, Jose G Montoya, William Robinson, Wendy J Fantl, Garry P Nolan, Roham T Zamanian, Mark R Nicolls, Charles Y Chiu, Maria E Ariza, Marlene Rabinovitch
Background -Immune dysregulation has been linked to occlusive vascular remodeling in pulmonary arterial hypertension (PAH) that is hereditary, idiopathic or associated with other conditions. Circulating autoantibodies, lung perivascular lymphoid tissue and elevated cytokines have been related to PAH pathogenesis but without clear understanding of how these abnormalities are initiated, perpetuated and connected in the progression of disease. We therefore set out to identify specific target antigens in PAH lung immune complexes as a starting point toward resolving these issues to better inform future application of immunomodulatory therapies...
September 21, 2017: Circulation
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