المؤلفون: Mychaleckyj, Josyf C., Valo, Erkka, Ichimura, Takaharu, Ahluwalia, Tarunveer S., Dina, Christian, Miller, Rachel G., Shabalin, Ivan G., Gyorgy, Beata, Cao, JingJing, Onengut-Gumuscu, Suna, Satake, Eiichiro, Smiles, Adam M., Haukka, Jani K., Tregouet, David-Alexandre, Costacou, Tina, O'Neil, Kristina, Paterson, Andrew D., Forsblom, Carol, Keenan, Hillary A., Pezzolesi, Marcus G., Pragnell, Marlon, Galecki, Andrzej, Rich, Stephen S., Sandholm, Niina, Klein, Ronald, Klein, Barbara E., Susztak, Katalin, Orchard, Trevor J., Korstanje, Ron, King, George L., Hadjadj, Samy, Rossing, Peter, Bonventre, Joseph V., Groop, Per-Henrik, Warram, James H., Krolewski, Andrzej S.

المساهمون: CAMM - Research Program for Clinical and Molecular Metabolism, HUS Abdominal Center, Nefrologian yksikkö, Research Programs Unit, Clinicum, Medicum, Department of Medicine, Per Henrik Groop / Principal Investigator

مصطلحات موضوعية: type 1 diabetes, hydroxysteroid 17-beta dehydrogenase 14, end stage kidney disease, gene-based tests, rare variants, diabetic nephropathy, diabetic kidney disease, GENOME-WIDE ASSOCIATION, RENAL DECLINE, NEPHROPATHY, COMPLICATIONS, RISK, MICROALBUMINURIA, PREDICTORS, GENETICS, DURATION, GENES, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Mychaleckyj , J C , Valo , E , Ichimura , T , Ahluwalia , T S , Dina , C , Miller , R G , Shabalin , I G , Gyorgy , B , Cao , J , Onengut-Gumuscu , S , Satake , E , Smiles , A M , Haukka , J K , Tregouet , D-A , Costacou , T , O'Neil , K , Paterson , A D , Forsblom , C , Keenan , H A , Pezzolesi , M G , Pragnell , M , Galecki , A , Rich , S S , Sandholm , N , Klein , R , Klein , B E , Susztak , K , Orchard , T J , Korstanje , R , King , G L , Hadjadj , S , Rossing , P , Bonventre , J V , Groop , P-H , Warram , J H & Krolewski , A S 2021 , ' Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes ' , Journal of the American Society of Nephrology , vol. 32 , no. 10 , pp. 2634-2651 . https://doi.org/10.1681/ASN.2020101457Test; ORCID: /0000-0003-4322-6942/work/104579661; ORCID: /0000-0003-0672-554X/work/104579913; ddefafdd-ec8f-46d7-a02b-843a1a963f96; http://hdl.handle.net/10138/353497Test; 000714146900027

الإتاحة: http://hdl.handle.net/10138/353497Test

المؤلفون: Antikainen, Anni A.^1,2,3 (AUTHOR), Haukka, Jani K.^1,2,3 (AUTHOR), Kumar, Anmol^1,2,3 (AUTHOR), Syreeni, Anna^1,2,3 (AUTHOR), Hägg-Holmberg, Stefanie^1,2,3 (AUTHOR), Ylinen, Anni^1,2,3 (AUTHOR), Kilpeläinen, Elina⁴ (AUTHOR), Kytölä, Anastasia⁴ (AUTHOR), Palotie, Aarno^4,5,6 (AUTHOR), Putaala, Jukka⁷ (AUTHOR), Thorn, Lena M.^1,2,3,8 (AUTHOR), Harjutsalo, Valma^1,2,3 (AUTHOR), Groop, Per-Henrik^1,2,3,9 (AUTHOR) per-henrik.groop@helsinki.fi, Sandholm, Niina^1,2,3 (AUTHOR) niina.sandholm@helsinki.fi

المصدر: Scientific Reports. 6/11/2024, Vol. 14 Issue 1, p1-16. 16p.

مصطلحات موضوعية: *WHOLE genome sequencing, *TYPE 1 diabetes, *REGULATOR genes, *STROKE, *EXOMES, *HEMORRHAGIC stroke

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Manca, Maria Laura, Solini, Anna, Haukka, Jani K., Sandholm, Niina, Forsblom, Carol, Groop, Per Henrik, Ferrannini, Ele

المساهمون: HUS Abdominal Center, Faculty of Medicine, University of Helsinki, Nefrologian yksikkö, CAMM - Research Program for Clinical and Molecular Metabolism, Research Programs Unit, Clinicum, Medicum, Institute for Molecular Medicine Finland, Diabetes and Obesity Research Program, Department of Medicine, Per Henrik Groop / Principal Investigator

