المؤلفون: Ibrahim, Hazem, Balboa, Diego, Saarimäki-Vire, Jonna, Montaser, Hossam, Dyachok, Oleg, 1965, Lund, Per-Eric, Omar-Hmeadi, Muhmmad, Kvist, Jouni, Dwivedi, Om P., Lithovius, Väinö, Barsby, Tom, Chandra, Vikash, Eurola, Solja, Ustinov, Jarkko, Tuomi, Tiinamaija, Miettinen, Päivi J., Barg, Sebastian, 1969, Tengholm, Anders, 1971, Otonkoski, Timo

المصدر: Diabetologia. 67(8):1642-1662

مصطلحات موضوعية: Beta cells, Glucose-stimulated insulin secretion, Isogenic allelic series models, Monogenic diabetes, Stem-cell-derived islets, Type 2 diabetes

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-543674
https://doi.org/10.1007/s00125-024-06163-y
https://uu.diva-portal.org/smash/get/diva2:1915486/FULLTEXT01.pdf

المؤلفون: Balboa, Diego, Barsby, Tom, Lithovius, Väinö, Saarimäki-Vire, Jonna, Omar-Hmeadi, Muhmmad, Dyachok, Oleg, 1965, Montaser, Hossam, Lund, Per-Eric, Yang, Mingyu, Ibrahim, Hazem, Näätänen, Anna, Chandra, Vikash, Vihinen, Helena, Jokitalo, Eija, Kvist, Jouni, Ustinov, Jarkko, Nieminen, Anni I, Kuuluvainen, Emilia, Hietakangas, Ville, Katajisto, Pekka, Lau, Joey, 1979, Carlsson, Per-Ola, Barg, Sebastian, 1969, Tengholm, Anders, 1971, Otonkoski, Timo

المصدر: Nature Biotechnology. 40(7):1042-1055

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-473728
https://doi.org/10.1038/s41587-022-01219-z
https://uu.diva-portal.org/smash/get/diva2:1655667/FULLTEXT01.pdf

المؤلفون: Pancreatic Agenesis Gene Discovery, De Franco, Elisa, Owens, Nick D. L., Montaser, Hossam, Wakeling, Matthew N., Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego, Caswell, Richard C., Jennings, Rachel E., Kvist, Jouni A., Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F., Maddirevula, Sateesh, Alkuraya, Fowzan S., Hanley, Neil A., Flanagan, Sarah E., Otonkoski, Timo, Hattersley, Andrew T., Imbeault, Michael

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Centre of Excellence in Stem Cell Metabolism, Helsinki One Health (HOH), HUS Children and Adolescents, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital

مصطلحات موضوعية: Zinc-finger proteins, Visceral endoderm, Gene, Onset, Gata4, Methyltransferase, Differentiation, Mutations, Enhancer, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We are grateful to the patients and their families for taking part in our gene discovery study. We also thank S. Eurola, J. Ustinov and R. Ward for expert technical assistance. This work was supported by a Wellcome Trust Collaborative Award in Science to E.D.F., N.D.L.O., T.O., A.T.H. and M.I. (grant no. 224600/Z/21/Z). E.D.F. is a Diabetes UK RD Lawrence Fellow (19/005971) and has been the recipient of an EFSD Rising Star fellowship during this study. A.T.H. and S.E. were the recipients of a Wellcome Trust Senior Investigator award (grant no. WT098395/Z/12/Z) during this study and A.T.H. is employed as a core member of staff in the NIH Research-funded Exeter Clinical Research Facility and is an NIHR Emeritus Senior Investigator. M.I. has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (grant no. 206688/Z/17/Z). S.E.F. has a Wellcome Trust Senior Research Fellowship (grant no. 105636/Z/14/Z). N.D.L.O. has a lectureship funded by a Research England's Expanding Excellence in England (E3) award. M.B.J. and M.N.W. are recipients of an Exeter Diabetes Centre of Excellence Independent Fellowship funded by E3. The work was supported by the National Institute for Health Research (NIHR) Exeter Biomedical Research Centre, Exeter, UK. R.E.J. is a Diabetes UK Harry Keen Clinician Scientist fellow (20/0006263) and received an Academy of Sciences Starter grant during this project. N.A.H. is funded by the Medical Research Council (grant nos. MR/000638/1 and MR/S036121/1). Most of the experimental studies were funded by the Academy of Finland Center of Excellence MetaStem (grant no. 312437), the Novo Nordisk Foundation (grant no. 0057286) and the Sigrid Juselius Foundation. H.M. is a member of the Doctoral Program in Integrative Life Science at University of Helsinki. A.T.'s doctoral studies were funded by the Foundation for Education and European Culture (IPEP) in Greece and by the Cambridge Trust. D.B. received funding from a European Molecular Biology Organization long-term fellowship (ALTF 295-2019). King Salman Center for Disability Research funded exome sequencing analysis for one case through Research Group no. RG-2022-010. For the purpose of open access, the author has applied a CC BY public copyright licence to any author accepted manuscript version arising from this submission.; http://hdl.handle.net/10138/569488; 85176724064; 001102934600001

