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https://www.readbyqxmd.com/read/29677516/structural-basis-for-teneurin-function-in-circuit-wiring-a-toxin-motif-at-the-synapse
#1
Jingxian Li, Moran Shalev-Benami, Richard Sando, Xian Jiang, Amanuel Kibrom, Jie Wang, Katherine Leon, Christopher Katanski, Olha Nazarko, Yue C Lu, Thomas C Südhof, Georgios Skiniotis, Demet Araç
Teneurins (TENs) are cell-surface adhesion proteins with critical roles in tissue development and axon guidance. Here, we report the 3.1-Å cryoelectron microscopy structure of the human TEN2 extracellular region (ECR), revealing a striking similarity to bacterial Tc-toxins. The ECR includes a large β barrel that partially encapsulates a C-terminal domain, which emerges to the solvent through an opening in the mid-barrel region. An immunoglobulin (Ig)-like domain seals the bottom of the barrel while a β propeller is attached in a perpendicular orientation...
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29677003/identification-of-a-novel-tcf4-isoform-in-the-human-corneal-endothelium
#2
Allen O Eghrari, Shivakumar Vasanth, Briana C Gapsis, Henry Bison, Ula Jurkunas, S Amer Riazuddin, John D Gottsch
PURPOSE: Alternative splice isoforms of TCF4, a gene implicated in Fuchs corneal dystrophy, have been identified in multiple human tissues outside of the eye. The aim of this study was to identify the transcriptional profile of TCF4 in the corneal endothelium. METHODS: We extracted RNA from the donor corneal endothelium and performed rapid amplification of cDNA ends. We tested the expression pattern of 1 newly identified isoform (7b) in a panel of cDNA derived from multiple human tissues and included cDNA from corneal endothelial (CE) and retinal pigment epithelial cell lines...
April 19, 2018: Cornea
https://www.readbyqxmd.com/read/29676859/a-novel-splicing-mutation-of-ectodysplasin-a-gene-responsible-for-hypohidrotic-ectodermal-dysplasia
#3
Guannan Liu, Xin Wang, Man Qin, Lisha Sun, Junxia Zhu
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously unidentified mutation in the EDA splice donor site (c.526+1G>A). The function of the mutant EDA gene was predicted through online investigations and subsequently confirmed by splicing analysis in vitro...
April 20, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29676621/interleukin-17a-in-the-pathogenesis-of-lung-adenocarcinoma
#4
Zhen Lin, Christian Nguyen, Beibei Xu, Erik K Flemington, Gilbert F Morris
RATIONALE: Evidence has shown that inhaled lung carcinogens, such as tobacco smoke, silica, or asbestos, induce a T-helper cell type 17 inflammatory environment. Interleukin-17A (commonly and hereafter called IL-17) is the signature cytokine of T-helper cell type 17 inflammation. We have shown previously that IL-17 overexpression promotes growth of lung adenocarcinoma in transgenic mouse models. Our additional findings suggest that IL-17 suppresses the function of the p53 tumor suppressor protein in a mutant K-Ras-expressing lung tumor cell line...
April 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29676091/-identification-of-dioscorea-nipponica-and-its-sects-based-on-psba-trnh-barcode
#5
Rong Zhao, Fei Shao, Hai-Bo Yin, Ting-Guo Kang
A rapid and accurate method was established by psbA-trnH sequence to distinguish Dioscorea nipponica from other species belonging to the same genus.In this study, we collected 144 samples of D. nipponica from 17 different producing areas in China, the psbA-trnH sequenced of 23 nucleotide sequences were downloaded from GenBank, the sequences from Dioscorea genus. DNAMAN 8.0 software was used to show splicing, MEGA 6.0 software was applied for sequence analysis and comparison. The results showed that the genetic relationship between D...