مصطلحات موضوعية: 3121 General medicine, internal medicine and other clinical medicine, GFR, metabolomics, nephropathy, Type 1 diabetes, Type 2 diabetes, METABOLITES, MAST-CELLS, RISK, SERUM URIC-ACID, INDIVIDUALS, PLASMA, DYSFUNCTION, CHRONIC KIDNEY-DISEASE, ASSOCIATION

وصف الملف: application/pdf

العلاقة: Manca , M L , Solini , A , Haukka , J K , Sandholm , N , Forsblom , C , Groop , P H & Ferrannini , E 2021 , ' Differential metabolomic signatures of declining renal function in Types 1 and 2 diabetes ' , Nephrology Dialysis Transplantation , vol. 36 , no. 10 , pp. 1859-1866 . https://doi.org/10.1093/ndt/gfaa175Test; ORCID: /0000-0003-4322-6942/work/102236497; 85117404572; 7a93c3b5-14e9-4baa-bd63-81609b32209d; http://hdl.handle.net/10138/340442Test; 000704005900013

الإتاحة: http://hdl.handle.net/10138/340442Test

المؤلفون: Sandholm, Niina, Hotakainen, Ronja, Haukka, Jani K., Jansson Sigfrids, Fanny, Dahlström, Emma H., Antikainen, Anni A., Valo, Erkka, Syreeni, Anna, Kilpeläinen, Elina, Kytölä, Anastasia, Palotie, Aarno, Harjutsalo, Valma, Forsblom, Carol, Groop, Per-Henrik

المساهمون: Folkhälsan Research Foundation, Helsinki University Central Hospital Research Funds, Wilhelm och Else Stockmanns Stiftelse, Medicinska Understödsföreningen Liv och Hälsa, Novo Nordisk Fonden, Sigrid Juséliuksen Säätiö, Academy of Finland, European Foundation for the Study of Diabetes

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

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

الإتاحة: https://doi.org/10.1186/s13073-022-01135-6Test

المؤلفون: Jain, Ruchi, Özgümüş, Türküler, Jensen, Troels Mygind, du Plessis, Elsa, Keindl, Magdalena, Møller, Cathrine Laustrup, Falhammar, Henrik, Nyström, Thomas, Catrina, Sergiu-Bogdan, Jörneskog, Gun, Jessen, Leon Eyrich, Forsblom, Carol, Haukka, Jani K., Groop, Per-Henrik, Rossing, Peter, Groop, Leif, Eliasson, Mats, Eliasson, Björn, Brismar, Kerstin, Al-Majdoub, Mahmoud, Nilsson, Peter M., Taskinen, Marja-Riitta, Ferrannini, Ele, Spégel, Peter, Berg, Tore Julsrud, Lyssenko, Valeriya

المصدر: Scientific Reports. 10(1)

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-173919Test
https://doi.org/10.1038/s41598-020-68130-yTest
https://umu.diva-portal.org/smash/get/diva2:1456686/FULLTEXT01.pdfTest

المؤلفون: MYCHALECKYJ, Josyf C., VALO, Erkka, ICHIMURA, Takaharu, AHLUWALIA, Tarunveer S., DINA, Christian, MILLER, Rachel G., SHABALIN, Ivan G., GYORGY, Beata, CAO, Jingjing, ONENGUT-GUMUSCU, Suna, SATAKE, Eiichiro, SMILES, Adam M., HAUKKA, Jani K., TREGOUET, David-Alexandre, COSTACOU, Tina, O'NEIL, Kristina, PATERSON, Andrew D., FORSBLOM, Carol, KEENAN, Hillary A., PEZZOLESI, Marcus G., PRAGNELL, Marlon, GALECKI, Andrzej, RICH, Stephen S., SANDHOLM, Niina, KLEIN, Ronald, KLEIN, Barbara E., SUSZTAK, Katalin, ORCHARD, Trevor J., KORSTANJE, Ron, KING, George L., HADJADJ, Samy, ROSSING, Peter, BONVENTRE, Joseph V., GROOP, Per-Henrik, WARRAM, James H., KROLEWSKI, Andrzej S.