الاتاحة: http://hdl.handle.net/10138/569488

المؤلفون: Suppa, Antonio, Kvist, Jouni, Li, Xiaojing, Dhandapani, Vignesh, Almulla, Hanan, Tian, Antoine Y, Kissane, Stephen, Zhou, Jiarui, Perotti, Alessio, Mangelson, Hayley, Langford, Kyle, Rossi, Valeria, Brown, James B, Orsini, Luisa

المصدر: Microbiome. 8(1)

مصطلحات موضوعية: Animals, Daphnia, Glycine, Embryonic Development, Metabolic Networks and Pathways, Gastrointestinal Microbiome, Digestive Diseases, Human Genome, Genetics, Oral and gastrointestinal, Ecology, Microbiology, Medical Microbiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3sh0c85p

المؤلفون: Kvist, Jouni, Athanàsio, Camila Gonçalves, Pfrender, Michael E, Brown, James B, Colbourne, John K, Mirbahai, Leda

المصدر: BMC Genomics. 21(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Women's Health, Human Genome, Biotechnology, 1.1 Normal biological development and functioning, Animals, DNA Methylation, Daphnia, Epigenesis, Genetic, Epigenomics, Female, Gene Expression, Histones, Lysine, Male, Methylation, Phenotype, Promoter Regions, Genetic, Sex Factors, Epigenetics, Evolution, Gene expression, Non-conventional model organisms, Information and Computing Sciences, Medical and Health Sciences, Bioinformatics, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4d13v6qp
https://escholarship.org/content/qt4d13v6qp/qt4d13v6qp.pdf

المؤلفون: Thorngren, Julia, Brboric, Anja, Vasylovska, Svitlana, Hjelmqvist, Daisy, Westermark, Gunilla T., Saarimäki-Vire, Jonna, Kvist, Jouni, Balboa, Diego, Otonkoski, Timo, Carlsson, Per-Ola, Lau, Joey, 1979

المصدر: National initiative on Stem Cells for Regenerativ Therapy EXODIAB (Excellence of Diabetes Research in Sweden) Diabetes. 73(7):1127-1139

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525230

المؤلفون: Chandra, Vikash, Ibrahim, Hazem, Halliez, Clémentine, Prasad, Rashmi B, Vecchio, Federica, Dwivedi, Om Prakash, Kvist, Jouni, Balboa, Diego, Saarimäki-Vire, Jonna, Montaser, Hossam, Barsby, Tom, Lithovius, Väinö, Artner, Isabella, Gopalakrishnan, Swetha, Groop, Leif, Mallone, Roberto, Eizirik, Decio L, Otonkoski, Timo

المصدر: Nature Communications EXODIAB: Excellence of Diabetes Research in Sweden StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 13(1)

مصطلحات موضوعية: Humans, Interferon-alpha/pharmacology, Diabetes Mellitus, Type 1/genetics, TYK2 Kinase/genetics, Proto-Oncogene Proteins p21(ras)/metabolism, Insulins/metabolism, Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes

URL الوصول: https://lup.lub.lu.se/record/157c8aea-383a-426b-827e-946b87618fd9
http://dx.doi.org/10.1038/s41467-022-34069-z

المؤلفون: Kvist, Jouni, Athanàsio, Camila Gonçalves, Solari, Omid Shams, Brown, James B, Colbourne, John K, Pfrender, Michael E, Mirbahai, Leda

المصدر: Genome Biology and Evolution. 10(8)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Generic health relevance, Animals, CpG Islands, DNA Methylation, Daphnia, Evolution, Molecular, Gene Expression Regulation, Genetic Variation, Genotype, Phylogeny, Species Specificity, epigenetics, gene expression, evolution, non-conventional models, Biochemistry and Cell Biology, Evolutionary Biology, Developmental Biology, Biochemistry and cell biology, Evolutionary biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/76p3q7q7
https://escholarship.org/content/qt76p3q7q7/qt76p3q7q7.pdf

المؤلفون: Franco, Elisa De, Owens, Nick, Montaser, Hossam, Wakeling, Matthew, Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem Gamal, Balboa, Diego, Caswell, Richard, Jennings, Rachel E., Kvist, Jouni, Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F, Maddirevula, Sateesh, Alkuraya, Fowzan S, Laimon, Wafaa, Hassan, Samar S., Abdullah, Mohamed A., Fritzberg, Anders, Wakeling, Emma, Nathwani, Nisha, Elbarbary, Nancy, Osman, Amani, Alkandari, Hessa, alTararwa, Abeer, Habeb, Abdelhadi, Al-Agha, Abdulmoein Eid, Ahmad, Ihab Abdulhamed, Aldulaimi, Majida Noori Nasaif, Ustyol, Ala, Binomar, Hiba Mohammed Amin, Shagrani, Mohammad, Hanley, Neil, Flanagan, Sarah, Otonkoski, Timo, Hattersley, Andrew, Imbeault, Michael

المصدر: Franco , E D , Owens , N , Montaser , H , Wakeling , M , Saarimäki-Vire , J , Triantou , A , Ibrahim , H G , Balboa , D , Caswell , R , Jennings , R E , Kvist , J , Johnson , M B , Muralidharan , S , Ellard , S , Wright , C F , Maddirevula , S , Alkuraya , F S , Laimon , W , Hassan , S S , Abdullah , M A , Fritzberg , A , Wakeling , E , Nathwani , N ....

Relation: https://research.manchester.ac.uk/en/publications/fc355949-5dac-41c8-9249-b27c9a316fc8

الاتاحة: https://research.manchester.ac.uk/en/publications/fc355949-5dac-41c8-9249-b27c9a316fc8
https://doi.org/10.1038/s41588-023-01565-x

المؤلفون: Wang, Yafei, Madhusudan, Shrinidhi, Cotellessa, Ludovica, Kvist, Jouni, Eskici, Nazli, Yellapragada, Venkatram, Pulli, Kristiina, Lund, Carina, Vaaralahti, Kirsi, Tuuri, Timo, Giacobini, Paolo, Raivio, Taneli

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Department of Physiology, Research Programs Unit, University of Helsinki, Medicum, Raivio Group, HUS Children and Adolescents, Children's Hospital, HUS Gynecology and Obstetrics, Timo Pyry Juhani Otonkoski / Principal Investigator, Clinicum, Helsinki University Hospital Area, Department of Obstetrics and Gynecology

مصطلحات موضوعية: MICROTUBULE-ASSOCIATED PROTEIN, MEDIUM SPINY NEURONS, GENE-EXPRESSION, HORMONE NEURONS, POLYSIALIC ACID, MESSENGER-RNA, MOUSE, MIGRATION, NEUROGENESIS, DOUBLECORTIN, Biochemistry, cell and molecular biology, 11832 Microbiology and virology, Cancers