March 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29675921/clinical-and-molecular-insights-into-glanzmann-s-thrombasthenia-in-china
#6
L Zhou, M Jiang, H Shen, T You, Z Ding, Q Cui, Z Ma, F Yang, Z Xie, H Shi, J Su, L Cao, J Lin, J Yin, L Dai, H Wang, Z Wang, Z Yu, C Ruan, L Xia
Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in nonconsanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29675420/regulation-of-long-noncoding-rnas-responsive-to-phytoplasma-infection-in-paulownia-tomentosa
#7
Guoqiang Fan, Yabing Cao, Zhe Wang
Paulownia witches' broom caused by phytoplasma infection affects the production of Paulownia trees worldwide. Emerging evidence showed that long noncoding RNAs (lncRNA) play a protagonist role in regulating the expression of genes in plants. So far, the identification of lncRNAs has been limited to a few model plant species, and their roles in mediating responses to Paulownia tomentosa that free of phytoplasma infection are yet to be characterized. Here, whole-genome identification of lncRNAs, based on strand-specific RNA sequencing, from four Paulownia tomentosa samples, was performed and identified 3689 lncRNAs...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29675223/approach-control-stereoelectronic-origin-of-geometric-constraints-on-n-to-s-and-n-to-o-acyl-shifts-in-peptides
#8
Neal K Devaraj, Charles L Perrin
Intramolecular N-to-S or N-to-O acyl shifts in peptides are of fundamental and practical importance, as they constitute the first step in protein splicing and can be used for the synthesis of thioester-modified peptides required for native chemical ligation. It has been stated that the nucleophile must be positioned anti to the carbonyl oxygen, as in a cis amide. Despite the importance of such reactions, an understanding of this geometric restriction remains obscure. Here we argue that the empirical requirement for positioning the nucleophile is a stereoelectronic effect arising from the ease of approach of the nucleophile to a carbonyl group, not ground-state destabilization...
February 21, 2018: Chemical Science
https://www.readbyqxmd.com/read/29674510/tamoxifen-resistance-trumped-and-oral-selective-estrogen-receptor-degraders-arrive
#9
V Craig Jordan
Predictive tests, to refine the estrogen receptor assay, for the adjuvant treatment of breast cancer with tamoxifen and oral Selective Estrogen Receptor Degraders (SERDs) are required.  A splice variant of the corepressor NCOR2, BQ2313636.1 predicts tamoxifen resistence to adjuvant tamoxifen and AZ9496, the first oral SERD, completes phase one studies.
April 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29674126/bbs9-gene-in-nonsyndromic-craniosynostosis-role-of-the-primary-cilium-in-the-aberrant-ossification-of-the-suture-osteogenic-niche
#10
Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi
Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly...
April 16, 2018: Bone
https://www.readbyqxmd.com/read/29673914/dynamics-nanoscale-organization-and-function-of-synaptic-adhesion-molecules
#11
REVIEW
Ingrid Chamma, Olivier Thoumine
Synaptic adhesion molecules not only provide a physical link between pre- and post-synaptic membranes, but also contribute to synaptic differentiation and plasticity by organizing functional elements, in particular neurotransmitter receptors. The wealth of existing adhesive protein families including many isoforms and splice variants, calls for systematic identification of the levels and exchange rates of each of those protein members at specific synapse types. Complementary to electron microscopy to identify individual synaptic contacts and biochemistry to reveal protein-protein interactions, recent super-resolution light microscopy methods combined with appropriate fluorescent labeling provide a way to measure the dynamics and sub-micron organization of selective molecular components, and their inter-relations at the synapse...
April 16, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29673712/update-on-systemic-prostate-cancer-therapies-management-of-metastatic-castration-resistant-prostate-cancer-in-the-era-of-precision-oncology
#12
REVIEW
Philipp Nuhn, Johann S De Bono, Karim Fizazi, Stephen J Freedland, Maurizio Grilli, Philip W Kantoff, Guru Sonpavde, Cora N Sternberg, Srinivasan Yegnasubramanian, Emmanuel S Antonarakis
CONTEXT: Introduction of novel agents for the management of advanced prostate cancer provides a range of treatment options with notable benefits for men with metastatic castration-resistant prostate cancer (mCRPC). At the same time, understanding of optimal patient selection, effective sequential use, and development of resistance patterns remains incomplete. OBJECTIVE: To review current systemic therapies and recent advances in drug development for mCRPC and strategies to aid in patient selection and optimal sequencing...
April 16, 2018: European Urology
https://www.readbyqxmd.com/read/29673323/indel-detection-from-dna-and-rna-sequencing-data-with-transindel
#13
Rendong Yang, Jamie L Van Etten, Scott M Dehm
BACKGROUND: Insertions and deletions (indels) are a major class of genomic variation associated with human disease. Indels are primarily detected from DNA sequencing (DNA-seq) data but their transcriptional consequences remain unexplored due to challenges in discriminating medium-sized and large indels from splicing events in RNA-seq data. RESULTS: Here, we developed transIndel, a splice-aware algorithm that parses the chimeric alignments predicted by a short read aligner and reconstructs the mid-sized insertions and large deletions based on the linear alignments of split reads from DNA-seq or RNA-seq data...
