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Acta Neuropathologica

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https://www.readbyqxmd.com/read/28823042/a-specific-antibody-to-detect-transcription-factor-t-pit-a-reliable-marker-of-corticotroph-cell-differentiation-and-a-tool-to-improve-the-classification-of-pituitary-neuroendocrine-tumours
#1
LETTER
Evelina Sjöstedt, Jens Bollerslev, Jan Mulder, Cecilia Lindskog, Fredrik Pontén, Olivera Casar-Borota
No abstract text is available yet for this article.
August 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28821944/the-2017-world-health-organization-classification-of-tumors-of-the-pituitary-gland-a-summary
#2
REVIEW
M Beatriz S Lopes
The 4th edition of the World Health Organization (WHO) classification of endocrine tumors has been recently released. In this new edition, major changes are recommended in several areas of the classification of tumors of the anterior pituitary gland (adenophypophysis). The scope of the present manuscript is to summarize these recommended changes, emphasizing a few significant topics. These changes include the following: (1) a novel approach for classifying pituitary neuroendocrine tumors according to pituitary adenohypophyseal cell lineages; (2) changes to the histological grading of pituitary neuroendocrine tumors with the elimination of the term "atypical adenoma;" and (3) introduction of new entities like the pituitary blastoma and re-definition of old entities like the null-cell adenoma...
August 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28815304/reduced-histone-h3-k27-trimethylation-is-encountered-in-about-50-of-atypical-teratoid-rhabdoid-tumors-at-rt-but-is-not-associated-with-molecular-subgroup-status-and-outcome
#3
LETTER
Martin Hasselblatt, Pascal D Johann, Marcel Kool, Michael C Frühwald
No abstract text is available yet for this article.
August 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28808785/conserved-dna-methylation-combined-with-differential-frontal-cortex-and-cerebellar-expression-distinguishes-c9orf72-associated-and-sporadic-als-and-implicates-serpina1-in-disease
#4
Mark T W Ebbert, Christian A Ross, Luc J Pregent, Rebecca J Lank, Cheng Zhang, Rebecca B Katzman, Karen Jansen-West, Yuping Song, Edroaldo Lummertz da Rocha, Carla Palmucci, Pamela Desaro, Amelia E Robertson, Ana M Caputo, Dennis W Dickson, Kevin B Boylan, Rosa Rademakers, Tamas Ordog, Hu Li, Veronique V Belzil
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease...
August 14, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28803412/alpha-synuclein-oligomers-a-new-hope
#5
REVIEW
Nora Bengoa-Vergniory, Rosalind F Roberts, Richard Wade-Martins, Javier Alegre-Abarrategui
Alpha-synuclein is a protein implicated in Parkinson's disease and thought to be one of the main pathological drivers in the disease, although it remains unclear how this protein elicits its neurotoxic effects. Recent findings indicate that the assembly of toxic oligomeric species of alpha-synuclein may be one of the key processes for the pathology and spread of the disease. The absence of a sensitive in situ detection method has hindered the study of these oligomeric species and the role they play in the human brain until recently...
August 12, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28803398/brainstem-angiocentric-gliomas-with-myb-qki-rearrangements
#6
LETTER
Laura D'Aronco, Cécile Rouleau, Tenzin Gayden, Louis Crevier, Jean-Claude Décarie, Sébastien Perreault, Nada Jabado, Pratiti Bandopadhayay, Keith L Ligon, Benjamin Ellezam
No abstract text is available yet for this article.
August 12, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28801693/grading-of-diffuse-astrocytic-gliomas-broders-kernohan-z%C3%A3-lch-the-who%C3%A2-and-shakespeare
#7
David N Louis, Andreas von Deimling
No abstract text is available yet for this article.
August 11, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28786000/the-importance-of-developing-strain-specific-models-of-neurodegenerative-disease
#8
LETTER
Amanda L Woerman
No abstract text is available yet for this article.
August 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28780615/a-knock-in-knock-out-mouse-model-of-hspb8-associated-distal-hereditary-motor-neuropathy-and-myopathy-reveals-toxic-gain-of-function-of-mutant-hspb8
#9
Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils...
August 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28776091/angiocentric-glioma-with-myb-qki-fusion-located-in-the-brainstem-rather-than-cerebral-cortex
#10
LETTER
Emily Chan, Andrew W Bollen, Deepika Sirohi, Jessica Van Ziffle, James P Grenert, Cassie N Kline, Tarik Tihan, Arie Perry, Nalin Gupta, David A Solomon
No abstract text is available yet for this article.