وصف الملف: application/pdf

Relation: This work has been funded by Academy of Finland (315616 and 275259 to T.R.); Sigrid Juselius Foundation (T. R.); Novo Nordisk Fonden (NNF17OC0027448 to T.R.); Foundation for Pediatric Research (T.R.); The Hospital District of Helsinki and Uusimaa/Children and Adolescents (T. R.); European Union's Horizon 2020 research and innovation program under the HORIZON EUROPE Marie Sklodowska-Curie Actions grant agreement (894596 to Y.W.); European Union's Horizon 2020 research and innovation program under the HORIZON EUROPE Marie Sklodowska-Curie Actions grant agreement (813707 to S.M.); Paivikki ja Sakari Sohlberg Saatio (V.Y.); Instrumentarium Tiedesaatio (V. Y. and N.E). This work was supported by the Inserm Cross-Cutting Scientific Program (HuDeCA to P. G.), by the Agence Nationale de la Recherche (ANR), France (grant number ANR-19CE16-0021-02 to P.G.).; Wang , Y , Madhusudan , S , Cotellessa , L , Kvist , J , Eskici , N , Yellapragada , V , Pulli , K , Lund , C , Vaaralahti , K , Tuuri , T , Giacobini , P & Raivio , T 2022 , ' Deciphering the Transcriptional Landscape of Human Pluripotent Stem Cell-Derived GnRH Neurons : The Role of Wnt Signaling in Patterning the Neural Fate ' , Stem Cells , vol. 40 , no. 12 , pp. 1107–1121 . https://doi.org/10.1093/stmcls/sxac069; http://hdl.handle.net/10138/568422; 1fb86192-3f86-4187-ac7a-def5cf4da1e5; 000870794600001

الاتاحة: http://hdl.handle.net/10138/568422

المؤلفون: Rönkkö, Julius, Rodriguez, Yago, Rasila, Tiina, Torregrosa-Munumer, Ruben, Pennonen, Jana, Kvist, Jouni, Kuuluvainen, Emilia, Van Den Bosch, Ludo, Hietakangas, Ville, Bultynck, Geert, Tyynismaa, Henna, Ylikallio, Emil

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Centre of Excellence in Stem Cell Metabolism, Helsinki Institute of Life Science HiLIFE, Institute of Biotechnology, Faculty of Biological and Environmental Sciences, Molecular and Integrative Biosciences Research Programme, Nutrient sensing laboratory, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator, Department of Neurosciences, Clinicum, HUS Neurocenter, Neurologian yksikkö

مصطلحات موضوعية: Ca2+signaling, Induced pluripotent stem cells, Inositol 14,5-trisphosphate receptors, Mitochondria, Tca, iPSC, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: We thank the MetaStem Metabolomics Unit for the shared resources. FIMM Technology Centre's Sequencing Laboratory (FIMM SeqLab) is acknowledged for Sanger sequencing. The service for running the Stem cell characterization panel was provided by the Biomedicum Functional Genomics Unit at the Helsinki Institute of Life Science and Biocenter Finland at the University of Helsinki. This research was supported by Academy of Finland Centre of Excellence on Stem Cell Metabolism. Academy of Finland Clinical Researcher Funding, The Finnish Medical Foundation, HUS Helsinki University Hospital, Sigrid Juselius Foundation, Paivikki & amp; Sakari Sohlberg Foundation, Paulo Foundation, Emil Aaltonen Foundation, and the Medicine Fund and the Doctoral Programme in Biomedicine of the University of Helsinki. Research in the Bultynck lab was supported by research grants from the Research Council KU Leuven (C14/19/099 and AKUL/19/34 to GB) and from the Research Foundation - Flanders (FWO; G.0818.21N to GB) . GB co-ordinates FWO-WOG CaSign (W001422N) . We thank Rita La Rovere, Kristel Eggermont, Anja Florizoone and Tomas Luyten for excellent technical assistance.; http://hdl.handle.net/10138/565081; 85165465430; 001054904700001

