المؤلفون: Kostel Bal, Sevgi, Giuliani, Sarah, Block, Jana, Repiscak, Peter, Hafemeister, Christoph, Shahin, Tala, Kasap, Nurhan, Ransmayr, Bernhard, Miao, Yirun, van de Wetering, Cheryl, Frohne, Alexandra, Jimenez-Heredia, Raul, Schuster, Michael K, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Shaw, Lisa E, Chowdhury, Iftekhar, Varjosalo, Markku, Argüello, Rafael Jose, Farlik, Matthias, Ozen, Ahmet, Serfling, Edgar Albert Ernst, Dupré, Loïc, Bock, Christoph, Halbritter, Florian, Hannich, J Thomas, Castanon, Irinka, Kraakman, Michael J, Baris, Safa, Boztug, Kaan

المساهمون: Institute of Biotechnology, Molecular Systems Biology

مصطلحات موضوعية: Fatty-acid oxidation, Growth, Homeostasis, Kinase, Memory, Metabolism, Promote, Survival, Transcriptional regulation, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: This study has been supported by the European Research Council Consolidator Grant iDysChart (ERC grant agreement number: 820074) . S.B. has been supported by The Scientific and Technological Research Council of Turkey (318S202) . C.H. and F.H. are supported funding from the Alex's Lemonade Stand Foundation for Childhood Cancer (20-17258) . M.J.K. has been supported by an FWF Lise Meitner Postdoctoral Fellowship (M2013). J.B. has been supported by a Fellowship of the Austrian Academy of Sciences (25590) . C.v.d.W. been supported by a Postdoctoral Fellowship of the PT Engelhorn Foundation. B.R. has been supported by PhD fellowship from the FFG (879254) .r thank Tatjana Hirschmugl for the illustration in the visual abstract. authors thank Wolfgang Weninger for providing the infrastructure required for processing the single-cell RNA-sequencing libraries relevant discussions. This study has been supported by the European Research Council Consolidator Grant iDysChart (ERC grant agreement number: 820074) . S.B. has been supported by The Scientific and Technological Research Council of Turkey (318S202) . C.H. and F.H. are supported funding from the Alex's Lemonade Stand Foundation for Childhood Cancer (20-17258) . M.J.K. has been supported by an FWF Lise Meitner Postdoctoral Fellowship (M2013) . J.B. has been supported by a Fellowship of the Austrian Academy of Sciences (25590) . C.v.d.W. been supported by a Postdoctoral Fellowship of the PT Engelhorn Foundation. B.R. has been supported by PhD fellowship from the (879254) .; Kostel Bal , S , Giuliani , S , Block , J , Repiscak , P , Hafemeister , C , Shahin , T , Kasap , N , Ransmayr , B , Miao , Y , van de Wetering , C , Frohne , A , Jimenez-Heredia , R , Schuster , M K , Zoghi , S , Hertlein , V , Thian , M , Bykov , A , Babayeva , R , Bilgic Eltan , S , Karakoc-Aydiner , E , Shaw , L E , Chowdhury , I , Varjosalo , M , Argüello , R J , Farlik , M , Ozen , A , Serfling , E A E , Dupré , L , Bock , C , Halbritter , F , Hannich , J T , Castanon , I , Kraakman , M J , Baris , S & Boztug , K 2023 , ' Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis ' , Blood , vol. 142 , no. 9 , pp. 827-845 . https://doi.org/10.1182/blood.2022018303Test; RIS: urn:2A0C33DF1B32D34B26603573BCA07D65; ORCID: /0000-0002-1340-9732/work/152346138; http://hdl.handle.net/10138/570661Test; c2bd46d7-67a1-41c0-a526-fbb9a00638eb; 001076973800001

الإتاحة: http://hdl.handle.net/10138/570661Test

المؤلفون: Bal, Sevgi Kostel, Giuliani, Sarah, Block, Jana, Repiscak, Peter, Hafemeister, Christoph, Shahin, Tala, Kasap, Nurhan, Ransmayr, Bernhard, Miao, Yirun, van de Wetering, Cheryl, Frohne, Alexandra, Heredia, Raul Jimenez, Schuster, Michael, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Eltan, Sevgi Bilgic, Karakoc-Aydiner, Elif

المصدر: BLOOD 142(9) 19

العلاقة: https://aperta.ulakbim.gov.tr/record/266102Test; oai:aperta.ulakbim.gov.tr:266102

