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https://www.readbyqxmd.com/read/28213442/amplitude-normalization-of-dendritic-epsps-at-the-soma-of-binaural-coincidence-detector-neurons-of-the-medial-superior-olive
#1
Bradley D Winters, Shan-Xue Jin, Kenneth R Ledford, Nace L Golding
The principal neurons of the medial superior olive (MSO) encode cues for horizontal sound localization through comparisons of the relative timing of excitatory postsynaptic potentials (EPSPs). To understand how the timing and amplitude of EPSPs is maintained during propagation in the dendrites, we made dendritic and somatic whole-cell recordings from MSO principal neurons in brain slices from Mongolian gerbils. In somatic recordings, EPSP amplitudes were largely uniform following minimal stimulation of excitatory synapses at visualized locations along the dendrites...
February 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#2
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28212810/chromosomal-instability-analysis-and-regional-tumor-heterogeneity-in-colon-cancer
#3
Vincenza Barresi, Sergio Castorina, Nicolò Musso, Carmela Capizzi, Tonia Luca, Giovanna Privitera, Daniele Filippo Condorelli
Chromosomal instability (CIN) is classically defined as an increase in the rate at which numerical or structural chromosomal aberrations are acquired in a cancer cell. The number of somatic copy number abnormalities (CNAs) revealed by high resolution genomic array can be considered as a surrogate marker for CIN, but several points, related to sample processing and data analysis, need to be standardized. In this work we analyzed 51 CRC samples and matched normal mucosae by whole genome SNP arrays and compared different bioinformatics tools in order to identify broad (>25% of a chromosomal arm) and focal somatic copy number abnormalities (BCNAs and FCNAs respectively)...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28212751/stable-heritable-germline-silencing-directs-somatic-silencing-at-an-endogenous-locus
#4
Olga Minkina, Craig P Hunter
The importance of transgenerationally inherited epigenetic states to organismal fitness remains unknown as well-documented examples are often not amenable to mechanistic analysis or rely on artificial reporter loci. Here we describe an induced silenced state at an endogenous locus that persists, at 100% transmission without selection, for up to 13 generations. This unusually persistent silencing enables a detailed molecular genetic analysis of an inherited epigenetic state. We find that silencing is dependent on germline nuclear RNAi factors and post-transcriptional mechanisms...
February 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28212566/genetic-characterization-of-polish-ccrcc-patients-somatic-mutation-analysis-of-pbrm1-bap1-and-kdmc5-genomic-snp-array-analysis-in-tumor-biopsy-and-preliminary-results-of-chromosome-aberrations-analysis-in-plasma-cell-free-dna
#5
Katarzyna Kluzek, Malgorzata I Srebniak, Weronika Majer, Agnieszka Ida, Tomasz Milecki, Kinga Huminska, Robert M van der Helm, Adrian Silesian, Tomasz M Wrzesinski, Jacek Wojciechowicz, Berna H Beverloo, Zbigniew Kwias, Hans A R Bluyssen, Joanna Wesoly
BACKGROUND: Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS: We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212507/higher-severity-of-cocaine-addiction-is-associated-with-tactile-and-somatic-hallucinations
#6
C Roncero, L Grau-López, R F Palma-Álvarez, L Rodriguez-Cintas, E Ros-Cucurull, A Esojo, C Daigre
BACKGROUND: The aim of this study is to describe the features of cocaine-dependent patients who have had cocaine-induced tactile/somatic hallucinations (CITSH), and to analyze the association with addiction-related variables and psychiatric comorbidity, comparing patients with CITSH, patients with cocaine psychotic symptoms (CIP) and no CITSH, and patients without any psychotic symptom. METHOD: A cross-sectional study was conducted in 767 cocaine-dependent patients in an outpatient treatment center for addictions...
December 1, 2016: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28212441/depressive-disorder-and-gastrointestinal-dysfunction-after-myocardial-infarct-are-associated-with-abnormal-tryptophan-5-hydroxytryptamine-metabolism-in-rats
#7
Xiaofang Lu, Yuefen Wang, Chunyan Liu, Yangang Wang
In this study, we investigated the relationship between tryptophan-5-hydroxytryptamine metabolism, depressive disorder, and gastrointestinal dysfunction in rats after myocardial infarction. Our goal was to elucidate the physiopathologic bases of somatic/psychiatric depression symptoms after myocardial infarction. A myocardial infarction model was established by permanent occlusion of the left anterior descending coronary artery. Depression-like behavior was evaluated using the sucrose preference test, open field test, and forced swim test...
