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  1. Article ; Online: Human amniotic epithelial stem cells: Hepatic differentiation and regenerative properties in liver disease treatment.

    Riedel, Rodrigo N / Pérez-Pérez, Antonio / Sánchez-Margalet, Víctor / Varone, Cecilia L / Maymó, Julieta L

    Placenta

    2023  Volume 134, Page(s) 39–47

    Abstract: The placenta and the extraembryonic tissues represent a valuable source of cells for regenerative medicine. In particular, the amniotic membrane possesses cells with stem cells characteristics that have attracted research attention. Human amniotic ... ...

    Abstract The placenta and the extraembryonic tissues represent a valuable source of cells for regenerative medicine. In particular, the amniotic membrane possesses cells with stem cells characteristics that have attracted research attention. Human amniotic epithelial cells (hAECs) have unique and desirable features that position them over other stem cells, not only because of the unlimited potential supplied of, the easy access to placental tissues, and the minimal ethical and legal barriers associated, but also due to the embryonic stem cells markers expression and their ability to differentiate into the three germ layers. In addition, they are non-tumorigenic and have immunomodulatory and anti-inflammatory properties. Hepatic failure is one of the major causes of morbidity and mortality worldwide. Organ transplantation is the best way to treat acute and chronic liver failure, but there are several associated obstacles. Stem cells have been highlighted as alternative hepatocytes source because of their potential for hepatogenic differentiation. HAECs, in particular, have some properties that make them suitable for hepatocyte differentiation. In this work, we review the general characteristics of the epithelial stem cells isolated from human amniotic membrane as well as their ability to differentiate to hepatic cells. We also revise their regenerative properties, with the focus on their potential application in the liver disease treatment.
    MeSH term(s) Humans ; Female ; Pregnancy ; Epithelial Cells ; Placenta ; Liver Diseases/therapy ; Cell Differentiation ; Embryonic Stem Cells
    Language English
    Publishing date 2023-02-28
    Publishing country Netherlands
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 603951-0
    ISSN 1532-3102 ; 0143-4004
    ISSN (online) 1532-3102
    ISSN 0143-4004
    DOI 10.1016/j.placenta.2023.02.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Stem cells and COVID-19: are the human amniotic cells a new hope for therapies against the SARS-CoV-2 virus?

    Riedel, Rodrigo N / Pérez-Pérez, Antonio / Sánchez-Margalet, Víctor / Varone, Cecilia L / Maymó, Julieta L

    Stem cell research & therapy

    2021  Volume 12, Issue 1, Page(s) 155

    Abstract: A new coronavirus respiratory disease (COVID-19) caused by the SARS-CoV-2 virus, surprised the entire world, producing social, economic, and health problems. The COVID-19 triggers a lung infection with a multiple proinflammatory cytokine storm in severe ... ...

    Abstract A new coronavirus respiratory disease (COVID-19) caused by the SARS-CoV-2 virus, surprised the entire world, producing social, economic, and health problems. The COVID-19 triggers a lung infection with a multiple proinflammatory cytokine storm in severe patients. Without effective and safe treatments, COVID-19 has killed thousands of people, becoming a pandemic. Stem cells have been suggested as a therapy for lung-related diseases. In particular, mesenchymal stem cells (MSCs) have been successfully tested in some clinical trials in patients with COVID-19. The encouraging results positioned MSCs as a possible cell therapy for COVID-19. The amniotic membrane from the human placenta at term is a valuable stem cell source, including human amniotic epithelial cells (hAECs) and human mesenchymal stromal cells (hAMSCs). Interestingly, amnion cells have immunoregulatory, regenerative, and anti-inflammatory properties. Moreover, hAECs and hAMSCs have been used both in preclinical studies and in clinical trials against respiratory diseases. They have reduced the inflammatory response and restored the pulmonary tissue architecture in lung injury in vivo models. Here, we review the existing data about the stem cells use for COVID-19 treatment, including the ongoing clinical trials. We also consider the non-cellular therapies that are being applied. Finally, we discuss the human amniotic membrane cells use in patients who suffer from immune/inflammatory lung diseases and hypothesize their possible use as a successful treatment against COVID-19.
    MeSH term(s) Amnion/cytology ; COVID-19/therapy ; Clinical Trials as Topic ; Female ; Humans ; Inflammation ; Mesenchymal Stem Cell Transplantation ; Mesenchymal Stem Cells/cytology ; Placenta/cytology ; Pregnancy ; Risk ; Stem Cells/cytology
    Language English
    Publishing date 2021-03-01
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2548671-8
    ISSN 1757-6512 ; 1757-6512
    ISSN (online) 1757-6512
    ISSN 1757-6512
    DOI 10.1186/s13287-021-02216-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Stem cells and COVID-19

