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  1. Article: A microglia clonal inflammatory disorder in Alzheimer's Disease.

    Vicario, Rocio / Fragkogianni, Stamatina / Weber, Leslie / Lazarov, Tomi / Hu, Yang / Hayashi, Samantha Y / Craddock, Barbara P / Socci, Nicholas D / Alberdi, Araitz / Baako, Ann / Ay, Oyku / Ogishi, Masato / Lopez-Rodrigo, Estibaliz / Kappagantula, Rajya / Viale, Agnes / Iacobuzio-Donahue, Christine A / Zhou, Ting / Ransohoff, Richard M / Chesworth, Richard /
    Bank, Netherlands Brain / Abdel-Wahab, Omar / Boisson, Bertrand / Elemento, Olivier / Casanova, Jean-Laurent / Miller, W Todd / Geissmann, Frederic

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role in neurodegenerative processes such as Alzheimer's Disease (AD). Here we report ... ...

    Abstract Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role in neurodegenerative processes such as Alzheimer's Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both
    Language English
    Publishing date 2024-01-25
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.25.577216
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.

    Chen, Judy / Ngo, Alexander / Rodríguez-Cruces, Raúl / Royer, Jessica / Caligiuri, Maria Eugenia / Gambardella, Antonio / Concha, Luis / Keller, Simon S / Cendes, Fernando / Yasuda, Clarissa L / Alvim, Marina K M / Bonilha, Leonardo / Gleichgerrcht, Ezequiel / Focke, Niels K / Kreilkamp, Barbara / Domin, Martin / von Podewils, Felix / Langner, Soenke / Rummel, Christian /
    Wiest, Roland / Martin, Pascal / Kotikalapudi, Raviteja / Bender, Benjamin / O'Brien, Terence J / Sinclair, Benjamin / Vivash, Lucy / Kwan, Patrick / Desmond, Patricia M / Lui, Elaine / Duma, Gian Marco / Bonanni, Paolo / Ballerini, Alice / Vaudano, Anna Elisabetta / Meletti, Stefano / Tondelli, Manuela / Alhusaini, Saud / Doherty, Colin P / Cavalleri, Gianpiero L / Delanty, Norman / Kälviäinen, Reetta / Jackson, Graeme D / Kowalczyk, Magdalena / Mascalchi, Mario / Semmelroch, Mira / Thomas, Rhys H / Soltanian-Zadeh, Hamid / Davoodi-Bojd, Esmaeil / Zhang, Junsong / Lenge, Matteo / Guerrini, Renzo / Bartolini, Emanuele / Hamandi, Khalid / Foley, Sonya / Rüber, Theodor / Bauer, Tobias / Weber, Bernd / Caldairou, Benoit / Depondt, Chantal / Absil, Julie / Carr, Sarah J A / Abela, Eugenio / Richardson, Mark P / Devinsky, Orrin / Pardoe, Heath / Severino, Mariasavina / Striano, Pasquale / Tortora, Domenico / Kaestner, Erik / Hatton, Sean N / Arienzo, Donatello / Vos, Sjoerd B / Ryten, Mina / Taylor, Peter N / Duncan, John S / Whelan, Christopher D / Galovic, Marian / Winston, Gavin P / Thomopoulos, Sophia I / Thompson, Paul M / Sisodiya, Sanjay M / Labate, Angelo / McDonald, Carrie R / Caciagli, Lorenzo / Bernasconi, Neda / Bernasconi, Andrea / Larivière, Sara / Schrader, Dewi / Bernhardt, Boris C

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is poorly ... ...

    Abstract Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is poorly defined. This ENIGMA-Epilepsy study utilized multimodal magnetic resonance imaging (MRI) data to investigate structural alterations in TLE patients across the adult lifespan. We charted both grey and white matter changes and explored the covariance of age-related alterations in both compartments.
    Methods: We studied 769 TLE patients and 885 healthy controls across an age range of 17-73 years, from multiple international sites. To assess potentially non-linear lifespan changes in TLE, we harmonized data and combined median split assessments with cross-sectional sliding window analyses of grey and white matter age-related changes. Covariance analyses examined the coupling of grey and white matter lifespan curves.
    Results: In TLE, age was associated with a robust grey matter thickness/volume decline across a broad cortico-subcortical territory, extending beyond the mesiotemporal disease epicentre. White matter changes were also widespread across multiple tracts with peak effects in temporo-limbic fibers. While changes spanned the adult time window, changes accelerated in cortical thickness, subcortical volume, and fractional anisotropy (all decreased), and mean diffusivity (increased) after age 55 years. Covariance analyses revealed strong limbic associations between white matter tracts and subcortical structures with cortical regions.
    Conclusions: This study highlights the profound impact of TLE on lifespan changes in grey and white matter structures, with an acceleration of aging-related processes in later decades of life. Our findings motivate future longitudinal studies across the lifespan and emphasize the importance of prompt diagnosis as well as intervention in patients.
    Language English
    Publishing date 2024-03-06
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.02.583073
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Botulinum-A (BoNT-A) in der Stillzeit