August 3, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28766011/rnai-screen-identifies-essential-regulators-of-human-brain-metastasis-initiating-cells
#11
Mohini Singh, Chitra Venugopal, Tomas Tokar, Kevin R Brown, Nicole McFarlane, David Bakhshinyan, Thusyanth Vijayakumar, Branavan Manoranjan, Sujeivan Mahendram, Parvez Vora, Maleeha Qazi, Manvir Dhillon, Amy Tong, Kathrin Durrer, Naresh Murty, Robin Hallet, John A Hassell, David R Kaplan, Jean-Claude Cutz, Igor Jurisica, Jason Moffat, Sheila K Singh
Brain metastases (BM) are the most common brain tumor in adults and are a leading cause of cancer mortality. Metastatic lesions contain subclones derived from their primary lesion, yet their functional characterization is limited by a paucity of preclinical models accurately recapitulating the metastatic cascade, emphasizing the need for a novel approach to BM and their treatment. We identified a unique subset of stem-like cells from primary human patient brain metastases, termed brain metastasis-initiating cells (BMICs)...
August 1, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28762187/the-choroid-plexus-is-a-key-cerebral-invasion-route-for-t-cells-after-stroke
#12
Gemma Llovera, Corinne Benakis, Gaby Enzmann, Ruiyao Cai, Thomas Arzberger, Alireza Ghasemigharagoz, Xiang Mao, Rainer Malik, Ivana Lazarevic, Sabine Liebscher, Ali Ertürk, Lilja Meissner, Denis Vivien, Christof Haffner, Nikolaus Plesnila, Joan Montaner, Britta Engelhardt, Arthur Liesz
Neuroinflammation contributes substantially to stroke pathophysiology. Cerebral invasion of peripheral leukocytes-particularly T cells-has been shown to be a key event promoting inflammatory tissue damage after stroke. While previous research has focused on the vascular invasion of T cells into the ischemic brain, the choroid plexus (ChP) as an alternative cerebral T-cell invasion route after stroke has not been investigated. We here report specific accumulation of T cells in the peri-infarct cortex and detection of T cells as the predominant population in the ipsilateral ChP in mice as well as in human post-stroke autopsy samples...
July 31, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28756524/muscle-satellite-cells-are-functionally-impaired-in-myasthenia-gravis-consequences-on-muscle-regeneration
#13
Mohamed Attia, Marie Maurer, Marieke Robinet, Fabien Le Grand, Elie Fadel, Rozen Le Panse, Gillian Butler-Browne, Sonia Berrih-Aknin
Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. The aim of this study was to characterise the functional properties of myasthenic SCs as well as their abilities in muscle regeneration. SCs were isolated from muscle biopsies of MG patients and age-matched controls...
July 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28755208/persistent-microglial-activation-and-synaptic-loss-with-behavioral-abnormalities-in-mouse-offspring-exposed-to-caspr2-antibodies-in-utero
#14
Ester Coutinho, David A Menassa, Leslie Jacobson, Steven J West, Joana Domingos, Teresa C Moloney, Bethan Lang, Paul J Harrison, David L H Bennett, David Bannerman, Angela Vincent
Gestational transfer of maternal antibodies against fetal neuronal proteins may be relevant to some neurodevelopmental disorders, but until recently there were no proteins identified. We recently reported a fivefold increase in CASPR2-antibodies in mid-gestation sera from mothers of children with intellectual and motor disabilities. Here, we exposed mice in utero to purified IgG from patients with CASPR2-antibodies (CASPR2-IgGs) or from healthy controls (HC-IgGs). CASPR2-IgG but not HC-IgG bound to fetal brain parenchyma, from which CASPR2-antibodies could be eluted...
July 28, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28733933/immunohistochemical-analysis-of-h3k27me3-demonstrates-global-reduction-in-group-a-childhood-posterior-fossa-ependymoma-and-is-a-powerful-predictor-of-outcome
#15
Pooja Panwalkar, Jonathan Clark, Vijay Ramaswamy, Debra Hawes, Fusheng Yang, Christopher Dunham, Stephen Yip, Juliette Hukin, Yilun Sun, Matthew J Schipper, Lukas Chavez, Ashley Margol, Melike Pekmezci, Chan Chung, Adam Banda, Jill M Bayliss, Sarah J Curry, Mariarita Santi, Fausto J Rodriguez, Matija Snuderl, Matthias A Karajannis, Amanda M Saratsis, Craig M Horbinski, Anne-Sophie Carret, Beverly Wilson, Donna Johnston, Lucie Lafay-Cousin, Shayna Zelcer, David Eisenstat, Marianna Silva, Katrin Scheinemann, Nada Jabado, P Daniel McNeely, Marcel Kool, Stefan M Pfister, Michael D Taylor, Cynthia Hawkins, Andrey Korshunov, Alexander R Judkins, Sriram Venneti
Posterior fossa ependymomas (EPN_PF) in children comprise two morphologically identical, but biologically distinct tumor entities. Group-A (EPN_PFA) tumors have a poor prognosis and require intensive therapy. In contrast, group-B tumors (EPN_PFB) exhibit excellent prognosis and the current consensus opinion recommends future clinical trials to test the possibility of treatment de-escalation in these patients. Therefore, distinguishing these two tumor subtypes is critical. EPN_PFA and EPN_PFB can be distinguished based on DNA methylation signatures, but these assays are not routinely available...