الإتاحة: https://aperta.ulakbim.gov.tr/record/266102Test

المؤلفون: Shahin, Tala, Kuehn, Hye Sun, Shoeb, Mohamed R., Gawriyski, Lisa, Giuliani, Sarah, Repiscak, Peter, Hoeger, Birgit, Petronczki, Ozlem Yuce, Bal, Sevgi Kostel, Zoghi, Samaneh, Dmytrus, Jasmin, Seruggia, Davide, Castanon, Irinka, Rezaei, Nima, Varjosalo, Markku, Halbritter, Florian, Rosenzweig, Sergio D., Boztug, Kaan

المساهمون: Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Biosciences, Molecular Systems Biology

مصطلحات موضوعية: IL2 GENE-EXPRESSION, IKAROS FAMILY, T-CELLS, R/BIOCONDUCTOR PACKAGE, RNA-SEQ, B-CELLS, DIFFERENTIATION, HEALTH, IMMUNODEFICIENCY, HEMATOPOIESIS, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study has been supported by the European Research Council Consolidator Grant iDysChart (ERC, grant agreement no. 820074) (to K.B.); a doctoral fellowship program [Cell Communication in Health and Disease (CCHD) from the Medical University of Vienna] (to K.B. and T.S.); the Austrian Science Fund FWF project T934-B30 (to B.H.); the Intramural Research Program, NIH Clinical Center, U.S. National Institutes of Health (NIH) (to S.D.R.); and the Academy of Finland (nos. 288475 and 294173), the Sigrid Juselius Foundation, the Finnish Cancer Institute, and Biocenter Finland (to M.V.).; Shahin , T , Kuehn , H S , Shoeb , M R , Gawriyski , L , Giuliani , S , Repiscak , P , Hoeger , B , Petronczki , O Y , Bal , S K , Zoghi , S , Dmytrus , J , Seruggia , D , Castanon , I , Rezaei , N , Varjosalo , M , Halbritter , F , Rosenzweig , S D & Boztug , K 2021 , ' Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity ' , Science immunology , vol. 6 , no. 65 , 3981 . https://doi.org/10.1126/sciimmunol.abe3981Test; ORCID: /0000-0002-1340-9732/work/108463545; ORCID: /0000-0002-1950-4749/work/108466762; dd7c5057-0ec6-41c7-9e7f-53c6ad3fc931; http://hdl.handle.net/10138/352881Test; 000752418400003

الإتاحة: http://hdl.handle.net/10138/352881Test

المؤلفون: Rayzan, Elham, Sadeghalvad, Mona, Shahkarami, Sepideh, Zoghi, Samaneh, Aryan, Zahra, Mahdaviani, Seyed Alireza, Boztug, Kaan, Rezaei, Nima

المصدر: Journal of Medical Case Reports ; volume 17, issue 1 ; ISSN 1752-1947

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1186/s13256-023-04049-yTest

المؤلفون: Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima

المصدر: Allergy, Asthma & Clinical Immunology ; volume 19, issue 1 ; ISSN 1710-1492

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1186/s13223-023-00804-4Test

المؤلفون: Zamani, Raha, Zoghi, Samaneh, Shahkarami, Sepideh, Seyedpour, Simin, Jimenez Heredia, Raúl, Boztug, Kaan, Rezaei, Nima

المصدر: Endocrine, Metabolic & Immune Disorders - Drug Targets ; volume 24, issue 5, page 596-605 ; ISSN 1871-5303

الإتاحة: https://doi.org/10.2174/0118715303263327230922043929Test
https://www.eurekaselect.com/221729/articleTest

المؤلفون: Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

المصدر: Haimel , M , Pazmandi , J , Heredia , R J , Dmytrus , J , Bal , S K , Zoghi , S , van Daele , P , Briggs , T A , Wouters , C , Bader-Meunier , B , Aeschlimann , F A , Caorsi , R , Eleftheriou , D , Hoppenreijs , E , Salzer , E , Bakhtiar , S , Derfalvi , B , Saettini , F , Kusters , M A A , Elfeky , R , Trück , J , Rivière , J G , van der Burg ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/be846a2f-c196-487f-8d93-9494052f3cb3Test

