Search Results - Balbas, Diego

1

Academic Journal

Authors: Quintero Balbas, Diego Ivan, Pezzati, Luca, Cattaneo, Barbara, Righetti, Valentina, Striova, Jana

Contributors: Italian Ministry for Universities and Research, Italian Ministry of University and Research, Next Generation EU, Regione Toscana

Superior Title: Journal of Physics: Photonics ; ISSN 2515-7647

Availability: https://doi.org/10.1088/2515-7647/ad41ab

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2

Academic Journal

Primate-specific ZNF808 is essential for pancreatic development in humans

Contributors: 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

Subject Terms: Zinc-finger proteins, Visceral endoderm, Gene, Onset, Gata4, Methyltransferase, Differentiation, Mutations, Enhancer, 1184 Genetics, developmental biology, physiology

File Description: 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.; Pancreatic Agenesis Gene Discovery , De Franco , E , Owens , N D L , Montaser , H , Wakeling , M N , Saarimäki-Vire , J , Triantou , A , Ibrahim , H , Balboa , D , Caswell , R C , Jennings , R E , Kvist , J A , Johnson , M B , Muralidharan , S , Ellard , S , Wright , C F , Maddirevula , S , Alkuraya , F S , Hanley , N A , Flanagan , S E , Otonkoski , T , Hattersley , A T & Imbeault , M 2023 , ' Primate-specific ZNF808 is essential for pancreatic development in humans ' , Nature Genetics , vol. 55 , pp. 2075–2081 . https://doi.org/10.1038/s41588-023-01565-x; 71071293-9ffa-4336-8e57-e2f95b6fb875; http://hdl.handle.net/10138/569488; 001102934600001

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

3

Academic Journal

Differentiating functional human islet-like aggregates from pluripotent stem cells

Authors: Barsby, Tom, Ibrahim, Hazem, Lithovius, Väinö, Montaser, Hossam, Balboa, Diego, Vähäkangas, Eliisa, Chandra, Vikash, Saarimäki-Vire, Jonna, Otonkoski, Timo

Contributors: STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Doctoral Programme in Biomedicine, Doctoral Programme in Integrative Life Science, Timo Pyry Juhani Otonkoski / Principal Investigator, University of Helsinki, Faculty Common Matters (Faculty of Medicine), Clinicum, Research Programs Unit, Children's Hospital, Helsinki One Health (HOH), HUS Children and Adolescents

Subject Terms: Cell differentiation, Stem cells, 3111 Biomedicine

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Relation: https://doi.org/10.1016/j.xpro.2022.101711; STAR protocols; Barsby , T , Ibrahim , H , Lithovius , V , Montaser , H , Balboa , D , Vähäkangas , E , Chandra , V , Saarimäki-Vire , J & Otonkoski , T 2022 , ' Differentiating functional human islet-like aggregates from pluripotent stem cells ' , STAR protocols , vol. 3 , no. 4 , 101711 . https://doi.org/10.1016/j.xpro.2022.101711; PURE: 256206956; PURE UUID: ca84f2f6-3a9d-469b-af74-26724a42ad12; Scopus: 85138535884; PubMed: 36136756; ORCID: /0000-0002-1537-5548/work/129621994; ORCID: /0000-0003-0879-1807/work/129622393; WOS: 001062185100005; http://hdl.handle.net/10138/355055; http://www.scopus.com/inward/record.url?scp=85138535884&partnerID=8YFLogxK

Availability: https://doi.org/10.1016/j.xpro.2022.101711
http://hdl.handle.net/10138/355055
http://www.scopus.com/inward/record.url?scp=85138535884&partnerID=8YFLogxK

4

Academic Journal

SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism

Authors: Lithovius, Väino, Saarimaki-Vire, Jonna, Balboa, Diego, Ibrahim, Hazem, Montaser, Hossam, Barsby, Tom, Otonkoski, Timo

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

Subject Terms: Beta cells, Congenital hyperinsulinism, Disease modelling, Induced pluripotent stem cells, K-ATP-channel, Pancreatic islet development, Stem cell-derived islets, PANCREATIC BETA-CELLS, INSULIN-SECRETION, IN-VITRO, PROLIFERATION, HYPOGLYCEMIA, GENERATION, INFANCY, MICE, PROGENITORS, EXPRESSION, 3121 General medicine, internal medicine and other clinical medicine