    Weber, Gregor Cornelius / Raulin, Christian

    Derm

    2022  Volume 28, Issue 5, Page(s) 564

    Language German
    Document type Article
    ZDB-ID 1315453-9
    ISSN 0949-7633
    Database Current Contents Medicine

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  4. Article ; Online: A biallelic mutation in

    Schwerd, Tobias / Twigg, Stephen R F / Aschenbrenner, Dominik / Manrique, Santiago / Miller, Kerry A / Taylor, Indira B / Capitani, Melania / McGowan, Simon J / Sweeney, Elizabeth / Weber, Astrid / Chen, Liye / Bowness, Paul / Riordan, Andrew / Cant, Andrew / Freeman, Alexandra F / Milner, Joshua D / Holland, Steven M / Frede, Natalie / Müller, Miryam /
    Schmidt-Arras, Dirk / Grimbacher, Bodo / Wall, Steven A / Jones, E Yvonne / Wilkie, Andrew O M / Uhlig, Holm H

    The Journal of experimental medicine

    2017  Volume 214, Issue 9, Page(s) 2547–2562

    Abstract: Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation ... ...

    Abstract Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of
    MeSH term(s) Child, Preschool ; Craniosynostoses/genetics ; Cytokine Receptor gp130/genetics ; Cytokine Receptor gp130/physiology ; Exome/genetics ; Female ; Humans ; Immunologic Deficiency Syndromes/genetics ; Interleukin-11/deficiency ; Interleukin-6/deficiency ; Interleukins/deficiency ; Mutation, Missense/genetics
    Chemical Substances IL11 protein, human ; IL6ST protein, human ; Interleukin-11 ; Interleukin-6 ; Interleukins ; MYDGF protein, human ; Cytokine Receptor gp130 (133483-10-0)
    Language English
    Publishing date 2017-07-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 218343-2
    ISSN 1540-9538 ; 0022-1007
    ISSN (online) 1540-9538
    ISSN 0022-1007
    DOI 10.1084/jem.20161810
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Botulinum-A in der Stillzeit

    Weber, Gregor Cornelius / Raulin, Christian

    Gyn

    2022  Volume 27, Issue 6, Page(s) 561

    Language German
    Document type Article
    ZDB-ID 2017599-1
    ISSN 1432-2870
    Database Current Contents Medicine

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  6. Article: Botulinum-A in der Stillzeit

    Weber, Gregor Cornelius / Raulin, Christian

    Päd

    2022  Volume 28, Issue 6, Page(s) 396

    Language German
    Document type Article
    ZDB-ID 1315461-8
    ISSN 0949-7641
    Database Current Contents Medicine

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  7. Article ; Online: Fungal Host Affects Photosynthesis in a Lichen Holobiont.

    Schulz, Meike / Schmitt, Imke / Weber, Daniel / Dal Grande, Francesco

    Journal of fungi (Basel, Switzerland)

    2022  Volume 8, Issue 12

    Abstract: Corals and lichens are iconic examples of photosynthetic holobionts, i.e., ecological and evolutionary units resulting from the tightly integrated association of algae and prokaryotic microbiota with animal or fungal hosts, respectively. While the role ... ...

    Abstract Corals and lichens are iconic examples of photosynthetic holobionts, i.e., ecological and evolutionary units resulting from the tightly integrated association of algae and prokaryotic microbiota with animal or fungal hosts, respectively. While the role of the coral host in modulating photosynthesis has been clarified to a large extent in coral holobionts, the role of the fungal host in this regard is far less understood. Here, we address this question by taking advantage of the recent discovery of highly specific fungal-algal pairings corresponding to climatically adapted ecotypes of the lichen-forming genus
    Language English
    Publishing date 2022-11-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2784229-0
    ISSN 2309-608X ; 2309-608X
    ISSN (online) 2309-608X
    ISSN 2309-608X
    DOI 10.3390/jof8121267
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book ; Online: Ecosystem natural capital accounts: a quick start package

    Weber, Jean-Louis

    for implementing Aichi Biodiversity Target 2 on Integration of Biodiversity Values in National Accounting Systems in the context of the SEEA Experimental Ecosystem Accounts

    (CBD technical series ; no. 77)

