المؤلفون: Grönholm, Juha, Kontturi, Antti, Rahiala, Eero, Koski, Tapio

المساهمون: TRIMM - Translational Immunology Research Program, HUS Lasten ja nuorten sairaudet, Lastenklinikka

مصطلحات موضوعية: Circumcision, Male, Methemoglobinemia, +chemically induced, +diagnosis, +drug therapy, +etiology, +therapy, Prilocaine, +adverse effects, Infant, 3123 Naisten- ja lastentaudit

وصف الملف: application/pdf

العلاقة: Grönholm , J , Kontturi , A , Rahiala , E & Koski , T 2023 , ' Ympärileikatun vauvan sinistely : vinkistä vihiä + vastaus ' , Duodecim , Vuosikerta. 139 , Nro 2 , Sivut 161-163 . < https://www.duodecimlehti.fi/xmedia/duo/duo17218.pdfTest >; RIS: urn:D9AC074E95E9748FF801913577D2D2BB; ORCID: /0000-0002-4190-0000/work/133998025; 0ed83003-13a0-47ea-80d7-0fe128d9c881; http://hdl.handle.net/10138/570455Test

الإتاحة: http://hdl.handle.net/10138/570455Test

المؤلفون: Tuovinen, Elina A., Pöysti, Sakari, Hamdan, Firas, Le, Kim My, Keskitalo, Salla, Turunen, Tanja, Minier, Lea, Mamia, Nanni, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Kere, Juha, Seppänen, Mikko R. J., Hänninen, Arno, Grönholm, Juha

المساهمون: TRIMM - Translational Immunology Research Program, HUS Children and Adolescents, Children's Hospital, Division of Pharmaceutical Biosciences, Drug Research Program, Faculty of Pharmacy, Digital Precision Cancer Medicine (iCAN), Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Joint Activities, Molecular Systems Biology, University of Helsinki, Biosciences, ImmunoViroTherapy Lab, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Medicum, Clinicum

مصطلحات موضوعية: X-linked combined immunodeficiency, Severe combined immunodeficiency, atypical, Interleukin receptor common subunit gamma, IL2RG, Gamma-delta T-cell receptor, COMBINED IMMUNE-DEFICIENCY, MISSENSE MUTATION, CHAIN, LYMPHOCYTES, ACTIVATION, ANTIGEN, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: Open Access funding provided by University of Helsinki including Helsinki University Central Hospital. Funding was received by Emil Aaltonen Foundation (ET, SP, and JG), Biomedicum Foundation (ET), The Finnish Medical Foundation (ET and JG), University of Helsinki Research Foundation (FH), Sigrid Juselius Foundation (JK and JG) and Jane and Aatos Erkko Foundation (VC and JK), Academy of Finland (MV, VC and JG), Pediatric Research Center (JG and MS), Finnish Pediatric Research Foundation (MS), Novo Nordisk Foundation (AH), European Research Council (VC), Cancer Finnish foundation (VC), Magnus Ehrnrooth Foundation (VC), and from HiLIFE (VC).; Tuovinen , E A , Pöysti , S , Hamdan , F , Le , K M , Keskitalo , S , Turunen , T , Minier , L , Mamia , N , Heiskanen , K , Varjosalo , M , Cerullo , V , Kere , J , Seppänen , M R J , Hänninen , A & Grönholm , J 2023 , ' Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling ' , Journal of Clinical Immunology , vol. 43 , no. 2 , pp. 358–370 . https://doi.org/10.1007/s10875-022-01375-6Test; ORCID: /0000-0002-1340-9732/work/128512887; ORCID: /0000-0001-5555-1975/work/128516612; ORCID: /0000-0001-9733-3650/work/128516726; ORCID: /0000-0002-4190-0000/work/128517370; ORCID: /0000-0001-8960-7164/work/128518476; fc32c30f-f444-43ac-9e01-287dd1643ebd; http://hdl.handle.net/10138/354198Test; 000870089600001

الإتاحة: http://hdl.handle.net/10138/354198Test

المؤلفون: Tuovinen, Elina A., Pöysti, Sakari, Hamdan, Firas, Le, Kim My, Keskitalo, Salla, Turunen, Tanja, Minier, Léa, Mamia, Nanni, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Kere, Juha, Seppänen, Mikko R. J., Hänninen, Arno, Grönholm, Juha