الاتاحة: http://hdl.handle.net/10138/565081

المؤلفون: De Franco, Elisa, Owens, Nick DL, Montaser, Hossam, Wakeling, Matthew N, Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego, Caswell, Richard C, Jennings, Rachel E, Kvist, Jouni A, Johnson, Matthew B, Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F, Maddirevula, Sateesh, Alkuraya, Fowzan S, Pancreatic Agenesis Gene Discovery Consortium, Hanley, Neil A, Flanagan, Sarah E, Otonkoski, Timo, Hattersley, Andrew T, Imbeault, Michael

مصطلحات موضوعية: Animals, Humans, Cell Differentiation, DNA Transposable Elements, Genome, Human, Primates, DNA-Binding Proteins, Congenital Abnormalities, Pancreas

وصف الملف: application/pdf; application/zip; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/362137

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/362137

المؤلفون: Konovalova, Svetlana, Torregrosa-Munumer, Ruben, Manjunath, Pooja, Liu, Xiaonan, Baral, Sundar, Fatima, Kaneez, Holopainen, Minna, Kvist, Jouni, Rajendran, Jayasimman, Yang, Yang, Varjosalo, Markku, Käkelä, Reijo, Somerharju, Pentti, Tyynismaa, Henna

المساهمون: Institute of Biotechnology, Centre of Excellence in Stem Cell Metabolism, Henna Tyynismaa / Principal Investigator, STEMM - Stem Cells and Metabolism Research Program, Molecular Systems Biology, Molecular and Integrative Biosciences Research Programme, Functional Lipidomics Group, Department of Biochemistry and Developmental Biology, Helsinki Institute of Life Science HiLIFE, Department of Medical and Clinical Genetics, Research Programs Unit

مصطلحات موضوعية: Nerclin, Opa1, Cardiolipin, Prohibitins, Small mitochondrial proteins, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: Konovalova , S , Torregrosa-Munumer , R , Manjunath , P , Liu , X , Baral , S , Fatima , K , Holopainen , M , Kvist , J , Rajendran , J , Yang , Y , Varjosalo , M , Käkelä , R , Somerharju , P & Tyynismaa , H 2023 , ' Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 120 , no. 30 , e2210599120 . https://doi.org/10.1073/pnas.2210599120; ORCID: /0000-0002-2493-2422/work/146409497; ORCID: /0000-0002-1340-9732/work/146411726; ORCID: /0000-0002-3030-8677/work/146413067; ORCID: /0000-0003-2519-7754/work/146414359; http://hdl.handle.net/10138/566775; 98cf7524-279a-433b-9ef4-d2a213353d73; 001083458500001

الاتاحة: http://hdl.handle.net/10138/566775

المؤلفون: Orsini, Luisa, Brown, James B, Solari, Omid Shams, Li, Dong, He, Shan, Podicheti, Ram, Stoiber, Marcus H, Spanier, Katina I, Gilbert, Donald, Jansen, Mieke, Rusch, Douglas B, Pfrender, Michael E, Colbourne, John K, Frilander, Mikko J, Kvist, Jouni, Decaestecker, Ellen, De Schamphelaere, Karel AC, De Meester, Luc

المصدر: Molecular Ecology. 27(4)

مصطلحات موضوعية: Genetics, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, Animals, Conserved Sequence, Daphnia, Gene Expression Regulation, Gene Regulatory Networks, Genome, Genotype, Multigene Family, Transcription, Genetic, abiotic stressors, biotic stressors, differential co-expression networks, differential gene expression, ecological gene annotation, ecoresponsive genes, waterflea, Biological Sciences, Evolutionary Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3vf7d4sc

المؤلفون: Orsini, Luisa, Gilbert, Donald, Podicheti, Ram, Jansen, Mieke, Brown, James B, Solari, Omid Shams, Spanier, Katina I, Colbourne, John K, Rusch, Douglas B, Decaestecker, Ellen, Asselman, Jana, De Schamphelaere, Karel AC, Ebert, Dieter, Haag, Christoph R, Kvist, Jouni, Laforsch, Christian, Petrusek, Adam, Beckerman, Andrew P, Little, Tom J, Chaturvedi, Anurag, Pfrender, Michael E, De Meester, Luc, Frilander, Mikko J

