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https://www.readbyqxmd.com/read/29342242/meiotic-spindle-formation-in-mammalian-oocytes-implications-for-human-infertility
#1
Suk Namgoong, Nam-Hyung Kim
In the final stage of oogenesis, mammalian oocytes generate a meiotic spindle and undergo chromosome segregation to yield an egg that is ready for fertilization. Herein, we describe the recent advances in understanding the mechanisms controlling formation of the meiotic spindle in metaphase I (MI) and metaphase II (MII) in mammalian oocytes, and focus on the differences between mouse and human oocytes. Unlike mitotic cells, mammalian oocytes lack typical centrosomes that consist of two centrioles and the surrounding pericentriolar matrix proteins (PCM), which serve as microtubule-organizing centers (MTOCs) in most somatic cells...
January 12, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29342173/hormone-induced-differential-transcriptome-analysis-of-sertoli-cells-during-postnatal-maturation-of-rat-testes
#2
Mukesh Gautam, Indrashis Bhattacharya, Umesh Rai, Subeer S Majumdar
Sertoli cells (Sc) are unique somatic cells of testis that are the target of both FSH and testosterone (T) and regulate spermatogenesis. Although Sc of neonatal rat testes are exposed to high levels of FSH and T, robust differentiation of spermatogonial cells becomes conspicuous only after 11-days of postnatal age. We have demonstrated earlier that a developmental switch in terms of hormonal responsiveness occurs in rat Sc at around 12 days of postnatal age during the rapid transition of spermatogonia A to B...
2018: PloS One
https://www.readbyqxmd.com/read/29341884/acute-stress-persistently-alters-locus-coeruleus-function-and-anxiety-like-behavior-in-adolescent-rats
#3
Olga Borodovitsyna, Matthew D Flamini, Daniel J Chandler
Stress is a physiological state characterized by altered neuroendocrine signaling, behavioral arousal, and anxiety. Chronic or traumatic stress may predispose individuals for multiple somatic and psychiatric illnesses. The locus coeruleus (LC) is a major node in the stress response that integrates input from multiple stress responsive neural circuits and releases norepinephrine throughout the central nervous system to promote vigilance and anxiety. Many mood disorders associated with prior stress are characterized by chronically altered noradrenergic signaling, yet the long-term impact of an acute stressor on LC function is not clear...
January 13, 2018: Neuroscience
https://www.readbyqxmd.com/read/29341473/somatic-mosaic-deletions-involving-scn1a-cause-dravet-syndrome
#4
Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shinichi Hirose
Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25-40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341361/parvalbumin-interneuron-mediated-feedforward-inhibition-controls-signal-output-in-the-deep-layers-of-the-perirhinal-entorhinal-cortex
#5
Janske G P Willems, Wytse J Wadman, Natalie L M Cappaert
The perirhinal (PER) and lateral entorhinal (LEC) cortex form an anatomical link between the neocortex and the hippocampus. However, neocortical activity is transmitted through the PER and LEC to the hippocampus with a low probability, suggesting the involvement of the inhibitory network. This study explored the role of interneuron mediated inhibition, activated by electrical stimulation in the agranular insular cortex (AiP), in the deep layers of the PER and LEC. Activated synaptic input by AiP stimulation rarely evoked action potentials in the PER-LEC deep layer excitatory principal neurons, most probably because the evoked synaptic response consisted of a small excitatory and large inhibitory conductance...
January 17, 2018: Hippocampus
https://www.readbyqxmd.com/read/29341334/incidence-and-prognostic-impact-of-cytogenetic-aberrations-in-patients-with-systemic-mastocytosis
#6
Nicole Naumann, Mohamad Jawhar, Juliana Schwaab, Sebastian Kluger, Johannes Lübke, Georgia Metzgeroth, Henning D Popp, Nada Khaled, Hans-Peter Horny, Karl Sotlar, Peter Valent, Claudia Haferlach, Gudrun Göhring, Brigitte Schlegelberger, Manja Meggendorfer, Wolf-Karsten Hofmann, Nicholas C P Cross, Andreas Reiter, Alice Fabarius
The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, e.g. in SRSF2, ASXL1 or RUNX1. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However, little is known about the incidence and prognostic impact of cytogenetic aberrations. We analyzed cytogenetic and molecular characteristics of 109 patients (KIT D816V+, n=102, 94%) with indolent (ISM, n=26) and advanced SM (n=83) with (n=73, 88%) or without AHN...
January 17, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29341270/pre-transplant-depression-in-lung-recipients-a-lost-battle
#7
Ivan Knezevic, Bojan Zalar
What have we learned so far about the relationship of the recipient's pre-transplant depression and his survival after lung transplantation? First, every chronic disease is always accompanied by somatic changes, functional limitations and emotional, cognitive and social changes as part of the disease. From the first symptoms, to the time of diagnosis of the chronic disease with the expected future, the patient is exposed to the terrible stress of denying and accepting life with a serious chronic illness whose end result is death...
