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

Relation: 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.2022018303; RIS: urn:2A0C33DF1B32D34B26603573BCA07D65; ORCID: /0000-0002-1340-9732/work/152346138; http://hdl.handle.net/10138/570661; c2bd46d7-67a1-41c0-a526-fbb9a00638eb; 001076973800001

الاتاحة: http://hdl.handle.net/10138/570661

المؤلفون: Kager, Leo, Jimenez‐Heredia, Raúl, Zeitlhofer, Petra, Novak, Wolfgang, Eder, Sebastian K., Segarra‐Roca, Anna, Frohne, Alexandra, Nebral, Karin, Haimel, Matthias, Geyeregger, René, Roetzer‐Londgin, Katharina, Haas, Oskar A., Boztug, Kaan

المصدر: HemaSphere ; volume 8, issue 1 ; ISSN 2572-9241 2572-9241

الاتاحة: http://dx.doi.org/10.1002/hem3.31
https://onlinelibrary.wiley.com/doi/pdf/10.1002/hem3.31

المؤلفون: Tuna Kırsaçlıoğlu, Ceyda, Frohne, Alexandra, Kuloğlu, Zarife, Kristofersdottir, Isidora, Demir, Engin, Altuntaş, Cansu, Haskoloğlu, Zehra Şule, Çobanoğlu, Fatma Nazan, Kendirli, Tanıl, Özdemir, Halil, Özçakar, Zeynep Birsin, Savaş, Berna, Doğu, Figen, İkincioğulları, Aydan, Boztug, Kaan, Kansu, Aydan

المساهمون: Ankara University

المصدر: Journal of Clinical Immunology ; volume 44, issue 5 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-024-01707-8
https://link.springer.com/content/pdf/10.1007/s10875-024-01707-8.pdf
https://link.springer.com/article/10.1007/s10875-024-01707-8/fulltext.html

المؤلفون: Karakus, Ibrahim Serhat, Catak, Mehmet Cihangir, Frohne, Alexandra, Bayram Catak, Feyza, Yorgun Altunbas, Melek, Babayeva, Royala, Bal, Sevgi Kostel, Eltan, Sevgi Bilgic, Yalcin Gungoren, Ezgi, Esen, Fehim, Zemheri, Itir Ebru, Karakoc-Aydiner, Elif, Ozen, Ahmet, Caki-Kilic, Suar, Kraakman, Michael J., Boztug, Kaan, Baris, Safa

المساهمون: Marmara Üniversitesi, Austrian Science Fund, Marmara University

المصدر: Journal of Clinical Immunology ; volume 44, issue 4 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-024-01682-0
https://link.springer.com/content/pdf/10.1007/s10875-024-01682-0.pdf
https://link.springer.com/article/10.1007/s10875-024-01682-0/fulltext.html

المؤلفون: Novak, Wolfgang, Kroiss, Doris, Karlhuber, Susanne, Frohne, Alexandra, Segarra-Roca, Anna, Simonitsch-Klupp, Ingrid, Boztug, Heidrun, Engstler, Gernot, Kager, Leo, Boztug, Kaan, Dworzak, Michael

المصدر: memo - Magazine of European Medical Oncology; Dec2024, Vol. 17 Issue 4, p297-301, 5p

المؤلفون: Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Cetin, Hakan, Nieratschker, Michael, Liu, David T., Laccone, Franco, Neesen, Juergen, Nemec, Stefan F., Schwarz‑Nemec, Ursula, Schoefer, Christian, Avraham, Karen B., Frei, Klemens, Grabmeier‑Pfistershammer, Katharina, Kratzer, Bernhard, Schmetterer, Klaus, Pickl, Winfried F.

جغرافية الموضوع: UMW:14528, UMW:14491, UMW:14489, UMW:14636, UMW:14632, UMW:14618, UMW:14581

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-64021/128; urn:nbn:at:at-ubmuw:3-64021; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-64021; local:99148000131903331; system:AC17129635

الاتاحة: https://doi.org/10.1007/s00439-022-02506-0
https://repositorium.meduniwien.ac.at/doi/10.1007/s00439-022-02506-0
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-64021

المؤلفون: Boztug, Kaan, Novak, Wolfgang, Berner, Jakob, Svaton, Michael, Jimenez-Heredia, Raul, Segarra-Roca, Anna, Frohne, Alexandra, Guiliani, Sarah, Rouhani, David, Eder, Sebastian K., Rottal, Arno, Trapin, Doris, Scheuchenstuhl, Anja, Pickl, Winfried F., Simonitsch-Klupp, Ingrid, Kager, Leo

مصطلحات موضوعية: autoimmune cytopenias, Evans syndrome, inborn errors of immunity, SASH3 deficiency, whole exome sequencing

جغرافية الموضوع: UMW:18985, UMW:14638, UMW:14574, UMW:20831, UMW:18376, UMW:15934