2017: PloS One
https://www.readbyqxmd.com/read/28211918/myotonic-dystrophy-type-1-patient-derived-ipscs-for-the-investigation-of-ctg-repeat-instability
#8
Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated and differentiated into three cell types commonly affected in DM1, namely cardiomyocytes, neurons and myocytes...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211887/germline-mutations-predisposing-to-diffuse-large-b-cell-lymphoma
#9
REVIEW
O C Leeksma, N F de Miranda, H Veelken
Genetic studies of diffuse large B-cell lymphomas (DLBCLs) in humans have revealed numerous targets of somatic mutations and an increasing number of potentially relevant germline alterations. The latter often affect genes involved in DNA repair and/or immune function. In general, defects in these genes also predispose to other conditions. Knowledge of these mutations can lead to disease-preventing measures in the patient and relatives thereof. Conceivably, these germline mutations will be taken into account in future therapy of the lymphoma...
February 17, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28211869/non-apoptotic-cell-death-in-animal-development
#10
REVIEW
Lena M Kutscher, Shai Shaham
Programmed cell death (PCD) is an important process in the development of multicellular organisms. Apoptosis, a form of PCD characterized morphologically by chromatin condensation, membrane blebbing, and cytoplasm compaction, and molecularly by the activation of caspase proteases, has been extensively investigated. Studies in Caenorhabditis elegans, Drosophila, mice, and the developing chick have revealed, however, that developmental PCD also occurs through other mechanisms, morphologically and molecularly distinct from apoptosis...
February 17, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28211557/associations-of-selected-lower-urinary-tract-symptoms-with-biographical-context-in-patients-of-a-day-hospital-for-neurotic-disorders
#11
Michał Skalski, Jerzy A Sobański, Tomasz Golabek, Agata Świerkosz, Katarzyna Klasa, Mikołaj Przydacz, Krzysztof Rutkowski, Edyta Dembińska, Michał Mielimąka, Katarzyna Cyranka, Piotr Chłosta, Dominika Dudek
OBJECTIVES: To assess the correlation of subjectively estimated biographical context and lower urinary tract symptoms reported by patients with neurotic and personality disorders. METHODS: This was a retrospective analysis of the biographical context of co-existence of urinary frequency and urinary incontinence reported by 3,929 patients in a day hospital for treatment of neurotic disorders. The symptom checklists KO "0" were completed by patients prior to any treatment...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28211057/reproductive-energy-expenditure-and-changes-in-body-morphology-for-a-population-of-chinook-salmon-oncorhynchus-tshawytscha-with-a-long-distance-migration
#12
T E Bowerman, A Pinson-Dumm, C A Peery, C C Caudill
Energetic demands of a long freshwater migration, extended holding period, gamete development and spawning were evaluated for a population of stream-type Chinook salmon Oncorhynchus tshawytscha. Female and male somatic mass decreased by 24 and 21%, respectively, during migration and by an additional 18 and 12% during holding. Between freshwater entry and death after spawning, females allocated 14% of initial somatic energy towards gonad development and 78% for metabolism (46, 25 and 7% during migration, holding and spawning, respectively)...
February 16, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28210809/growth-dynamics-of-juvenile-loggerhead-sea-turtles-undergoing-an-ontogenetic-habitat-shift
#13
Matthew D Ramirez, Larisa Avens, Jeffrey A Seminoff, Lisa R Goshe, Selina S Heppell
Ontogenetic niche theory predicts that individuals may undergo one or more changes in habitat or diet throughout their lifetime to maintain optimal growth rates, or to optimize trade-offs between mortality risk and growth. We combine skeletochronological and stable nitrogen isotope (δ(15)N) analyses of sea turtle humeri (n = 61) to characterize the growth dynamics of juvenile loggerhead sea turtles (Caretta caretta) during an oceanic-to-neritic ontogenetic shift. The primary objective of this study was to determine how ontogenetic niche theory extends to sea turtles, and to individuals with different patterns of resource use (discrete shifters, n = 23; facultative shifters n = 14; non-shifters, n = 24)...
February 16, 2017: Oecologia
https://www.readbyqxmd.com/read/28209900/dna-damage-is-a-pervasive-cause-of-sequencing-errors-directly-confounding-variant-identification
#14
Lixin Chen, Pingfang Liu, Thomas C Evans, Laurence M Ettwiller
Mutations in somatic cells generate a heterogeneous genomic population and may result in serious medical conditions. Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies. Here, we show that mutagenic damage accounts for the majority of the erroneous identification of variants with low to moderate (1 to 5%) frequency. More important, we found signatures of damage in most sequencing data sets in widely used resources, including the 1000 Genomes Project and The Cancer Genome Atlas, establishing damage as a pervasive cause of sequencing errors...