January 16, 2018: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/29341070/personality-changes-during-the-transition-from-cognitive-health-to-mild-cognitive-impairment
#8
Richard J Caselli, Blake T Langlais, Amylou C Dueck, Bruce R Henslin, Travis A Johnson, Bryan K Woodruff, Charlene Hoffman-Snyder, Dona E C Locke
BACKGROUND/OBJECTIVES: Behavioral problems in individuals with Alzheimer's disease (AD) impose major management challenges. Current prevention strategies are anchored to cognitive outcomes, but behavioral outcomes may provide another, clinically relevant opportunity for preemptive therapy. We sought to determine whether personality changes that predispose to behavioral disorders arise during the transition from preclinical AD to mild cognitive impairment (MCI). DESIGN: Longitudinal observational cohort study...
January 17, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29340879/diethylstilbestrol-arrested-spermatogenesis-and-somatic-growth-in-the-juveniles-of-yellow-catfish-pelteobagrus-fulvidraco-a-fish-with-sexual-dimorphic-growth
#9
Zhi-Hao Liu, Qi-Liang Chen, Qiang Chen, Fang Li, Ying-Wen Li
In fish, spermatogenesis and somatic growth are mainly regulated by hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-somatic (HPS) axes, respectively. Xenoestrogens have been reported to impair spermatogenesis in some fishes, and arrest somatic growth in some others, whereas, whether xenoestrogens are capable of disrupting spermatogenesis and somatic growth simultaneously in fish that exhibits sexual dimorphic growth is little known, and the underlying mechanisms remain poorly understood. In this study, male juveniles of yellow catfish (Pelteobagrus fulvidraco), which exhibits a sexual dimorphic growth that favors males, were exposed to diethylstilbestrol (DES) for 28 days...
January 16, 2018: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/29340215/genome-stability-maintenance-in-naked-mole-rat
#10
I O Petruseva, A N Evdokimov, O I Lavrik
The naked mole-rat (Heterocephalus glaber) is one of the most promising models used to study genome maintenance systems, including the effective repair of damage to DNA. The naked mole-rat is the longest lived rodent species, which is extraordinarily resistant to cancer and has a number of other unique phenotypic traits. For at least 80% of its lifespan, this animal shows no signs of aging or any increased likelihood of death and retains the ability to reproduce. The naked mole-rat draws the heightened attention of researchers who study the molecular basis of lengthy lifespan and cancer resistance...
October 2017: Acta Naturae
https://www.readbyqxmd.com/read/29340115/hypermutation-and-microsatellite-instability-in-gastrointestinal-cancers
#11
REVIEW
Kizuki Yuza, Masayuki Nagahashi, Satoshi Watanabe, Kazuaki Takabe, Toshifumi Wakai
Recent progress in cancer genome analysis using next-generation sequencing has revealed a high mutation burden in some tumors. The particularly high rate of somatic mutation in these tumors correlates with the generation of neo-antigens capable of eliciting an immune response. Identification of hypermutated tumors is therefore clinically valuable for selecting patients suitable for immunotherapy treatment. There are several known causes of hypermutation in tumors, such as ultraviolet light in melanoma, tobacco smoke in lung cancer, and excessive APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like) activity in breast and gastric cancer...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340104/somatic-mutation-dynamics-in-mds-patients-treated-with-azacitidine-indicate-clonal-selection-in-patients-responders
#12
Kamila Polgarova, Karina Vargova, Vojtech Kulvait, Nina Dusilkova, Lubomir Minarik, Zuzana Zemanova, Michal Pesta, Anna Jonasova, Tomas Stopka
Azacitidine (AZA) for higher risk MDS patients is a standard therapy with limited durability. To monitor mutation dynamics during AZA therapy we utilized massive parallel sequencing of 54 genes previously associated with MDS/AML pathogenesis. Serial sampling before and during AZA therapy of 38 patients (reaching median overall survival 24 months (Mo) with 60% clinical responses) identified 116 somatic pathogenic variants with allele frequency (VAF) exceeding 5%. High accuracy of data was achieved via duplicate libraries from myeloid cells and T-cell controls...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340043/clinical-significance-of-yap1-activation-in-head-and-neck-squamous-cell-carcinoma
#13
Young-Gyu Eun, Dongjin Lee, Young Chan Lee, Bo Hwa Sohn, Eui Hyun Kim, Sun Young Yim, Kee Hwan Kwon, Ju-Seog Lee
By analyzing the genomic data of head and neck squamous cell cancer (HNSCC), we investigated clinical significance of YAP1 activation. Copy number and mRNA expression of YAP1 were analyzed together to assess clinical relevance of YAP1 activation in HNSCC. The clinical significance of YAP1 activation was further validated in four independent test cohorts. We also assessed the correlation of YAP1 activation with genomic alterations such as copy number alteration, somatic mutation, and miRNA expression. The YAP1-activated (YA) subgroup showed worse prognosis for HNSCC as tested and validated in five cohorts...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339985/butterfly-sprint-swimming-technique-analysis-of-somatic-and-spatial-temporal-coordination-variables
#14
Marek Strzała, Arkadiusz Stanula, Piotr Krężałek, Andrzej Ostrowski, Marcin Kaca, Grzegorz Głąb
The aim of this study was to investigate somatic properties and force production of leg extensor muscles measured in the countermovement jump test (CMJ), as well as to analyse kinematic variables of sprint surface butterfly swimming. Thirty-four male competitive swimmers were recruited with an average age of 19.3 ± 1.83 years. Their average body height (BH) was 183.7 ± 5.93 cm, body fat content 10.8 ± 2.64% and body mass (BM) 78.3 ± 5.0 kg. Length measurements of particular body segments were taken and a counter movement jump (CMJ) as well as an all-out 50 m butterfly speed test were completed...