July 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28725968/microglial-mediated-pdgf-cc-activation-increases-cerebrovascular-permeability-during-ischemic-stroke
#16
Enming Joseph Su, Chunzhang Cao, Linda Fredriksson, Ingrid Nilsson, Christina Stefanitsch, Tamara K Stevenson, Juanjuan Zhao, Margret Ragsdale, Yu-Yo Sun, Manuel Yepes, Chia-Yi Kuan, Ulf Eriksson, Dudley K Strickland, Daniel A Lawrence, Li Zhang
Treatment of acute ischemic stroke with the thrombolytic tissue plasminogen activator (tPA) can significantly improve neurological outcomes; however, thrombolytic therapy is associated with an increased risk of intra-cerebral hemorrhage (ICH). Previously, we demonstrated that during stroke tPA acting on the parenchymal side of the neurovascular unit (NVU) can increase blood-brain barrier (BBB) permeability and ICH through activation of latent platelet-derived growth factor-CC (PDGF-CC) and signaling by the PDGF receptor-α (PDGFRα)...
July 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28725967/%C3%AE-synuclein-transfer-between-neurons-and-astrocytes-indicates-that-astrocytes-play-a-role-in-degradation-rather-than-in-spreading
#17
Frida Loria, Jessica Y Vargas, Luc Bousset, Sylvie Syan, Audrey Salles, Ronald Melki, Chiara Zurzolo
Recent evidence suggests that disease progression in Parkinson's disease (PD) could occur by the spreading of α-synuclein (α-syn) aggregates between neurons. Here we studied the role of astrocytes in the intercellular transfer and fate of α-syn fibrils, using in vitro and ex vivo models. α-Syn fibrils can be transferred to neighboring cells; however, the transfer efficiency changes depending on the cell types. We found that α-syn is efficiently transferred from astrocytes to astrocytes and from neurons to astrocytes, but less efficiently from astrocytes to neurons...
July 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28725965/medulloblastoma-experimental-models-and-reality
#18
REVIEW
Julia E Neumann, Fredrik J Swartling, Ulrich Schüller
Medulloblastoma is the most frequent malignant brain tumor in childhood, but it may also affect infants, adolescents, and young adults. Recent advances in the understanding of the disease have shed light on molecular and clinical heterogeneity, which is now reflected in the updated WHO classification of brain tumors. At the same time, it is well accepted that preclinical research and clinical trials have to be subgroup-specific. Hence, valid models have to be generated specifically for every medulloblastoma subgroup to properly mimic molecular fingerprints, clinical features, and responsiveness to targeted therapies...
July 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28685323/microglia-contribute-to-normal-myelinogenesis-and-to-oligodendrocyte-progenitor-maintenance-during-adulthood
#19
Nora Hagemeyer, Klara-Maria Hanft, Maria-Anna Akriditou, Nicole Unger, Eun S Park, E Richard Stanley, Ori Staszewski, Leda Dimou, Marco Prinz
Whereas microglia involvement in virtually all brain diseases is well accepted their role in the control of homeostasis in the central nervous system (CNS) is mainly thought to be the maintenance of neuronal function through the formation, refinement, and monitoring of synapses in both the developing and adult brain. Although the prenatal origin as well as the neuron-centered function of cortical microglia has recently been elucidated, much less is known about a distinct amoeboid microglia population formerly described as the "fountain of microglia" that appears only postnatally in myelinated regions such as corpus callosum and cerebellum...
July 6, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28685322/affected-female-carriers-of-mtm1-mutations-display-a-wide-spectrum-of-clinical-and-pathological-involvement-delineating-diagnostic-clues
#20
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Tanya Stojkovic, Osorio Abath Neto, Sandra Mercier, Nicol Voermans, Laura Tanner, Curtis Rogers, Elisabeth Ollagnon-Roman, Helen Roper, Célia Boutte, Shay Ben-Shachar, Xavière Lornage, Nasim Vasli, Elise Schaefer, Pascal Laforet, Jean Pouget, Alexandre Moerman, Laurent Pasquier, Pascale Marcorelle, Armelle Magot, Benno Küsters, Nathalie Streichenberger, Christine Tranchant, Nicolas Dondaine, Raphael Schneider, Claire Gasnier, Nadège Calmels, Valérie Kremer, Karine Nguyen, Julie Perrier, Erik Jan Kamsteeg, Pierre Carlier, Robert-Yves Carlier, Julie Thompson, Anne Boland, Jean-François Deleuze, Michel Fardeau, Edmar Zanoteli, Bruno Eymard, Jocelyn Laporte
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels...
July 6, 2017: Acta Neuropathologica
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