File Description: application/pdf

Relation: https://doi.org/10.1007/s00125-020-05346-7; Diabetologia; Lithovius , V , Saarimaki-Vire , J , Balboa , D , Ibrahim , H , Montaser , H , Barsby , T & Otonkoski , T 2021 , ' SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism ' , Diabetologia , vol. 64 , no. 3 , pp. 630-640 . https://doi.org/10.1007/s00125-020-05346-7; PURE: 160000519; PURE UUID: 027c3e0f-7ed2-4554-bdfc-798b1ec4e06d; WOS: 000605540700003; ORCID: /0000-0002-1537-5548/work/127507640; http://hdl.handle.net/10138/353422

Availability: https://doi.org/10.1007/s00125-020-05346-7
http://hdl.handle.net/10138/353422

5

Academic Journal

Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells

Authors: Sepponen, Kirsi, Lundin (Stenroos), Karolina, Yohannes, Dawit A., Vuoristo, Sanna, Balboa, Diego, Poutanen, Matti, Ohlsson, Claes, Hustad, Steinar, Bifulco, Ersilia, Paloviita, Pauliina, Otonkoski, Timo, Ritvos, Olli, Sainio, Kirsi, Tapanainen, Juha S., Tuuri, Timo

Contributors: HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, TRIMM - Translational Immunology Research Program, Department of Medical and Clinical Genetics, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Faculty of Medicine, Helsinki One Health (HOH), HUS Children and Adolescents, Clinicum, Research Programs Unit, Children's Hospital, Department of Physiology, Growth factor physiology, Department of Biochemistry and Developmental Biology, Reproductive Disease Modeling

Subject Terms: 3123 Gynaecology and paediatrics

File Description: application/pdf

Relation: https://doi.org/10.1016/j.diff.2022.08.001; Differentiation; Sepponen , K , Lundin (Stenroos) , K , Yohannes , D A , Vuoristo , S , Balboa , D , Poutanen , M , Ohlsson , C , Hustad , S , Bifulco , E , Paloviita , P , Otonkoski , T , Ritvos , O , Sainio , K , Tapanainen , J S & Tuuri , T 2022 , ' Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells ' , Differentiation , vol. 128 , pp. 83-100 . https://doi.org/10.1016/j.diff.2022.08.001; PURE: 249993091; PURE UUID: aa63f9ce-7bf2-4d01-bded-bb143fc0e088; http://hdl.handle.net/10138/355332

Availability: https://doi.org/10.1016/j.diff.2022.08.001
http://hdl.handle.net/10138/355332

6

Academic Journal

Analytical studies on commercial artists’ colour charts from Das Deutsche Farbenbuch (1925)—identification of synthetic and natural organic colourants by Raman microscopy, surface-enhanced Raman spectroscopy and metal underlayer ATR-FTIR spectroscopy

Authors: Sessa, Clarimma^{Aff1, IDs40494022007403_cor1}, Steuer, Christoph, Quintero Balbas, Diego, Sciutto, Giorgia, Prati, Silvia, Stege, Heike

Superior Title: Heritage Science. 10(1)

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7

Academic Journal

Non-invasive contactless analysis of an early drawing by Raffaello Sanzio by means of optical methods

Authors: Quintero Balbas, Diego, Dal Fovo, Alice, Montalbano, Letizia, Fontana, Raffaella, Striova, Jana^{Aff1, IDs41598022186002_cor5}

Superior Title: Scientific Reports. 12(1)

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8

Report

E-RIHS IP D5.3 E-RIHS ERIC Catalogue of Service: Approach and Advancement

Authors: Benassi, Laura, Striova, Jana, Quintero Balbas, Diego Ivan, Manconi, Silvia, Szikzsai, Zita

Contributors: Doherty, Brenda, Padfield, Joseph, Sotiropoulou, Sophia

Subject Terms: catalogue of service, user, facilities, digital

Relation: info:eu-repo/grantAgreement/EC/HE/101079148/; https://zenodo.org/communities/e-rihs; https://zenodo.org/record/8392479; https://doi.org/10.5281/zenodo.8392479; oai:zenodo.org:8392479

Availability: https://doi.org/10.5281/zenodo.8392479
https://doi.org/10.5281/zenodo.8392478
https://zenodo.org/record/8392479

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9

Academic Journal

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.