مصطلحات موضوعية: Type 1 diabetes, Hydroxysteroid 17-beta dehydrogenase 14, End stage kidney disease, Gene-based tests, Rare variants, Diabetic nephropathy, Diabetic kidney disease, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

العلاقة: 1533-3450 (Electronic) 1046-6673 (Linking); https://oskar-bordeaux.fr/handle/20.500.12278/123983Test

الإتاحة: https://doi.org/20.500.12278/123983Test
https://doi.org/10.1681/ASN.2020101457Test
https://oskar-bordeaux.fr/handle/20.500.12278/123983Test
https://hdl.handle.net/20.500.12278/123983Test

المؤلفون: SUMMIT Consortium, DCCT EDIC Res Grp, GENIE Consortium, Salem, Rany M., Todd, Jennifer N., Sandholm, Niina, Valo, Erkka, Haukka, Jani K., Harjutsalo, Valma, Groop, Leif C., Forsblom, Carol, Groop, Per-Henrik, Florez, Jose C., Panduru, Nicolae Mircea

المساهمون: Medicum, HUS Abdominal Center, Research Programs Unit, Nefrologian yksikkö, University of Helsinki, CAMM - Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, Institute for Molecular Medicine Finland, Clinicum, Centre of Excellence in Complex Disease Genetics, University Management, Department of Medicine, Per Henrik Groop / Principal Investigator

مصطلحات موضوعية: RECEPTOR TYROSINE KINASES, COLLECTIN 11 CL-11, NITRIC-OXIDE, NEPHROPATHY, EXPRESSION, GENE, MUTATIONS, PROTEIN, SUSCEPTIBILITY, COMPLICATIONS, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study was supported by a grant from the JDRF (17-2013-7) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) grants R01 DK081923 and R01 DK105154. Salem was supported in part by JDRF grant 3-APF-2014-111-A-N, and National Heart, Lung and Blood Institute grant R00 HL122515. Todd was supported by NIDDK grant K12-DK094721. Sandholm received funds from the European Foundation for the Study of Diabetes (EFSD) Young Investigator Research Award funds and Academy of Finland (299200). Godson, Andrews, Brennan, Martin, Hughes, and Doyle are supported by Science Foundation Ireland - Health Research Board (SFI-HRB) US Ireland Research Partnership SFI15/US/B3130. Nelson was supported in part by the Intramural Research Program of the NIDDK. The FinnDiane study was funded by JDRF (17-2013-7), Folkhalsan Research Foundation, the Wilhelm and Else Stockmann Foundation, the Liv och Halsa Foundation, Helsinki University Central Hospital Research Funds (EVO), the Novo Nordisk Foundation (NNF OC0013659), and Academy of Finland (275614 and 316664). The Pittsburgh Epidemiology of Diabetes Complications Study (EDC) study was supported by NIDDK grant DK34818 and by the Rossi Memorial Fund. The Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) study was funded by National Eye Institute grant EY016379. The Sweden study was supported by Family Erling-Persson (Brismar) and Stig and Gunborg Westman foundations (Gu). SUMMIT Consortium: this work was supported by Innovative Medicines Initiative (IMI) (SUMMIT 115006); Wellcome Trust grants 098381, 090532, and 106310; National Institutes of Health grant R01-MH101814; and JDRF grant 2-SRA-2014-276-Q-R; and other grants from Swedish Research Council, European Research Council Advanced (ERC-Adv) research grant 269045-GENE TARGET T2D, Academy of Finland grants 263401 and 267882, and Sigrid JUselius Foundation. The George M. O'Brien Michigan Kidney Translational Core Center, funded by NIH/NIDDK grant 2P30-DK-081943 for the bioinformatics support. The Wellcome Trust United Kingdom Type 2 Diabetes Case Control Collection (GoDARTS) was funded by the Wellcome Trust (072960/Z/03/Z, 084726/Z/08/Z, 084727/Z/08/Z, 085475/Z/08/Z, 085475/B/08/Z) and as part of the European Union's IMI-SUMMIT program.; SUMMIT Consortium , DCCT EDIC Res Grp , GENIE Consortium , Salem , R M , Todd , J N , Sandholm , N , Valo , E , Haukka , J K , Harjutsalo , V , Groop , L C , Forsblom , C , Groop , P-H , Florez , J C & Panduru , N M 2019 , ' Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen ' , Journal of the American Society of Nephrology , vol. 30 , no. 10 , pp. 2000-2016 . https://doi.org/10.1681/ASN.2019030218Test; ORCID: /0000-0003-4322-6942/work/65309194; ORCID: /0000-0003-0672-554X/work/66367078; bb1d5de6-79fc-4a87-9c20-096803b8aeeb; http://hdl.handle.net/10138/307422Test; 000493453400022