    2014  

    Author's details this document has been prepared in 2014 for the Secretariat of the Convention on Biological Diversity (SCBD) by Jean-Louis Weber (independent consultant)
    Series title CBD technical series ; no. 77
    Collection
    Language English
    Size 1 Online-Ressource (245 Seiten), Illustrationen, Diagramme, Karten
    Publisher Secretariat of the Convention on Biological Diversity
    Publishing place Montréal
    Publishing country Canada
    Document type Book ; Online
    HBZ-ID HT019455876
    ISBN 92-9225-538-X ; 9292255371 ; 978-92-9225-538-1 ; 9789292255374
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  9. Book ; Thesis: Botulinumtoxin Typ-A in der Behandlung funktioneller Störungen im Mund-Kiefer-Gesichtsbereich

    Weber, Anja

    2006  

    Author's details vorgelegt von Anja Weber
    Language German
    Size 119 Bl. : Ill., graph. Darst.
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dresden, Techn. Univ., Diss., 2007
    HBZ-ID HT015311791
    Database Catalogue ZB MED Medicine, Health

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  10. Article ; Online: Clival chordoma: a single-centre outcome analysis.

    Jägersberg, Max / El Rahal, Amir / Dammann, Philipp / Merkler, Doron / Weber, Damien Charles / Schaller, Karl

    Acta neurochirurgica

    2017  Volume 159, Issue 10, Page(s) 1815–1823

    Abstract: Background: The treatment of clival chordomas remains challenging. Total tumour resection is often impossible without hampering adjacent anatomical structures and causing functional sequelae. On the other hand, chordomas show limited response to non- ... ...

    Abstract Background: The treatment of clival chordomas remains challenging. Total tumour resection is often impossible without hampering adjacent anatomical structures and causing functional sequelae. On the other hand, chordomas show limited response to non-surgical treatment modalities. Up to now, no well-established interdisciplinary treatment algorithms for clival chordomas exist. In this regard, we analysed the data from all patients that underwent interdisciplinary treatment for clival chordoma in our institution over the last 10 years.
    Method: Retrospective report of all patients treated at the authors' institution from 2005 to 2015.
    Results: Thirteen patients underwent 24 surgeries, of which 2 (8%) were gross total resections and 22 (92%) incomplete resections. Neurological deterioration, endocrinological disturbances and other surgical complications were observed in six (25%), three (13%) and nine (38%) cases, respectively. Three surgeries (13%) led to an improvement of the initial preoperative neurological condition. All patients were discussed on the interdisciplinary tumour board and all underwent one type of radiotherapy following initial surgery: proton beam in 11 cases (85%) and photon beam in two (15%) cases. In the course of their recurrent disease, three patients (23%) received systemic therapy (imatinib, pazopanib and nivolumab). One patient received a personalised cellular immunotherapy. One patient (8%) was lost to follow-up. Of the remaining 12 patients, four patients (33%) died in the period of analysis; all deaths were chordoma-related. The 5-year cumulative survival rate was 83% (52-97%, CI 95%), 5-year progression-free survival rate was 53% (26-79%, CI 95%). The eight patients (66%) still alive had favourable outcome (KPS, 90 ± 10.7%). SF36 analysis among the survivors revealed 43 points for the Physical Component Summary (12% above, 38% at and 50% below the general population norm) and 47 points for the Mental Component Summary (25% above, 38% at and 38% below).
    Conclusions: Our patients show a low rate of gross total resection but an outcome well comparable to other published results. This emphasises the importance of interdispiplinary treatment strategies, with surgery supplying maximal safe resection and avoiding severe neurological deficit, allowing patients to undergo adjusted radiotherapy and other treatment options in a good condition.
    MeSH term(s) Adult ; Aged ; Antineoplastic Agents/therapeutic use ; Chordoma/drug therapy ; Chordoma/mortality ; Chordoma/pathology ; Chordoma/surgery ; Combined Modality Therapy ; Cranial Fossa, Posterior/pathology ; Cranial Fossa, Posterior/surgery ; Disease-Free Survival ; Female ; Humans ; Male ; Middle Aged ; Neurosurgical Procedures ; Radiosurgery ; Retrospective Studies ; Skull Base Neoplasms/drug therapy ; Skull Base Neoplasms/mortality ; Skull Base Neoplasms/pathology ; Skull Base Neoplasms/surgery ; Survival Rate ; Treatment Outcome
    Chemical Substances Antineoplastic Agents
    Language English
    Publishing date 2017-05-07
    Publishing country Austria
    Document type Journal Article
    ZDB-ID 80010-7
    ISSN 0942-0940 ; 0001-6268
    ISSN (online) 0942-0940
    ISSN 0001-6268
    DOI 10.1007/s00701-017-3163-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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