Authors: Ibrahim, Hazem, Balboa, Diego, Saarimäki-Vire, Jonna, Montaser, Hossam, Dyachok, Oleg, 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, Tengholm, Anders, Otonkoski, Timo

Superior Title: Diabetologia ; ISSN:1432-0428

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

Relation: https://doi.org/10.1007/s00125-024-06163-y; https://pubmed.ncbi.nlm.nih.gov/38743124

Availability: https://doi.org/10.1007/s00125-024-06163-y
https://pubmed.ncbi.nlm.nih.gov/38743124

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10

Academic Journal

Non-invasive identification of textile fibres using near-infrared fibre optics reflectance spectroscopy and multivariate classification techniques

Authors: Quintero Balbas, Diego, Lanterna, Giancarlo, Cirrincione, Claudia, Fontana, Raffaella, Striova, Jana^{Aff1, IDepjps13360021022671_cor5}

Superior Title: The European Physical Journal Plus. 137(1)

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11

Academic Journal

The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A.

Authors: Beucher, Anthony, Miguel-Escalada, Irene, Balboa, Diego, De Vas, Matías G, Maestro, Miguel Angel, Garcia-Hurtado, Javier, Bernal, Aina, Gonzalez-Franco, Roser, Vargiu, Pierfrancesco, Heyn, Holger, Ravassard, Philippe, Ortega, Sagrario, Ferrer, Jorge

Contributors: UK Research and Innovation, Wellcome Trust, Unión Europea. Comisión Europea. European Research Council (ERC), Ministerio de Ciencia y Universidades (España), NIHR - Imperial Biomedical Research Centre (Reino Unido), Centres de Recerca de Catalunya (CERCA), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)

Subject Terms: Hepatocyte Nuclear Factor 1-alpha, Promoter Regions, Genetic, RNA, Long Noncoding, Animals, Humans, Mice, Mammals, Transcription

Relation: https://doi.org/10.1038/s41556-022-00996-8.; info:eu-repo/grantAgreement/EC/H2020/789055/EU; info:eu-repo/grantAgreement/ES/BFU2014-54284-R; info:eu-repo/grantAgreement/ES/RTI2018-095666-B-I00; Nat Cell Biol . 2022 ;24(10):1528-1540.; http://hdl.handle.net/20.500.12105/18896; Nature cell biology

Availability: https://doi.org/20.500.12105/1889610.1038/s41556-022-00996-8
https://hdl.handle.net/20.500.12105/18896

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12

Academic Journal

Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells.

Subject Terms: Cell and Molecular Biology, Cell- och molekylärbiologi, Endocrinology and Diabetes, Endokrinologi och diabetes

File Description: application/pdf

Relation: Nature Biotechnology, 1087-0156, 2022, 40:7, s. 1042-1055; orcid:0000-0001-8893-7348; orcid:0000-0002-8302-3253; orcid:0000-0003-4661-5724; orcid:0000-0003-4508-0836; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-473728; PMID 35241836; ISI:000763931300001

Availability: https://doi.org/10.1038/s41587-022-01219-z
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-473728

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13

Academic Journal

The type 1 diabetes gene TYK2 regulates beta-cell development and its responses to interferon-alpha

Authors: 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

Contributors: 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

Subject Terms: ENDOCRINE DIFFERENTIATION, R-PACKAGE, EXPRESSION, APOPTOSIS, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

File Description: application/pdf

Relation: https://doi.org/10.1038/s41467-022-34069-z; Nature Communications; 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; PURE: 236886205; PURE UUID: 153b8869-6a4d-428d-8808-494b333d6cae; WOS: 000874935700004; ORCID: /0000-0002-1537-5548/work/124031042; ORCID: /0000-0003-0879-1807/work/124032742; http://hdl.handle.net/10138/351275