المصدر: Scientific data. 4(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0nw5s2jc

المؤلفون: Orsini, Luisa, Gilbert, Donald, Podicheti, Ram, Jansen, Mieke, Brown, James B, Solari, Omid Shams, Spanier, Katina I, Colbourne, John K, Rusch, Douglas B, Decaestecker, Ellen, Asselman, Jana, De Schamphelaere, Karel AC, Ebert, Dieter, Haag, Christoph R, Kvist, Jouni, Laforsch, Christian, Petrusek, Adam, Beckerman, Andrew P, Little, Tom J, Chaturvedi, Anurag, Pfrender, Michael E, De Meester, Luc, Frilander, Mikko J

المصدر: Scientific Data. 4(1)

مصطلحات موضوعية: Biological Sciences, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0nw5s2jc

المؤلفون: Orsini, Luisa, Gilbert, Donald, Podicheti, Ram, Jansen, Mieke, Brown, James B, Solari, Omid Shams, Spanier, Katina I, Colbourne, John K, Rusch, Douglas B, Decaestecker, Ellen, Asselman, Jana, De Schamphelaere, Karel AC, Ebert, Dieter, Haag, Christoph R, Kvist, Jouni, Laforsch, Christian, Petrusek, Adam, Beckerman, Andrew P, Little, Tom J, Chaturvedi, Anurag, Pfrender, Michael E, De Meester, Luc, Frilander, Mikko J

المصدر: Scientific data. 3(1)

مصطلحات موضوعية: Animals, Daphnia, RNA, Base Sequence, Genome, Databases, Genetic, Gene-Environment Interaction, Transcriptome, Databases, Genetic

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/62k9738d

المؤلفون: Järvilehto, Julius, Harjuhaahto, Sandra, Palu, Edouard, Auranen, Mari, Kvist, Jouni, Zetterberg, Henrik, Koskivuori, Johanna, Lehtonen, Marko, Saukkonen, Anna Maija, Jokela, Manu, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Tampere University, Clinical Medicine, Department of Neurosciences and Rehabilitation

مصطلحات موضوعية: 3112 Neurosciences

وصف الملف: fulltext

Relation: 793937; 13; https://trepo.tuni.fi/handle/10024/138538

الاتاحة: https://trepo.tuni.fi/handle/10024/138538
https://doi.org/10.3389/fneur.2022.793937

المؤلفون: Kenvin, Sebastian, Torregrosa-Munumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J., Rannila, Erika, Kvist, Jouni, Sainio, Markus T., Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Department of Physics, Centre of Excellence in Stem Cell Metabolism, Medicum, HUS Neurocenter, Clinicum, Neurologian yksikkö, Research Programs Unit, Institute of Biotechnology, Materials Physics, Helsinki Institute of Life Science HiLIFE, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator, Neuroscience Center

مصطلحات موضوعية: Biomedicine, metabolism, mutation, dna, mitochondrial, lactates, motor neurons, heteroplasmy

وصف الملف: application/pdf

Relation: Valtion perusrahoitus/hankkeet; The Academy of Finland, University of Helsinki, Magnus Ehrnrooth Foundation, Sigrid Juselius Foundation and Emil Aaltonen Foundation. University of Eastern Finland Doctoral Program in Molecular Medicine (to N.H.).; Kenvin , S , Torregrosa-Munumer , R , Reidelbach , M , Pennonen , J , Turkia , J J , Rannila , E , Kvist , J , Sainio , M T , Huber , N , Herukka , S-K , Haapasalo , A , Auranen , M , Trokovic , R , Sharma , V , Ylikallio , E & Tyynismaa , H 2022 , ' Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism ' , Human Molecular Genetics , vol. 31 , no. 6 , pp. 958-974 . https://doi.org/10.1093/hmg/ddab299; ORCID: /0000-0002-2493-2422/work/114604489; ORCID: /0000-0002-3065-6663/work/114604778; ORCID: /0000-0001-5178-0703/work/114605668; ORCID: /0000-0002-8838-3151/work/114607606; http://hdl.handle.net/10138/345126; 9fcf98be-1ed6-42df-8066-926fa3c760cc; 85127989163; 000790170700001