المساهمون: Academy of Finland, Emil Aaltosen Säätiö, Biomedicum Helsinki-säätiö, Suomen Lääketieteen Säätiö, Helsingin Yliopiston Tiedesäätiö, Sigrid Juséliuksen Säätiö, Jane ja Aatos Erkon Säätiö, Lastentautien Tutkimussäätiö, Novo Nordisk Fonden, H2020 European Research Council, Helsingin ja Uudenmaan Sairaanhoitopiiri, Magnus Ehrnroothin Säätiö, University of Helsinki including Helsinki University Central Hospital

المصدر: Journal of Clinical Immunology ; volume 43, issue 2, page 358-370 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-022-01375-6Test

المؤلفون: Tuovinen, Elina A., Grönholm, Juha, Öhman, Tiina, Pöysti, Sakari, Toivonen, Raine, Kreutzman, Anna, Heiskanen, Kaarina, Trotta, Luca, Toiviainen-Salo, Sanna, Routes, John M., Verbsky, James, Mustjoki, Satu, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Hänninen, Arno, Seppänen, Mikko R. J.

المساهمون: TRIMM - Translational Immunology Research Program, University of Helsinki, Children's Hospital, HUS Children and Adolescents, Research Programs Unit, Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Division of Pharmaceutical Biosciences, HUSLAB, Hematologian yksikkö, HUS Comprehensive Cancer Center, Department of Oncology, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, Department of Clinical Chemistry and Hematology, Janna Saarela / Principal Investigator, Department of Medical and Clinical Genetics, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Molecular Systems Biology, Clinicum

مصطلحات موضوعية: X-linked combined immunodeficiency diseases, severe combined immunodeficiency, atypical, interleukin receptor common gamma subunit, IL2RG, endoplasmic reticulum, Golgi apparatus, COMBINED IMMUNE-DEFICIENCY, GAMMA-CHAIN, CELL DIFFERENTIATION, INTERLEUKIN-2 IL-2, T-LYMPHOCYTES, NK-CELLS, REVERSION, BIOLOGY, DISEASE, PROLIFERATION, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: Open access funding provided by University of Helsinki including Helsinki University Central Hospital. Funding was received by Pediatric Academic Track funding (J.G.) and hospital research funds (E.T., M.S.) from Pediatric Research Center, HUS Helsinki University Hospital and by grants from Emil Aaltonen Foundation (J. G.), Academy of Finland (J.G., M.V., T. O., S.M.), Finnish Pediatric Research Foundation (E.T., J.G., M.S.), Sigrid Juselius Foundation (J.K., M.V., T.O.), Novo Nordisk Foundation (A. H.), Finnish Cancer Institute (M.V., T.O.), Magnus Ehrnrooth Foundation (M. V., T.O.), and The Children's Research Institute, Milwaukee WI, USA (J.V.).; Tuovinen , E A , Grönholm , J , Öhman , T , Pöysti , S , Toivonen , R , Kreutzman , A , Heiskanen , K , Trotta , L , Toiviainen-Salo , S , Routes , J M , Verbsky , J , Mustjoki , S , Saarela , J , Kere , J , Varjosalo , M , Hänninen , A & Seppänen , M R J 2020 , ' Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency ' , Journal of Clinical Immunology , vol. 40 , no. 3 , pp. 503-514 . https://doi.org/10.1007/s10875-020-00745-2Test; ORCID: /0000-0001-6647-8873/work/76723575; ORCID: /0000-0002-0853-6219/work/76724125; ORCID: /0000-0002-1340-9732/work/76725251; ORCID: /0000-0001-9733-3650/work/76727024; ORCID: /0000-0002-4190-0000/work/76727481; ORCID: /0000-0002-0816-8241/work/76727551; 61d95a85-9ece-4add-ad78-d3684fbafca5; http://hdl.handle.net/10138/317341Test; 000516296100001

الإتاحة: http://hdl.handle.net/10138/317341Test

المؤلفون: Ni, Qingshan, Zhang, Jianyang, Zheng, Zihan, Chen, Gang, Christian, Laura, Grönholm, Juha, Yu, Haili, Zhou, Daxue, Zhuang, Yuan, Li, Qi-Jing, Wan, Ying

المصدر: Frontiers in Genetics ; volume 11 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2020.00771Test

المؤلفون: Grönholm, Juha, Tuovinen, Elina, Pöysti, Sakari, Hamdan, Firas, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Juha, Kere, Seppänen, Mikko, Hänninen, Arno

المصدر: Clinical Immunology ; volume 250, page 109507 ; ISSN 1521-6616

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1016/j.clim.2023.109507Test
https://api.elsevier.com/content/article/PII:S1521661623003157?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1521661623003157?httpAccept=text/plainTest

المؤلفون: Grönholm, Juha, Pagni, Philippe P., Pham, Minh N., Gibson, Claire B., Macomber, Paul F., Vela, José Luis, von Herrath, Matthias, Lenardo, Michael J.