February 17, 2017: Science
https://www.readbyqxmd.com/read/28208660/splice-variants-of-the-rtk-family-their-role-in-tumour-progression-and-response-to-targeted-therapy
#15
REVIEW
Cherine Abou-Fayçal, Anne-Sophie Hatat, Sylvie Gazzeri, Beatrice Eymin
Receptor tyrosine kinases (RTKs) belong to a family of transmembrane receptors that display tyrosine kinase activity and trigger the activation of downstream signalling pathways mainly involved in cell proliferation and survival. RTK amplification or somatic mutations leading to their constitutive activation and oncogenic properties have been reported in various tumour types. Numerous RTK-targeted therapies have been developed to counteract this hyperactivation. Alternative splicing of pre-mRNA has recently emerged as an important contributor to cancer development and tumour maintenance...
February 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28208214/pathogenesis-of-enuresis-towards-a-new-understanding
#16
REVIEW
Tryggve Nevéus
Enuresis was historically viewed as a primarily psychiatric disorder, but this understanding has changed dramatically since the end of the last century, when it became clear that somatic factors, such as nocturnal polyuria as a result of vasopressin deficiency, nocturnal detrusor overactivity and high arousal thresholds, all play a crucial role in enuresis pathogenesis. It has also become clear that enuresis is inherited in the majority of cases, although the correlation between genotype and enuretic phenotype is not straightforward...
February 16, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28207760/preferential-expression-of-scores-of-functionally-and-evolutionarily-diverse-dna-and-rna-binding-proteins-during-oxytricha-trifallax-macronuclear-development
#17
Zachary T Neeb, Daniel J Hogan, Sol Katzman, Alan M Zahler
During its sexual reproduction, the stichotrichous ciliate Oxytricha trifallax orchestrates a remarkable transformation of one of the newly formed germline micronuclear genomes. Hundreds of thousands of gene pieces are stitched together, excised from chromosomes, and replicated dozens of times to yield a functional somatic macronuclear genome composed of ~16,000 distinct DNA molecules that typically encode a single gene. Little is known about the proteins that carry out this process. We profiled mRNA expression as a function of macronuclear development and identified hundreds of mRNAs preferentially expressed at specific times during the program...
2017: PloS One
https://www.readbyqxmd.com/read/28207519/influence-of-sleep-disorders-on-somatic-symptoms-mental-health-and-quality-of-life-in-patients-with-chronic-constipation
#18
Ya Jiang, Yu-Rong Tang, Chen Xie, Ting Yu, Wen-Jie Xiong, Lin Lin
BACKGROUND: Sleep disturbance is a common symptom in CC patients, and it is positively related to greater somatic and psychiatric symptoms. METHODS: The participants were 126 adult outpatients with CC. The measures were: constipation-Constipation Scoring System (CSS) and Patient Assessment of Constipation-Symptoms (PAC-SYM); sleep-Pittsburgh Sleep Quality Index (PSQI); anxiety-General Anxiety Disorder-7 (GAD-7); depression-Patient Health Questionnaire-9 (PHQ-9); and QOL-Patient Assessment of Constipation Quality of Life (PAC-QOL) and SF-36...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28205231/analysis-of-ctdna-to-predict-prognosis-and-monitor-treatment-responses-in-metastatic-pancreatic-cancer-patients
#19
He Cheng, Chen Liu, Jiahao Jiang, Guopei Luo, Yu Lu, Kaizhou Jin, Meng Guo, Zhenzhen Zhang, Jin Xu, Liang Liu, Quanxing Ni, Xianjun Yu
Cell-free circulating tumor DNA (ctDNA) in plasma has been used as a potential noninvasive biomarker for various tumors. The current study was performed to evaluate the clinical implications of ctDNA detection in patients with metastatic pancreatic cancer. Firstly, we attempted to prospectively screen a panel of 60 genes in cell-free DNA (cfDNA) from ten metastatic pancreatic cancer patients via exome sequencing. Secondly, droplet digital PCR (ddPCR) was used to identify potential mutations in a cohort of 188 patients with metastatic pancreatic cancer...
February 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28203794/embryonic-poly-a-binding-protein-is-required-at-the-preantral-stage-of-mouse-folliculogenesis-for-oocyte-somatic-communication%C3%A2
#20
Katie M Lowther, Federico Favero, Cai-Rong Yang, Hugh S Taylor, Emre Seli
No abstract text is available yet for this article.
February 1, 2017: Biology of Reproduction
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