Biobanking and the Cyprus Human Genome Project

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Educated medical, paramedical and scientific personnel, trained to operate a contemporary Biobank

Educated medical paramedical and scientific personnel trained to operate a contemporary Biobank

Establishment of the MediEuro Network to promote regional Biobanking & collaborative medical research

Establishment of the MediEuro Network to promote regional Biobanking collaborative medical research

2nd periodic report on performed dissemination and communication activities
Successful implementation of CS ELSI and procedures for data protection, record and sample retrieval, and for record and sample withdrawal from the Biobank
Dissemination & Communication strategy & action plan
1st peridic report on performed dissemination and communication activities

1st periodic report on performed dissemination and communication activities

Interim status report on new developments or improvements regarding ELSI

Fully operational physical premises of the CoE, with Biobank and research facilities
Operational research infrastructure facilities completely equipped

Project Quality Assurance Plan & Data Management Plan

Publications

Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance

Auteurs: Kaya Akyüz, Gauthier Chassang, Melanie Goisauf, Łukasz Kozera, Signe Mezinska, Olga Tzortzatou & Michaela Th. Mayrhofer
Publié dans: Life Sciences, Society and Policy, 2021, ISSN 2195-7819
Éditeur: BioMed Central, Springer Nature
DOI: 10.1186/s40504-021-00117-7

Guidelines for Genetic Testing and Management of Alport Syndrome

Auteurs: Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adr
Publié dans: ClinIcal Journal of American Society of Nephrology, Numéro 1 (17), 2021, Page(s) 143-154, ISSN 2049-3630
Éditeur: CJASN
DOI: 10.2215/cjn.04230321

Upgrading gold to green nanoparticles: applications in prostate cancer

Auteurs: Nadim Mitri, Kamil Rahme, Giulio Fracasso and Esther Ghanem
Publié dans: Adv. Nat. Sci: Nanosci. Nanotechnol., Numéro 14 (23001), 2023, Page(s) 1-12, ISSN 2043-6262
Éditeur: IOP Publishing Ltd
DOI: 10.1088/2043-6262/acd0aa

A comparative presentation of mouse models that recapitulate most features of Alport syndrome

Auteurs: Stavros Nikolaou1 and Constantinos Deltas1,2,*
Publié dans: Genes, Numéro 10 (13), 2022, Page(s) 1-20, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes13101893

Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes

Auteurs: Andrea Christofides 1, Gregory Papagregoriou 2, Harsh Dweep 3, Neoklis Makrides 4, Norbert Gretz 5, Kyriacos Felekkis 6, Constantinos Deltas 7
Publié dans: Cellular and Molecular Life Sciences, Numéro 1 (77), 2020, Page(s) 2441–2459, ISSN 1420-682X
Éditeur: Birkhauser Verlag
DOI: 10.1007/s00018-019-03294-z

Recommendations on compiling test datasets for evaluating artificial intelligence solutions in pathology

Auteurs: André Homeyer, Christian Geißler, Lars Ole Schwen, Falk Zakrzewski, Theodore Evans, Klaus Strohmenger, Max Westphal, Roman David Bülow, Michaela Kargl, Aray Karjauv, Isidre Munné-Bertran, Carl Orge Retzlaff, Adrià Romero-López, Tomasz Sołtysiński, Markus Plass, Rita Carvalho, Peter Steinbach, Yu-Chia Lan, Nassim Bouteldja, David Haber, Mateo Rojas-Carulla, Alireza Vafaei Sadr, Matthias Kra
Publié dans: Modern Pathology, Numéro 1 (35), 2022, Page(s) 1759-1769, ISSN 0893-3952
Éditeur: Nature Publishing Group
DOI: 10.1038/s41379-022-01147-y

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy

Auteurs: Eleni Frangou 1 2 3, Agathi Varnavidou-Nicolaidou 4, Panayiotis Petousis 5, Andreas Soloukides 1 2, Elena Theophanous 6, Isavella Savva 1 7, Nicos Michael 1 8, Elpida Toumasi 1 2, Dora Georgiou 4, Galatia Stylianou 4, Richard Mean 4, Natasa Anastasiadou 6, Yiannis Athanasiou 1 2, Michalis Zavros 1, Kyriacos Kyriacou 9, Constantinos Deltas 7, Vassilis Hadjianastassiou 1 8
Publié dans: Nephrol Dial Transplant ., Numéro 10 (34), 2019, Page(s) 1780-1788, ISSN 1460-2385
Éditeur: Oxford University Press
DOI: 10.1093/ndt/gfz021

A bovine miRNA, bta-miR-154c, withstands in vitro human digestion but does not affect cell viability of colorectal human cell lines after transfection

Auteurs: Myrtani Pieri,Elena Theori,Harsh Dweep,Myrofora Flourentzou,Foteini Kalampalika,Maria-Arsenia Maniori,Gregory Papagregoriou,Christos Papaneophytou,Kyriacos Felekkis
Publié dans: FEBS Openbio, 2022, ISSN 2211-5463
Éditeur: Elsevier BV
DOI: 10.1002/2211-5463.13402

BIBBOX, a FAIR toolbox and App Store for Life Science Research

Auteurs: Heimo Müller 1, Catarina Lopes-Dias 2, Petr Holub 3, Markus Plass 2, Emilian Jungwirth 2, Robert Reihs 2, Paul R Torke 2, Apostolos Malatras 4, Anouk Berger 5, Heather Coombs 5, Joakim Dillner 6, Roxana Merino-Martinez
Publié dans: New Biotechnology, Numéro 25 (77), 2023, Page(s) 12-19, ISSN 1871-6784
Éditeur: Elsevier BV
DOI: 10.1016/j.nbt.2023.06.001