الإتاحة: http://hdl.handle.net/10138/307422Test

المؤلفون: Salem, Rany M., Todd, Jennifer N., Sandholm, Niina, Cole, Joanne B., Chen, Wei-Min, Andrews, Darrell, Pezzolesi, Marcus G., McKeigue, Paul M., Hiraki, Linda T., Qiu, Chengxiang, Nair, Viji, Di Liao, Chen, Cao, Jing Jing, Valo, Erkka, Onengut-Gumuscu, Suna, Smiles, Adam M., McGurnaghan, Stuart J., Haukka, Jani K., Harjutsalo, Valma, Brennan, Eoin P., van Zuydam, Natalie, Ahlqvist, Emma, Doyle, Ross, Ahluwalia, Tarunveer S, Lajer, Maria, Hughes, Maria F., Park, Jihwan, Skupien, Jan, Spiliopoulou, Athina, Liu, Andrew, Menon, Rajasree, Boustany-Kari, Carine M., Kang, Hyun M., Nelson, Robert G., Klein, Ronald, Klein, Barbara E., Lee, Kristine E., Gao, Xiaoyu, Mauer, Michael, Maestroni, Silvia, Caramori, Maria Luiza, de Boer, Ian H., Miller, Rachel G., Guo, Jingchuan, Boright, Andrew P., Tregouet, David, Gyorgy, Beata, Palmer, Colin N. A., Colhoun, Helen M., Paterson, Andrew D., Florez, Jose C.

المصدر: SUMMIT Consortium , GENIE Consortium , Salem , R M , Todd , J N , Sandholm , N , Cole , J B , Chen , W-M , Andrews , D , Pezzolesi , M G , McKeigue , P M , Hiraki , L T , Qiu , C , Nair , V , Di Liao , C , Cao , J J , Valo , E , Onengut-Gumuscu , S , Smiles , A M , McGurnaghan , S J , Haukka , J K , Harjutsalo , V , Brennan , E P , van ....

مصطلحات موضوعية: diabetes, diabetic nephropathy, end-stage renal disease, genetic renal disease, human genetics, kidney disease, /dk/atira/pure/subjectarea/asjc/2700/2727, name=Nephrology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/47bda5b2-f210-4bcb-b25d-753da378800bTest

الإتاحة: https://doi.org/10.1681/ASN.2019030218Test
https://discovery.dundee.ac.uk/en/publications/47bda5b2-f210-4bcb-b25d-753da378800bTest
https://discovery.dundee.ac.uk/ws/files/39239264/Genome_Wide_Association_Study_of_Diabetic_Kidney_Disease_JASN_2019.pdfTest
http://www.scopus.com/inward/record.url?scp=85072790774&partnerID=8YFLogxKTest

المؤلفون: Sandholm, Niina, Haukka, Jani K., Toppila, Iiro, Valo, Erkka, Harjutsalo, Valma, Forsblom, Carol, Groop, Per-Henrik

المساهمون: Doctoral Programme in Clinical Research, Clinicum, Nefrologian yksikkö, Department of Medicine, University of Helsinki, Diabetes and Obesity Research Program, Research Programs Unit, HUS Abdominal Center, HUS Internal Medicine and Rehabilitation, Per Henrik Groop / Principal Investigator

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, GENETIC-VARIATION, EXCRETION RATE, METAANALYSIS, KIDNEY, CONSEQUENCES, HERITABILITY, EFFICIENT, MELLITUS, GLYCINE, General medicine, internal medicine and other clinical medicine, Biomedicine

وصف الملف: application/pdf

العلاقة: The skilled technical assistance of Maikki Parkkonen, Mira Korolainen, Hanna Olanne, Anna-Reetta Salonen, Anna Sandelin, and Jaana Tuomikangas is gratefully acknowledged. The authors also acknowledge all the physicians and nurses at each center participating in the collection of patients (see Supplementary Table S3). This study was funded by the Folkhalsan Research Foundation, the Wilhelm and Else Stockmann Foundation, the Liv och Halsa Society, the Novo Nordisk Foundation, the Helsinki University Hospital Research Funds (EVO), Paivikki and Sakari Sohlberg Foundation, European Foundation for the Study of Diabetes (EFSD) Young Investigator Research Award funds, and the Academy of Finland (275614 and 299200). Genotyping of the GWAS data was funded by the Juvenile Diabetes Research Foundation (JDRF) within the Diabetic Nephropathy Collaborative Research Initiative (DNCRI), with GWAS quality control and imputation performed at University of Virginia.; Sandholm , N , Haukka , J K , Toppila , I , Valo , E , Harjutsalo , V , Forsblom , C & Groop , P-H 2018 , ' Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes ' , Scientific Reports , vol. 8 , 12408 . https://doi.org/10.1038/s41598-018-29211-1Test; ORCID: /0000-0003-4322-6942/work/49162893; ORCID: /0000-0003-0672-554X/work/66367082; http://hdl.handle.net/10138/246617Test; 79ef2df1-7197-41a6-bdcb-00c185894dc5; 85051717804; 000441876700111

الإتاحة: http://hdl.handle.net/10138/246617Test

المؤلفون: Haukka, Jani K., Sandholm, Niina, Forsblom, Carol, Cobb, Jeffrey E., Groop, Per-Henrik, Ferrannini, Ele

المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-018-32085-yTest
https://www.nature.com/articles/s41598-018-32085-y.pdfTest
https://www.nature.com/articles/s41598-018-32085-yTest