    Rodrigo N. Riedel / Antonio Pérez-Pérez / Víctor Sánchez-Margalet / Cecilia L. Varone / Julieta L. Maymó

    Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-

    are the human amniotic cells a new hope for therapies against the SARS-CoV-2 virus?

    2021  Volume 19

    Abstract: Abstract A new coronavirus respiratory disease (COVID-19) caused by the SARS-CoV-2 virus, surprised the entire world, producing social, economic, and health problems. The COVID-19 triggers a lung infection with a multiple proinflammatory cytokine storm ... ...

    Abstract Abstract A new coronavirus respiratory disease (COVID-19) caused by the SARS-CoV-2 virus, surprised the entire world, producing social, economic, and health problems. The COVID-19 triggers a lung infection with a multiple proinflammatory cytokine storm in severe patients. Without effective and safe treatments, COVID-19 has killed thousands of people, becoming a pandemic. Stem cells have been suggested as a therapy for lung-related diseases. In particular, mesenchymal stem cells (MSCs) have been successfully tested in some clinical trials in patients with COVID-19. The encouraging results positioned MSCs as a possible cell therapy for COVID-19. The amniotic membrane from the human placenta at term is a valuable stem cell source, including human amniotic epithelial cells (hAECs) and human mesenchymal stromal cells (hAMSCs). Interestingly, amnion cells have immunoregulatory, regenerative, and anti-inflammatory properties. Moreover, hAECs and hAMSCs have been used both in preclinical studies and in clinical trials against respiratory diseases. They have reduced the inflammatory response and restored the pulmonary tissue architecture in lung injury in vivo models. Here, we review the existing data about the stem cells use for COVID-19 treatment, including the ongoing clinical trials. We also consider the non-cellular therapies that are being applied. Finally, we discuss the human amniotic membrane cells use in patients who suffer from immune/inflammatory lung diseases and hypothesize their possible use as a successful treatment against COVID-19.
    Keywords COVID-19 ; SARS-CoV-2 ; Stem cells ; Stem cell therapy ; Mesenchymal stem cells ; Amnion ; Medicine (General) ; R5-920 ; Biochemistry ; QD415-436
    Subject code 610
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Iodine Intake Based on a Survey from a Cohort of Women at Their Third Trimester of Pregnancy from the Bosque County Chile.

    Opazo, María Cecilia / Fuentes Pena, Camilo / Méndez, Luis / Rojas, Diana / Aguayo, Daniel / Oyanedel, Juan Carlos / Moreno-Reyes, Rodrigo / Wollhk, Nelson / Kalergis, Alexis M / Riedel, Claudia A

    Advances in experimental medicine and biology

    2023  Volume 1408, Page(s) 147–162

    Abstract: Adequate iodine nutrition is fundamental for all humans and is critical during pregnancy and lactation due to iodine forms part of the structure of thyroid hormones (THs) and it is required for THs function. Iodine is a scarce micronutrient that must be ... ...