المساهمون: Sigrid Juséliuksen Säätiö, Wellstat Immunotherapeutics Corp, Wellstat Diagnostics, LLC, Novo Nordisk, National Institute of Allergy and Infectious Diseases, Emil Aaltosen Säätiö

المصدر: Diabetologia ; volume 60, issue 8, page 1475-1482 ; ISSN 0012-186X 1432-0428

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1007/s00125-017-4276-5Test

المؤلفون: Afzali, Ben, Grönholm, Juha, Vandrocova, Jana, O'Brien, Charlotte, Sun, Hong-Wei, Vanderleyden, Ine, Davis, Fred P, Khoder, Ahmad, Zhang, Yu, Hegazy, Ahmed N, Villarino, Alejandro V, Palmer, Ira W, Kaufman, Joshua, Watts, Norman R, Kazemian, Majid, Kamenyeva, Olena, Keith, Julia, Sayed, Anwar, Kasperaviciute, Dalia, Mueller, Michael, Hughes, Jason D, Fuss, Ivan J, Sadiyah, Mohammed F, Montgomery-Recht, Kim, McElwee, Joshua, Restifo, Nicholas P, Strober, Warren, Linterman, Michelle A, Wingfield, Paul T, Uhlig, Holm H, Roychoudhuri, Rahul, Aitman, Timothy J, Kelleher, Peter, Lenardo, Michael J, O'Shea, John J, Cooper, Nichola, Laurence, Arian D J

المصدر: Afzali , B , Grönholm , J , Vandrocova , J , O'Brien , C , Sun , H-W , Vanderleyden , I , Davis , F P , Khoder , A , Zhang , Y , Hegazy , A N , Villarino , A V , Palmer , I W , Kaufman , J , Watts , N R , Kazemian , M , Kamenyeva , O , Keith , J , Sayed , A , Kasperaviciute , D , Mueller , M , Hughes , J D , Fuss , I J , Sadiyah , M F ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/ni.3753Test
https://kclpure.kcl.ac.uk/portal/en/publications/33159250-23ea-4dd4-bee8-b4d8737923c4Test
https://kclpure.kcl.ac.uk/ws/files/146856912/BACH2_immunodeficiency_illustrates_AFZALI_Publishedonline22May2017_GREEN_AAM.pdfTest
https://qmro.qmul.ac.uk/xmlui/handle/123456789/32047?show=fullTest
https://ora.ox.ac.uk/objects/uuid:a4466ebb-6bde-468f-a25e-41b578db9f18Test

المؤلفون: Grönholm, Juha, Seppänen, Mikko

المساهمون: TRIMM - Translational Immunology Research Program, Tutkimusohjelmayksikkö, HUS Lasten ja nuorten sairaudet, Lastenklinikka, Helsingin yliopisto, Clinicum, Sisätautien osasto

مصطلحات موضوعية: 3111 Biolääketieteet, +immunology, Inflammasomes, +diagnosis, Immunologic Deficiency Syndromes, +genetics, NF-kappa B p50 Subunit, Gene Expression, NLR Proteins, Autoimmune Diseases, 3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet, Basic-Leucine Zipper Transcription Factors, CCAAT-Enhancer-Binding Proteins, Lymphocytes, +etiology, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1593::ef1cc37c15712745657cb5096f2a501dTest
http://hdl.handle.net/10138/338099Test

المؤلفون: Grönholm, Juha, Vanhatupa, Sari, Ungureanu, Daniela, Väliaho, Jouni, Laitinen, Tuomo, Valjakka, Jarkko, Silvennoinen, Olli

المساهمون: Biolääketieteellisen teknologian yksikkö - Institute of Biomedical Technology, University of Tampere

مصطلحات موضوعية: Lääketieteen bioteknologia - Medical biotechnology

وصف الملف: fulltext

العلاقة: 20; BMC Biochemistry; 13; https://trepo.tuni.fi/handle/10024/67946Test; URN:NBN:fi:uta-201301041002

الإتاحة: https://trepo.tuni.fi/handle/10024/67946Test