April 19, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29673220/ultrasensitive-mach-zehnder-interferometric-temperature-sensor-based-on-liquid-filled-d-shaped-fiber-cavity
#14
Hui Zhang, Shecheng Gao, Yunhan Luo, Zhenshi Chen, Songsong Xiong, Lei Wan, Xincheng Huang, Bingsen Huang, Yuanhua Feng, Miao He, Weiping Liu, Zhe Chen, Zhaohui Li
A liquid-filled D-shaped fiber (DF) cavity serving as an in-fiber Mach–Zehnder interferometer (MZI) has been proposed and experimentally demonstrated for temperature sensing with ultrahigh sensitivity. The miniature MZI is constructed by splicing a segment of DF between two single-mode fibers (SMFs) to form a microcavity (MC) for filling and replacement of various refractive index (RI) liquids. By adjusting the effective RI difference between the DF and MC (the two interference arms), experimental and calculated results indicate that the interference spectra show different degrees of temperature dependence...
April 17, 2018: Sensors
https://www.readbyqxmd.com/read/29673180/accurate-classification-of-nf1-gene-variants-in-84-italian-patients-with-neurofibromatosis-type-1
#15
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients...
April 17, 2018: Genes
https://www.readbyqxmd.com/read/29672717/antisense-oligonucleotides-correct-the-familial-dysautonomia-splicing-defect-in-ikbkap-transgenic-mice
#16
Rahul Sinha, Young Jin Kim, Tomoki Nomakuchi, Kentaro Sahashi, Yimin Hua, Frank Rigo, C Frank Bennett, Adrian R Krainer
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5' splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination codon. Though detailed FD pathogenesis mechanisms are not yet clear, correcting the splicing defect in the relevant tissue(s), thus restoring normal expression levels of the full-length IKAP protein, could be therapeutic...
April 17, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29671950/comparative-transcriptomics-across-14-drosophila-species-reveals-signatures-of-longevity
#17
Siming Ma, Andrei S Avanesov, Emily Porter, Byung Cheon Lee, Marco Mariotti, Nadezhda Zemskaya, Roderic Guigo, Alexey A Moskalev, Vadim N Gladyshev
Lifespan varies dramatically among species, but the biological basis is not well understood. Previous studies in model organisms revealed the importance of nutrient sensing, mTOR, NAD/sirtuins, and insulin/IGF1 signaling in lifespan control. By studying life-history traits and transcriptomes of 14 Drosophila species differing more than sixfold in lifespan, we explored expression divergence and identified genes and processes that correlate with longevity. These longevity signatures suggested that longer-lived flies upregulate fatty acid metabolism, downregulate neuronal system development and activin signaling, and alter dynamics of RNA splicing...
April 19, 2018: Aging Cell
https://www.readbyqxmd.com/read/29671263/high-throughput-screening-method-to-identify-alternative-splicing-regulators
#18
Cheryl Stork, Sika Zheng
Misregulation of alternative pre-mRNA splicing contributes to various diseases. Understanding how alternative splicing is regulated paves the way to modulating or correcting molecular pathogenesis of the diseases. Alternative splicing is typically regulated by trans RNA binding proteins and their upstream modulators. Identification of these splicing regulators has been difficult and traditionally done piecemeal. High-throughput screening strategies to find multiple regulators of exon splicing have great potential to accelerate the discovery process, but typically confront low sensitivity and specificity of splicing assays...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29671102/phosphorylation-by-prp4-kinase-releases-the-self-inhibition-of-fgprp31-in-fusarium-graminearum
#19
Xuli Gao, Ju Zhang, Chaoni Song, Kangyi Yuan, Jianhua Wang, Qiaojun Jin, Jin-Rong Xu
Prp31 is one of the key tri-snRNP components essential for pre-mRNA splicing although its exact molecular function is not well studied. In a previous study, suppressor mutations were identified in the PRP31 ortholog in two spontaneous suppressors of Fgprp4 mutant deleted of the only kinase of the spliceosome in Fusarium graminearum. To further characterize the function of FgPrp31 and its relationship with FgPrp4 kinase, in this study we identified additional suppressor mutations in FgPrp31 and determined the suppressive effects of selected mutations...
April 18, 2018: Current Genetics
https://www.readbyqxmd.com/read/29670884/distinct-and-modular-organization-of-protein-interacting-sites-in-long-non-coding-rnas
#20
Saakshi Jalali, Shrey Gandhi, Vinod Scaria
Background: Long non-coding RNAs (lncRNAs), are being reported to be extensively involved in diverse regulatory roles and have exhibited numerous disease associations. LncRNAs modulate their function through interaction with other biomolecules in the cell including DNA, RNA, and proteins. The availability of genome-scale experimental datasets of RNA binding proteins (RBP) motivated us to understand the role of lncRNAs in terms of its interactions with these proteins. In the current report, we demonstrate a comprehensive study of interactions between RBP and lncRNAs at a transcriptome scale through extensive analysis of the crosslinking and immunoprecipitation (CLIP) experimental datasets available for 70 RNA binding proteins...
2018: Frontiers in Molecular Biosciences
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