الإتاحة: https://doi.org/10.1016/j.jaci.2021.04.033Test
https://pure.eur.nl/en/publications/be846a2f-c196-487f-8d93-9494052f3cb3Test
https://pure.eur.nl/ws/files/45358912/Curation_and_expansion_of_Human_Phenotype_Ontology_for_defined_groups_of_inborn_errors_of_immunity.pdfTest
http://www.scopus.com/inward/record.url?scp=85119491997&partnerID=8YFLogxKTest

المؤلفون: Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yuce, Hadjadj, Jerome, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Heredia, Raul Jimenez, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Chalumeau, Nathalie Costedoat, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frederic, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan

المساهمون: Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Biosciences, Molecular Systems Biology

مصطلحات موضوعية: T-CELLS, HELIOS, IKAROS, EXPRESSION, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: This study was supported by the European Research Council (ERC) Consolidator Grant iDysChart (ERC grant agreement 820074) (to K.B.); a doctoral fellowship program ("Cell Communication in Health and Disease"; co-financed by the Austrian Science Fund and the Medical University of Vienna) (K.B.); an Austrian Science Fund Hertha Firnberg fellowship (T934-B30) (B.H.); the Intramural Research Program, Clinical Center, US National Institutes of Health (S.D.R.); and the Academy of Finland (288475 and 294173), the Sigrid Juselius Foundation, the Finnish Cancer Institute, and Biocenter Finland (M.V.). F.R.-L. was supported by INSERM and by government grants from the Agence National de la Recherche as part of the Investment for the Future program (ANR10-IAHU-01 and ANR-18-RHUS-0010), the Centre de R~ef~erence D~eficits Immunitaires Hereditaires, the Agence National de la Recherche (ANR-14-CE14-0026-01 and ANR-18-CE17-0001), and the Fondation pour la Recherche Medicale (Equipe FRM EQU202103012670). J.H. was a recipient of an INSERM poste d'accueil program and an Institut Imagine PhD fellowship program supported by the Fondation Bettencourt Schueller.; Shahin , T , Mayr , D , Shoeb , M R , Kuehn , H S , Hoeger , B , Giuliani , S , Gawriyski , L M , Petronczki , Ö Y , Hadjadj , J , Bal , S K , Zoghi , S , Haimel , M , Heredia , R J , Boutboul , D , Triebwasser , M P , Rialland-Battisti , F , Chalumeau , N C , Quartier , P , Tangye , S G , Fleisher , T A , Rezaei , N , Romberg , N , Latour , S , Varjosalo , M , Halbritter , F , Rieux-Laucat , F , Castanon , I , Rosenzweig , S D & Boztug , K 2022 , ' Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation ' , Blood advances , vol. 6 , no. 7 , pp. 2444-2451 . https://doi.org/10.1182/bloodadvances.2021006367Test; ORCID: /0000-0002-1340-9732/work/114300466; ORCID: /0000-0002-1950-4749/work/114303441; http://hdl.handle.net/10138/344353Test; b79c034c-c92a-4463-85b5-d1d24d892358; 000794066000008

الإتاحة: http://hdl.handle.net/10138/344353Test

المؤلفون: Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Diagnostic support, Disease classification, Genetic analysis, HPO, Immunodeficiencies, Inborn errors of immunity, Ontology, Patient matching, Phenotype, Rare diseases

وصف الملف: application/pdf

العلاقة: The Journal of Allergy and Clinical Immunology; Vol. 149 (may 2021), p. 369-378; https://ddd.uab.cat/record/280557Test; urn:10.1016/j.jaci.2021.04.033; urn:oai:ddd.uab.cat:280557; urn:pmcid:PMC9346194; urn:pmc-uid:9346194; urn:pmid:33991581; urn:oai:pubmedcentral.nih.gov:9346194; urn:articleid:10976825v149p369

الإتاحة: https://ddd.uab.cat/record/280557Test

المؤلفون: Khalili, Nastaran, Mohammadzadeh, Iraj, Khalili, Neda, Heredia, Raúl Jimenez, Zoghi, Samaneh, Boztug, Kaan, Rezaei, Nima

المصدر: IDCases ; volume 23, page e01038 ; ISSN 2214-2509

مصطلحات موضوعية: Infectious Diseases

الإتاحة: https://doi.org/10.1016/j.idcr.2020.e01038Test
https://api.elsevier.com/content/article/PII:S2214250920303462?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214250920303462?httpAccept=text/plainTest