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-87968/128; urn:nbn:at:at-ubmuw:3-87968; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-87968; local:99147955244203331; system:AC17093994

الاتاحة: https://doi.org/10.1111/bjh.19061
https://repositorium.meduniwien.ac.at/doi/10.1111/bjh.19061
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-87968

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

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

الاتاحة: https://aperta.ulakbim.gov.tr/record/266102

المؤلفون: Berner, Jakob, van de Wetering, Cheryl, Jimenez Heredia, Raul, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes G., Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Brunner, Jürgen, Boztug, Kaan

المساهمون: ERC

المصدر: Journal of Allergy and Clinical Immunology ; volume 152, issue 4, page 1025-1031.e2 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.06.013
https://api.elsevier.com/content/article/PII:S0091674923008096?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674923008096?httpAccept=text/plain

المؤلفون: Novak, Wolfgang, Frohne, Alexandra, Karlhuber, Susanne, Jimenez-Heredia, Raúl, Kager, Leo, Dworzak, Michael, Boztug, Kaan

المصدر: EJC Paediatric Oncology ; volume 2, page 100086 ; ISSN 2772-610X

الاتاحة: http://dx.doi.org/10.1016/j.ejcped.2023.100086
https://api.elsevier.com/content/article/PII:S2772610X23000843?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2772610X23000843?httpAccept=text/plain

المؤلفون: Ransmayr, Bernhard, Bal, Sevgi Köstel, Thian, Marini, Svaton, Michael, van de Wetering, Cheryl, Hafemeister, Christoph, Segarra-Roca, Anna, Block, Jana, Frohne, Alexandra, Krolo, Ana, Altunbas, Melek Yorgun, Bilgic-Eltan, Sevgi, Kıykım, Ayça, Aydiner, Omer, Kesim, Selin, Inanir, Sabahat, Karakoc-Aydiner, Elif, Ozen, Ahmet, Aba, Ümran, Çomak, Aylin

المصدر: Science Immunology; 2024, Vol. 9 Issue 101, p1-17, 17p

مصطلحات موضوعية: B cell differentiation, IMMUNOLOGIC memory, T helper cells, STROMAL cells, CELL morphology

المؤلفون: Fallahi, Mazdak, Jamee, Mahnaz, Enayat, Javad, Abdollahimajd, Fahimeh, Mesdaghi, Mehrnaz, Khoddami, Maliheh, Segarra-Roca, Anna, Frohne, Alexandra, Dmytrus, Jasmin, Keramatipour, Mohammad, Mansouri, Mahboubeh, Eslamian, Golnaz, Fallah, Shahrzad, Boztug, Kaan, Chavoshzadeh, Zahra

المصدر: Allergy, Asthma & Clinical Immunology ; volume 18, issue 1 ; ISSN 1710-1492

الاتاحة: http://dx.doi.org/10.1186/s13223-022-00749-0
https://link.springer.com/content/pdf/10.1186/s13223-022-00749-0.pdf
https://link.springer.com/article/10.1186/s13223-022-00749-0/fulltext.html

المؤلفون: Frohne, Alexandra^1,2 (AUTHOR), Vrabel, Sybille³ (AUTHOR), Laccone, Franco³ (AUTHOR), Neesen, Juergen³ (AUTHOR), Roesch, Sebastian⁴ (AUTHOR), Dossena, Silvia⁵ (AUTHOR), Schoefer, Christian² (AUTHOR), Frei, Klemens^1,6 (AUTHOR), Parzefall, Thomas¹ (AUTHOR) thomas.parzefall@meduniwien.ac.at

المصدر: European Archives of Oto-Rhino-Laryngology. Jul2024, Vol. 281 Issue 7, p3577-3586. 10p.

مصطلحات موضوعية: *HEARING disorders, *GENETIC testing, *GENE therapy, *GENETIC variation, *MEDICAL centers

مصطلحات جغرافية: AUSTRIA

المؤلفون: Boztug, Kaan, Baris, Safa, Erman, BARAN, Castanon, Irinka, Metin, Ayşe, Kraakman, Michael J, Tumanov, Alexei V, Halbritter, Florian, Rizzi, Marta, Simonitsch-Klupp, Ingrid, von Bernuth, Horst, Kubicek, Stefan, Farlik, Matthias, Huber, Bettina, Pazdzior, Robert, Tuğcu, Gökçen Dilşa, Çomak, Aylin, Aba, Ümran, Ozen, Ahmet, Karakoc-Aydiner, Elif, Inanir, Sabahat, Kesim, Selin, Aydiner, Omer, Kıykım, Ayça, Bilgic-Eltan, Sevgi, Altunbas, Melek Yorgun, Krolo, Ana, Frohne, Alexandra, Block, Jana, Segarra-Roca, Anna, Hafemeister, Christoph, van de Wetering, Cheryl, Svaton, Michael, Thian, Marini, Bal, Sevgi Köstel, Ransmayr, Bernhard