    Abstract Adequate iodine nutrition is fundamental for all humans and is critical during pregnancy and lactation due to iodine forms part of the structure of thyroid hormones (THs) and it is required for THs function. Iodine is a scarce micronutrient that must be obtained from the diet. Sufficient iodine can be found in the nature from seafood and given it is not frequently consumed by Chileans, public health policies state that table salt in Chile must be iodized. Health plans must be monitored to determine if the intake of iodine is being appropriated and the population has not fallen in deficiency or excess. The aim of this work was to evaluate iodine intake in 26 women at the third trimester of pregnancy. Pregnant women are resident from El Bosque a low-income County located in Santiago de Chile. These Chilean pregnant women were recruited by nutritionist at the Centros de Salud familiar (CESFAM). A 24 h dietary recall (24 h-DR) was applied to them to evaluate iodine intake. Samples of urine and blood were taken by health professionals to analyze parameters of thyroid function and to measure urine iodine concentration (UIC). The survey analysis showed that the iodine consumption in these pregnant women derived mainly from salt, bread and milk and not from seafood. The survey analysis indicated that iodine intake was above the requirements for pregnant women. However, the average UIC indicated that iodine intake was adequate, suggesting the need to find a better parameter to determine iodine intake in pregnant women.
    MeSH term(s) Humans ; Female ; Pregnancy ; Iodine/blood ; Iodine/urine ; Pregnancy Trimester, Third/blood ; Pregnancy Trimester, Third/urine ; Eating ; Chile ; Cohort Studies ; Poverty ; Thyroid Gland/physiology
    Chemical Substances Iodine (9679TC07X4)
    Language English
    Publishing date 2023-04-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 410187-X
    ISSN 0065-2598
    ISSN 0065-2598
    DOI 10.1007/978-3-031-26163-3_8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Community consensus on core open science practices to monitor in biomedicine.

    Cobey, Kelly D / Haustein, Stefanie / Brehaut, Jamie / Dirnagl, Ulrich / Franzen, Delwen L / Hemkens, Lars G / Presseau, Justin / Riedel, Nico / Strech, Daniel / Alperin, Juan Pablo / Costas, Rodrigo / Sena, Emily S / van Leeuwen, Thed / Ardern, Clare L / Bacellar, Isabel O L / Camack, Nancy / Britto Correa, Marcos / Buccione, Roberto / Cenci, Maximiliano Sergio /
    Fergusson, Dean A / Gould van Praag, Cassandra / Hoffman, Michael M / Moraes Bielemann, Renata / Moschini, Ugo / Paschetta, Mauro / Pasquale, Valentina / Rac, Valeria E / Roskams-Edris, Dylan / Schatzl, Hermann M / Stratton, Jo Anne / Moher, David

    PLoS biology

    2023  Volume 21, Issue 1, Page(s) e3001949

    Abstract: The state of open science needs to be monitored to track changes over time and identify areas to create interventions to drive improvements. In order to monitor open science practices, they first need to be well defined and operationalized. To reach ... ...

    Abstract The state of open science needs to be monitored to track changes over time and identify areas to create interventions to drive improvements. In order to monitor open science practices, they first need to be well defined and operationalized. To reach consensus on what open science practices to monitor at biomedical research institutions, we conducted a modified 3-round Delphi study. Participants were research administrators, researchers, specialists in dedicated open science roles, and librarians. In rounds 1 and 2, participants completed an online survey evaluating a set of potential open science practices, and for round 3, we hosted two half-day virtual meetings to discuss and vote on items that had not reached consensus. Ultimately, participants reached consensus on 19 open science practices. This core set of open science practices will form the foundation for institutional dashboards and may also be of value for the development of policy, education, and interventions.
    MeSH term(s) Humans ; Consensus ; Delphi Technique ; Surveys and Questionnaires ; Biomedical Research ; Research Design
    Language English
    Publishing date 2023-01-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2126776-5
    ISSN 1545-7885 ; 1544-9173
    ISSN (online) 1545-7885
    ISSN 1544-9173
    DOI 10.1371/journal.pbio.3001949
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Intravenous Administration of Bone Marrow-Derived Mesenchymal Stem Cells Induces a Switch from Classical to Atypical Symptoms in Experimental Autoimmune Encephalomyelitis

    Mónica Kurte / Javiera Bravo-Alegría / Alexander Torres / Vania Carrasco / Cristina Ibáñez / Ana María Vega-Letter / Catalina Fernández-O’Ryan / Carlos E. Irarrázabal / Fernando E. Figueroa / Rodrigo A. Fuentealba / Claudia Riedel / Flavio Carrión

    Stem Cells International, Vol

    2015  Volume 2015

    Keywords Medicine ; R ; Internal medicine ; RC31-1245
    Publishing date 2015-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Differential expression profile of CXCR3 splicing variants is associated with thyroid neoplasia. Potential role in papillary thyroid carcinoma oncogenesis?