الاتاحة: http://hdl.handle.net/10138/345126

المؤلفون: Chandra, Vikash, Ibrahim, Hazem, Halliez, Clementine, Prasad, Rashmi B., Vecchio, Federica, Dwivedi, Om Prakash, Kvist, Jouni, Balboa, Diego, Saarimäki-Vire, Jonna, Montaser, Hossam, Barsby, Tom, Lithovius, Väinö, Artner, Isabella, Gopalakrishnan, Swetha, Groop, Leif, Mallone, Roberto, Eizirik, Decio L., Otonkoski, Timo

المساهمون: Research Programs Unit, Faculty Common Matters (Faculty of Medicine), STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Institute of Biotechnology, Clinicum, Centre of Excellence in Complex Disease Genetics, Leif Groop Research Group, HUS Abdominal Center, Children's Hospital, Helsinki One Health (HOH), HUS Children and Adolescents

مصطلحات موضوعية: ENDOCRINE DIFFERENTIATION, R-PACKAGE, EXPRESSION, APOPTOSIS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We gratefully acknowledge Dr. Fatoumata Samassa for help with cytotoxicity assays. We thank Jarkko Ustinov for the insulin and c-peptide ELISA measurements. S. Eurola, H. Grym, and A. Laitinen are thanked for expert technical support. We thank FIMM Single Cell Analytics unit (supported by HiLIFE and Biocentre Finland) for single cell RNA sequencing services. We want to acknowledge the participants and investigators of the FinnGen study. T.O. acknowledges the funding provided by the Academy of Finland (MetaStem Center of Excellence grant 312437), the Novo Nordisk Foundation and the Sigrid Juselius Foundation. R.M. acknowledges the support of the Agence Nationale de la Recherche (ANR-19-CE15-0014-01) and the Fondation pour la Recherche Medicale (EQU20193007831). C.H. was funded by an Annee Recherche fellowship of the Paris Saclay University. F.V. was funded by an international PhD fellowship of the IdEx Universite de Paris. R.B.P. acknowledges the funding by Hjelt foundation, Crafoord foundation (2020089) and Swedish Research Council (2021-02623). D.L.E. acknowledges the support of grants from the Welbio-FNRS (Fonds National de la Recherche Scientifique; WELBIO-CR-2019C-04), Belgium; the Innovate2CureType1-Dutch Diabetes Research Foundation (DDRF), Holland; the Juvenile Diabetes Foundation (JDRF; 2-SRA-2019-834-S-B); the NIH (HIRN-CBDS) grant U01 DK127786, USA. D.L.E., T.O., and R.M. acknowledge support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreements No 115797 (INNODIA) and 945268 (INNODIA HARVEST), supported by the European Union's Horizon 2020 research and innovation programme. These Joint Undertakings receive support from the Union's Horizon 2020 research and innovation programme and "EFPIA", "JDRF" and "The Leona M. and Harry B. Helmsley Charitable Trust".; Chandra , V , Ibrahim , H , Halliez , C , Prasad , R B , Vecchio , F , Dwivedi , O P , Kvist , J , Balboa , D , Saarimäki-Vire , J , Montaser , H , Barsby , T , Lithovius , V , Artner , I , Gopalakrishnan , S , Groop , L , Mallone , R , Eizirik , D L & Otonkoski , T 2022 , ' The type 1 diabetes gene TYK2 regulates beta-cell development and its responses to interferon-alpha ' , Nature Communications , vol. 13 , no. 1 , 6363 . https://doi.org/10.1038/s41467-022-34069-z; ORCID: /0000-0002-1537-5548/work/124031042; ORCID: /0000-0003-0879-1807/work/124032742; ORCID: /0000-0002-8865-7060/work/159903877; http://hdl.handle.net/10138/351275; 153b8869-6a4d-428d-8808-494b333d6cae; 000874935700004

الاتاحة: http://hdl.handle.net/10138/351275