الاتاحة: https://doi.org/10.1126/sciimmunol.adq8796
https://avesis.hacettepe.edu.tr/publication/details/fa28da60-9416-47a1-a643-d085f1aa6d12/oai

المؤلفون: Frei, Klemens, Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Lucas, Trevor

جغرافية الموضوع: UMW:14618, UMW:14491, UMW:20945, UMW:14489

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-56487/128; urn:nbn:at:at-ubmuw:3-56487; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-56487; local:99146597417503331; system:AC16483449

الاتاحة: https://doi.org/10.1111/coa.13782
https://repositorium.meduniwien.ac.at/doi/10.1111/coa.13782
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-56487

المؤلفون: Frei, Klemens, Lucas, Trevor, Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan, Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang

مصطلحات موضوعية: TBC1D24, DFNA65, genotype-phenotype association, exome sequencing, autosomal dominant, nonsyndromic, hearing loss

جغرافية الموضوع: UMW:19588, UMW:14636, UMW:17665, UMW:15546

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-90389/128; urn:nbn:at:at-ubmuw:3-90389; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-90389; local:99147955230803331; system:AC17095346

الاتاحة: https://doi.org/10.3389/fncel.2020.585669
https://repositorium.meduniwien.ac.at/doi/10.3389/fncel.2020.585669
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-90389

المؤلفون: Frei, Klemens, Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Lucas, Trevor

مصطلحات موضوعية: Telangiectasia, Hereditary Hemorrhagic, Endoglin, Activin Receptor-Like Kinase-1

جغرافية الموضوع: UMW:14618, UMW:14491, UMW:14489

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-19508/128; urn:nbn:at:at-ubmuw:3-19508; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-19508; local:99145395679603331; system:AC15636223

الاتاحة: https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-19508
https://doi.org/10.21053/ceo.2019.00304
https://repositorium.meduniwien.ac.at/doi/10.21053/ceo.2019.00304

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, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Shaw, Lisa, Chowdhury, Iftekhar, Varjosalo, Markku, Argüello, Rafael, J, Farlik, Matthias, Ozen, Ahmet, Serfling, Edgar, Dupré, Loïc, Bock, Christoph, Halbritter, Florian, Hannich, J. Thomas, Castanon, Irinka, Kraakman, Michael, Baris, Safa, Boztug, Kaan

المساهمون: Cancer Research UK Beatson Institute Glasgow, Stony Brook University SUNY (SBU), State University of New York (SUNY), Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), St. Anna Children’s Cancer Research Institute CCRI Vienna, Istanbul University, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-20-CE14-0028,Epic-ZeNITH,Epic-ZENITH : Un effort intégratif pour identifier les régulateurs du métabolisme et de l'épigénétique dans le cellules myéloïdes associées aux glioblastomes(2020), ANR-22-CE15-0015,MetaNiche,Régulation de l'hématopoïèse par les niches métaboliques de la moelle osseuse(2022)

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]

Relation: hal-04309057; https://amu.hal.science/hal-04309057; https://amu.hal.science/hal-04309057/document; https://amu.hal.science/hal-04309057/file/Kostel%20Ba%202023%20109366_2_merged_1682615370.pdf

الاتاحة: https://amu.hal.science/hal-04309057
https://amu.hal.science/hal-04309057/document
https://amu.hal.science/hal-04309057/file/Kostel%20Ba%202023%20109366_2_merged_1682615370.pdf
https://doi.org/10.1182/blood.2022018303

المؤلفون: Frei, Klemens, Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Lucas, Trevor

مصطلحات موضوعية: Non-syndromic hereditary hearing loss, Autosomal-dominant hearing loss, Whole-exome sequencing, Cochlin, Cochlear implant

جغرافية الموضوع: UMW:14618

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-4746/128; urn:nbn:at:at-ubmuw:3-4746; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-4746; local:99144939104903331; system:AC15357768

الاتاحة: https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-4746
https://doi.org/10.1007/s00508-017-1230-y
https://repositorium.meduniwien.ac.at/doi/10.1007/s00508-017-1230-y

المؤلفون: Novak, Wolfgang, Berner, Jakob, Svaton, Michael, Jimenez‐Heredia, Raul, Segarra‐Roca, Anna, Frohne, Alexandra, Guiliani, Sarah, Rouhani, David, Eder, Sebastian K., Rottal, Arno, Trapin, Doris, Scheuchenstuhl, Anja, Pickl, Winfried F., Simonitsch‐Klupp, Ingrid, Kager, Leo, Boztug, Kaan

المصدر: British Journal of Haematology; Nov2023, Vol. 203 Issue 4, p678-683, 6p

مصطلحات موضوعية: ADAPTOR proteins, REGULATORY T cells, AUTOIMMUNE hemolytic anemia, T-cell exhaustion, IDIOPATHIC thrombocytopenic purpura, GENETIC mutation