    Urra, Soledad / Fischer, Martin C / Martínez, José R / Véliz, Loreto / Orellana, Paulina / Solar, Antonieta / Bohmwald, Karen / Kalergis, Alexis / Riedel, Claudia / Corvalán, Alejandro H / Roa, Juan C / Fuentealba, Rodrigo / Cáceres, C Joaquin / López-Lastra, Marcelo / León, Augusto / Droppelmann, Nicolás / González, Hernán E

    Oncotarget

    2018  Volume 9, Issue 2, Page(s) 2445–2467

    Abstract: Papillary thyroid cancer (PTC) is the most prevalent endocrine neoplasia. The increased incidence of PTC in patients with thyroiditis and the frequent immune infiltrate found in PTC suggest that inflammation might be a risk factor for PTC development. ... ...

    Abstract Papillary thyroid cancer (PTC) is the most prevalent endocrine neoplasia. The increased incidence of PTC in patients with thyroiditis and the frequent immune infiltrate found in PTC suggest that inflammation might be a risk factor for PTC development. The CXCR3-ligand system is involved in thyroid inflammation and CXCR3 has been found upregulated in many tumors, suggesting its pro-tumorigenic role under the inflammatory microenvironment. CXCR3 ligands (CXCL4, CXCL9, CXCL10 and CXCL11) trigger antagonistic responses partly due to the presence of two splice variants, CXCR3A and CXCR3B. Whereas CXCR3A promotes cell proliferation, CXCR3B induces apoptosis. However, the relation between CXCR3 variant expression with chronic inflammation and PTC development remains unknown. Here, we characterized the expression pattern of CXCR3 variants and their ligands in benign tumors and PTC. We found that CXCR3A and CXCL10 mRNA levels were increased in non-metastatic PTC when compared to non-neoplastic tissue. This increment was also observed in a PTC epithelial cell line (TPC-1). Although elevated protein levels of both isoforms were detected in benign and malignant tumors, the CXCR3A expression remained greater than CXCR3B and promoted proliferation in Nthy-ori-3-1 cells. In non-metastatic PTC, inflammation was conditioning for the CXCR3 ligands increased availability. Consistently, CXCL10 was strongly induced by interferon gamma in normal and tumor thyrocytes. Our results suggest that persistent inflammation upregulates CXCL10 expression favoring tumor development via enhanced CXCR3A-CXCL10 signaling. These findings may help to further understand the contribution of inflammation as a risk factor in PTC development and set the basis for potential therapeutic studies.
    Language English
    Publishing date 2018-01-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2560162-3
    ISSN 1949-2553 ; 1949-2553
    ISSN (online) 1949-2553
    ISSN 1949-2553
    DOI 10.18632/oncotarget.23502
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: The genetic architecture of the human cerebral cortex.