December 2017: Journal of Human Kinetics
https://www.readbyqxmd.com/read/29339978/increase-of-somatic-cell-mutations-in-oxidative-damage-sensitive-drosophila
#15
Ryota Koike, Tomoyo Uchiyama, Sakae Arimoto-Kobayashi, Keinosuke Okamoto, Tomoe Negishi
Background: Oxidative damage is an important genotoxic source for almost all organisms. To efficiently detect mutations induced by oxidative damage, we previously developed a urate-null Drosophila strain. Using this Drosophila strain, we showed the mutagenic activity of environmental cigarette smoke (ECS) and the herbicide paraquat, which are known to produce reactive oxygen species (ROS). In the present study, we examined the mutagenic activities of carcinogenic mutagens that are considered to cause mutations by adduct formation, alkylation, or crosslinking of cellular DNA in the oxidative damage-sensitive Drosophila to evaluate how the oxidative damage induced by these mutagens is involved in causing mutations...
2018: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/29339498/mafa-missense-mutation-causes-familial-insulinomatosis-and-diabetes-mellitus
#16
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339439/idh1-2-mutations-sensitize-acute-myeloid-leukemia-to-parp-inhibition-and-this-is-reversed-by-idh1-2-mutant-inhibitors
#17
Remco J Molenaar, Tomas Radivoyevitch, Yasunobu Nagata, Mohammed Khurshed, Bartlomiej Przychodzen, Hideki Makishima, Mingjiang Xu, Fonnet E Bleeker, Johanna W Wilmink, Hetty Carraway, Sudipto Mukherjee, Mikkael A Sekeres, Cornelis J F Van Noorden, Jaroslaw P Maciejewski
PURPOSE: Somatic mutations in IDH1/2 occur in ~20% of patients with myeloid neoplasms, including acute myeloid leukemia (AML). IDH1/2MUT enzymes produce D-2-hydroxyglutarate (D2HG), which associates with increases in DNA damage and improved responses to chemo/radiotherapy and PARP inhibitors in solid tumor cells. Whether this also holds true for IDH1/2MUT AML is not known. EXPERIMENTAL DESIGN: Well-characterized primary IDH1MUT, IDH2MUT and IDH1/2WT AML cells were analyzed for DNA damage and responses to daunorubicin, ionizing radiation and PARP inhibitors...
January 16, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29339376/tumor-immunity-and-survival-as-a-function-of-alternative-neopeptides-in-human-cancer
#18
Andrew J Rech, David Balli, Alejandro Mantero, Hemant Ishwaran, Katherine L Nathanson, Ben Z Stanger, Robert H Vonderheide
The immune system exerts antitumor activity via T cell-dependent recognition of tumor-specific antigens. Although the number of tumor neopeptides - peptides derived from somatic mutations - often correlates with immune activity and survival, most classically defined high-affinity neopeptides (CDNs) are not immunogenic, and only rare CDNs have been linked to tumor rejection. Thus, the rules of tumor antigen recognition remain incompletely understood. Here, we analyzed neopeptides, immune activity, and clinical outcome from 6,324 patients across 27 tumor types...
January 16, 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#19
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29337907/few-sex-differences-in-hospitalized-suicide-attempters-aged-70-and-above
#20
Stefan Wiktorsson, Therese Rydberg Sterner, Madeleine Mellqvist Fässberg, Ingmar Skoog, Anne Ingeborg Berg, Paul Duberstein, Kimberly Van Orden, Margda Waern
Relatively little research attention has been paid to sex issues in late life suicidal behaviour. The aim was to compare clinical characteristics of women and men aged 70+ who were hospitalized after a suicide attempt. We hypothesized higher depression and anxiety scores in women, and we expected to find that men would more often attribute the attempt to health problems and compromised autonomy. Participants (56 women and 47 men, mean age 80) were interviewed by a psychologist. In addition to psychiatric and somatic health assessments, participants responded to an open-ended question concerning attributions of the attempt...
January 16, 2018: International Journal of Environmental Research and Public Health
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