Availability: https://doi.org/10.1038/s41467-022-34069-z
http://hdl.handle.net/10138/351275

14

Academic Journal

CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells

Authors: Sokka, Juho Joonas, Yoshihara, Masahito, Kvist, Jouni, Laiho, Laura, Warren, Andrew, Stadelmann, Christian, Jouhilahti, Eeva-Mari, Kilpinen, Helena, Balboa, Diego, Katayama, Shintaro, Kyttälä, Aija, Kere, Juha, Otonkoski, Timo, Weltner, Jere, Trokovic, Ras

Contributors: STEMM - Stem Cells and Metabolism Research Program, Helsinki Institute of Life Science HiLIFE, Faculty of Biological and Environmental Sciences, Institute for Molecular Medicine Finland, HUS Children and Adolescents, Children's Hospital

Subject Terms: 1184 Genetics, developmental biology, physiology, CRISPRa, Reprogramming, ingle cell RNA sequencing, CRISPR-Cas9, Transcriptomics, 1182 Biochemistry, cell and molecular biology, MicroRNA (miRNA), iPSC, IPSC GENERATION, Stem cells, EXPRESSION, MOUSE, GENE

File Description: application/pdf

Relation: https://doi.org/10.1016/j.stemcr.2021.12.017; Stem cell reports; Sokka , J J , Yoshihara , M , Kvist , J , Laiho , L , Warren , A , Stadelmann , C , Jouhilahti , E-M , Kilpinen , H , Balboa , D , Katayama , S , Kyttälä , A , Kere , J , Otonkoski , T , Weltner , J & Trokovic , R 2022 , ' CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells ' , Stem cell reports , vol. 17 , no. 2 , pp. 413–426 . https://doi.org/10.1016/j.stemcr.2021.12.017; PURE: 173549433; PURE UUID: 309c87e7-0e13-4020-849c-e344791da711; Scopus: 8512444186; ORCID: /0000-0002-3065-6663/work/110390584; ORCID: /0000-0001-6692-6154/work/110391150; ORCID: /0000-0002-0377-8841/work/110393771; ORCID: /0000-0003-2879-7659/work/110394013; WOS: 000767587200007; http://hdl.handle.net/10138/341871

Availability: https://doi.org/10.1016/j.stemcr.2021.12.017
http://hdl.handle.net/10138/341871

15

Academic Journal

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Authors: Montaser, Hossam, Patel, Kashyap A., Balboa, Diego, Ibrahim, Hazem, Lithovius, Väino, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M., Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T., Saarimaki-Vire, Jonna, Otonkoski, Timo

Contributors: STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Centre of Excellence in Stem Cell Metabolism, Institute for Molecular Medicine Finland, Helsinki One Health (HOH), Molecular and Integrative Biosciences Research Programme, Institute of Biotechnology, Clinicum, Children's Hospital, Timo Pyry Juhani Otonkoski / Principal Investigator, HUS Children and Adolescents

Subject Terms: 3121 General medicine, internal medicine and other clinical medicine

File Description: application/pdf

Relation: https://doi.org/10.2337/db20-1174; Diabetes; Montaser , H , Patel , K A , Balboa , D , Ibrahim , H , Lithovius , V , Näätänen , A , Chandra , V , Demir , K , Acar , S , Ben-Omran , T , Colclough , K , Locke , J M , Wakeling , M , Lindahl , M , Hattersley , A T , Saarimaki-Vire , J & Otonkoski , T 2021 , ' Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress ' , Diabetes , vol. 70 , no. 4 , pp. 1006-1018 . https://doi.org/10.2337/db20-1174; PURE: 161843033; PURE UUID: e41cf91e-e247-4fdd-9cef-444464c96612; WOS: 000630537100017; ORCID: /0000-0002-5674-8830/work/92526174; ORCID: /0000-0002-1537-5548/work/92527125; ORCID: /0000-0003-0879-1807/work/92527497; http://hdl.handle.net/10138/339645

Availability: https://doi.org/10.2337/db20-1174
http://hdl.handle.net/10138/339645