    Grasby, Katrina L / Jahanshad, Neda / Painter, Jodie N / Colodro-Conde, Lucía / Bralten, Janita / Hibar, Derrek P / Lind, Penelope A / Pizzagalli, Fabrizio / Ching, Christopher R K / McMahon, Mary Agnes B / Shatokhina, Natalia / Zsembik, Leo C P / Thomopoulos, Sophia I / Zhu, Alyssa H / Strike, Lachlan T / Agartz, Ingrid / Alhusaini, Saud / Almeida, Marcio A A / Alnæs, Dag /
    Amlien, Inge K / Andersson, Micael / Ard, Tyler / Armstrong, Nicola J / Ashley-Koch, Allison / Atkins, Joshua R / Bernard, Manon / Brouwer, Rachel M / Buimer, Elizabeth E L / Bülow, Robin / Bürger, Christian / Cannon, Dara M / Chakravarty, Mallar / Chen, Qiang / Cheung, Joshua W / Couvy-Duchesne, Baptiste / Dale, Anders M / Dalvie, Shareefa / de Araujo, Tânia K / de Zubicaray, Greig I / de Zwarte, Sonja M C / den Braber, Anouk / Doan, Nhat Trung / Dohm, Katharina / Ehrlich, Stefan / Engelbrecht, Hannah-Ruth / Erk, Susanne / Fan, Chun Chieh / Fedko, Iryna O / Foley, Sonya F / Ford, Judith M / Fukunaga, Masaki / Garrett, Melanie E / Ge, Tian / Giddaluru, Sudheer / Goldman, Aaron L / Green, Melissa J / Groenewold, Nynke A / Grotegerd, Dominik / Gurholt, Tiril P / Gutman, Boris A / Hansell, Narelle K / Harris, Mathew A / Harrison, Marc B / Haswell, Courtney C / Hauser, Michael / Herms, Stefan / Heslenfeld, Dirk J / Ho, New Fei / Hoehn, David / Hoffmann, Per / Holleran, Laurena / Hoogman, Martine / Hottenga, Jouke-Jan / Ikeda, Masashi / Janowitz, Deborah / Jansen, Iris E / Jia, Tianye / Jockwitz, Christiane / Kanai, Ryota / Karama, Sherif / Kasperaviciute, Dalia / Kaufmann, Tobias / Kelly, Sinead / Kikuchi, Masataka / Klein, Marieke / Knapp, Michael / Knodt, Annchen R / Krämer, Bernd / Lam, Max / Lancaster, Thomas M / Lee, Phil H / Lett, Tristram A / Lewis, Lindsay B / Lopes-Cendes, Iscia / Luciano, Michelle / Macciardi, Fabio / Marquand, Andre F / Mathias, Samuel R / Melzer, Tracy R / Milaneschi, Yuri / Mirza-Schreiber, Nazanin / Moreira, Jose C V / Mühleisen, Thomas W / Müller-Myhsok, Bertram / Najt, Pablo / Nakahara, Soichiro / Nho, Kwangsik / Olde Loohuis, Loes M / Orfanos, Dimitri Papadopoulos / Pearson, John F / Pitcher, Toni L / Pütz, Benno / Quidé, Yann / Ragothaman, Anjanibhargavi / Rashid, Faisal M / Reay, William R / Redlich, Ronny / Reinbold, Céline S / Repple, Jonathan / Richard, Geneviève / Riedel, Brandalyn C / Risacher, Shannon L / Rocha, Cristiane S / Mota, Nina Roth / Salminen, Lauren / Saremi, Arvin / Saykin, Andrew J / Schlag, Fenja / Schmaal, Lianne / Schofield, Peter R / Secolin, Rodrigo / Shapland, Chin Yang / Shen, Li / Shin, Jean / Shumskaya, Elena / Sønderby, Ida E / Sprooten, Emma / Tansey, Katherine E / Teumer, Alexander / Thalamuthu, Anbupalam / Tordesillas-Gutiérrez, Diana / Turner, Jessica A / Uhlmann, Anne / Vallerga, Costanza Ludovica / van der Meer, Dennis / van Donkelaar, Marjolein M J / van Eijk, Liza / van Erp, Theo G M / van Haren, Neeltje E M / van Rooij, Daan / van Tol, Marie-José / Veldink, Jan H / Verhoef, Ellen / Walton, Esther / Wang, Mingyuan / Wang, Yunpeng / Wardlaw, Joanna M / Wen, Wei / Westlye, Lars T / Whelan, Christopher D / Witt, Stephanie H / Wittfeld, Katharina / Wolf, Christiane / Wolfers, Thomas / Wu, Jing Qin / Yasuda, Clarissa L / Zaremba, Dario / Zhang, Zuo / Zwiers, Marcel P / Artiges, Eric / Assareh, Amelia A / Ayesa-Arriola, Rosa / Belger, Aysenil / Brandt, Christine L / Brown, Gregory G / Cichon, Sven / Curran, Joanne E / Davies, Gareth E / Degenhardt, Franziska / Dennis, Michelle F / Dietsche, Bruno / Djurovic, Srdjan / Doherty, Colin P / Espiritu, Ryan / Garijo, Daniel / Gil, Yolanda / Gowland, Penny A / Green, Robert C / Häusler, Alexander N / Heindel, Walter / Ho, Beng-Choon / Hoffmann, Wolfgang U / Holsboer, Florian / Homuth, Georg / Hosten, Norbert / Jack, Clifford R / Jang, MiHyun / Jansen, Andreas / Kimbrel, Nathan A / Kolskår, Knut / Koops, Sanne / Krug, Axel / Lim, Kelvin O / Luykx, Jurjen J / Mathalon, Daniel H / Mather, Karen A / Mattay, Venkata S / Matthews, Sarah / Mayoral Van Son, Jaqueline / McEwen, Sarah C / Melle, Ingrid / Morris, Derek W / Mueller, Bryon A / Nauck, Matthias / Nordvik, Jan E / Nöthen, Markus M / O'Leary, Daniel S / Opel, Nils / Martinot, Marie-Laure Paillère / Pike, G Bruce / Preda, Adrian / Quinlan, Erin B / Rasser, Paul E / Ratnakar, Varun / Reppermund, Simone / Steen, Vidar M / Tooney, Paul A / Torres, Fábio R / Veltman, Dick J / Voyvodic, James T / Whelan, Robert / White, Tonya / Yamamori, Hidenaga / Adams, Hieab H H / Bis, Joshua C / Debette, Stephanie / Decarli, Charles / Fornage, Myriam / Gudnason, Vilmundur / Hofer, Edith / Ikram, M Arfan / Launer, Lenore / Longstreth, W T / Lopez, Oscar L / Mazoyer, Bernard / Mosley, Thomas H / Roshchupkin, Gennady V / Satizabal, Claudia L / Schmidt, Reinhold / Seshadri, Sudha / Yang, Qiong / Alvim, Marina K M / Ames, David / Anderson, Tim J / Andreassen, Ole A / Arias-Vasquez, Alejandro / Bastin, Mark E / Baune, Bernhard T / Beckham, Jean C / Blangero, John / Boomsma, Dorret I / Brodaty, Henry / Brunner, Han G / Buckner, Randy L / Buitelaar, Jan K / Bustillo, Juan R / Cahn, Wiepke / Cairns, Murray J / Calhoun, Vince / Carr, Vaughan J / Caseras, Xavier / Caspers, Svenja / Cavalleri, Gianpiero L / Cendes, Fernando / Corvin, Aiden / Crespo-Facorro, Benedicto / Dalrymple-Alford, John C / Dannlowski, Udo / de Geus, Eco J C / Deary, Ian J / Delanty, Norman / Depondt, Chantal / Desrivières, Sylvane / Donohoe, Gary / Espeseth, Thomas / Fernández, Guillén / Fisher, Simon E / Flor, Herta / Forstner, Andreas J / Francks, Clyde / Franke, Barbara / Glahn, David C / Gollub, Randy L / Grabe, Hans J / Gruber, Oliver / Håberg, Asta K / Hariri, Ahmad R / Hartman, Catharina A / Hashimoto, Ryota / Heinz, Andreas / Henskens, Frans A / Hillegers, Manon H J / Hoekstra, Pieter J / Holmes, Avram J / Hong, L Elliot / Hopkins, William D / Hulshoff Pol, Hilleke E / Jernigan, Terry L / Jönsson, Erik G / Kahn, René S / Kennedy, Martin A / Kircher, Tilo T J / Kochunov, Peter / Kwok, John B J / Le Hellard, Stephanie / Loughland, Carmel M / Martin, Nicholas G / Martinot, Jean-Luc / McDonald, Colm / McMahon, Katie L / Meyer-Lindenberg, Andreas / Michie, Patricia T / Morey, Rajendra A / Mowry, Bryan / Nyberg, Lars / Oosterlaan, Jaap / Ophoff, Roel A / Pantelis, Christos / Paus, Tomas / Pausova, Zdenka / Penninx, Brenda W J H / Polderman, Tinca J C / Posthuma, Danielle / Rietschel, Marcella / Roffman, Joshua L / Rowland, Laura M / Sachdev, Perminder S / Sämann, Philipp G / Schall, Ulrich / Schumann, Gunter / Scott, Rodney J / Sim, Kang / Sisodiya, Sanjay M / Smoller, Jordan W / Sommer, Iris E / St Pourcain, Beate / Stein, Dan J / Toga, Arthur W / Trollor, Julian N / Van der Wee, Nic J A / van 't Ent, Dennis / Völzke, Henry / Walter, Henrik / Weber, Bernd / Weinberger, Daniel R / Wright, Margaret J / Zhou, Juan / Stein, Jason L / Thompson, Paul M / Medland, Sarah E

    Science (New York, N.Y.)

    2020  Volume 367, Issue 6484

    Abstract: The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide ... ...

    Abstract The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.
    MeSH term(s) Attention Deficit Disorder with Hyperactivity/genetics ; Brain Mapping ; Cerebral Cortex/anatomy & histology ; Cognition ; Genetic Loci ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Magnetic Resonance Imaging ; Organ Size/genetics ; Parkinson Disease/genetics
    Language English
    Publishing date 2020-03-19
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.aay6690
    Database MEDical Literature Analysis and Retrieval System OnLINE

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