Explainability and causability in digital pathology

Auteurs: Markus Plass, 1 Michaela Kargl, 1 Tim‐Rasmus Kiehl, 2 Peter Regitnig, 1 Christian Geißler, 3 Theodore Evans, 3 Norman Zerbe, 2 Rita Carvalho, 2 Andreas Holzinger, 1 , 4 and Heimo Müller
Publié dans: Journal of Pathology: Clinical Research, Numéro 4 (9), 2023, Page(s) 251-260, ISSN 2056-4538
Éditeur: The Pathological Society and Wiley
DOI: 10.1002/cjp2.322

Understanding and explaining diagnostic paths: Towards augmented decision making

Auteurs: Markus Plass; Michaela Kargl; Patrick Nitsche; Emilian Jungwirth; Andreas Holzinger; Heimo Müller
Publié dans: IEEE Computer Graphics and Applications, Numéro 6 (42), 2022, Page(s) 47-57, ISSN 2169-3536
Éditeur: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/mcg.2022.3197957

A Literature Review on Ethics for AI in Biomedical Research and Biobanking

Auteurs: Michaela Kargl 1, Markus Plass 1, Heimo Müller 1
Publié dans: Yearbook of Medical Information, Numéro 1 (31), 2022, Page(s) 152-160, ISSN 2364-0502
Éditeur: IMIA
DOI: 10.1055/s-0042-1742516

Selective Destabilization of Transcripts by mRNA Decapping Regulates Oocyte Maturation and Innate Immunity Gene Expression during Ageing in C. elegans

Auteurs: Fivos Borbolis 1,† , Dimitra Ranti 1,‡ , Maria-Despina Papadopoulou 1 , Sofia Dimopoulou, Apostolos Malatras 2,§ , Ioannis Michalopoulos 2,* and Popi Syntichaki
Publié dans: Biology , Numéro 2(12), 2023, Page(s) 1-20, ISSN 2079-7737
Éditeur: MDPI
DOI: 10.3390/biology12020171

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Auteurs: Despina Hadjipanagi 1 2, Gregory Papagregoriou 1, Constantina Koutsofti 1 2, Christiana Polydorou 1, Polichronis Alivanis 3, Aimilios Andrikos 4, Stalo Christodoulidou 5, Manthos Dardamanis 6, Athanasios A Diamantopoulos 7, Anastasios Fountoglou 8, Eleni Frangou 9 10, Eleni Georgaki 11, Ioannis Giannikouris 12, Velissarios Gkinis 13, Pavlos C Goudas 14, Rigas G Kalaitzidis 15, Nikolaos Kaperonis 1
Publié dans: Genes, Numéro 3(12), 2022, Page(s) 1-22, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes13122203

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Auteurs: Claire Palles 1, Hannah D West 2, Edward Chew 3, Sara Galavotti 1, Christoffer Flensburg 3, Judith E Grolleman 4, Erik A M Jansen 4, Helen Curley 1, Laura Chegwidden 1, Edward H Arbe-Barnes 5, Nicola Lander 2, Rebekah Truscott 2, Judith Pagan 6, Ashish Bajel 7, Kitty Sherwood 8, Lynn Martin 1, Huw Thomas 9, Demetra Georgiou 10, Florentia Fostira 11, Yael Goldberg 12, David J Adams 13, Simone A M v
Publié dans: The American Journal of Human Genetics, Numéro 5 (109), 2022, Page(s) 953-960, ISSN 1434-5161
Éditeur: Springer Verlag
DOI: 10.1016/j.ajhg.2022.03.018

Personas for Artificial Intelligence (AI) An Open Source Toolbox

Auteurs: Andreas Holzinger; Michaela Kargl; Bettina Kipperer; Peter Regitnig; Markus Plass; Heimo Müller
Publié dans: IEEE Access, Numéro 1 (10), 2022, Page(s) 23732-37, ISSN 2169-3536
Éditeur: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/access.2022.3154776

Consensus statement on standards and guidelines for the moleculardiagnostics of Alport syndrome: refining the ACMG criteria

Auteurs: Judy Savige 1, Helen Storey 2 , Elizabeth Watson3 ● Jens Michael Hertz4 ● Constantinos Deltas 5 Alessandra Renieri 6 ● Francesca Mari7 ● Pascale Hilbert 7 ● Pavlina Plevova8 ● Peter Byers9 ● Agne Cerkauskaite10 ● Martin Gregory11 ● Rimante Cerkauskiene12 ● Danica Galesic Ljubanovic13 ● Francesca Becherucci14 ● Carmela Errichiello14 ● Laura Massella15 ● Valeria Aiello16
Publié dans: European Journal of Human Genetics, Numéro 29, 2021, Page(s) 1186–1197, ISSN 1476-5438
Éditeur: Springer Nature
DOI: 10.1038/s41431-021-00858-1

Paediatric biobanking for health: The ethical, legal, and societal landscape

Auteurs: Sara Casati, Bridget Ellul, Michaela Th. Mayrhofer, Marialuisa Lavitrano, Elodie Caboux and Zisis Kozlakidis
Publié dans: Frontiers in Public Health, Numéro 1 (10), 2022, Page(s) 1-18, ISSN 2296-2565
Éditeur: Frontiers Media SA
DOI: 10.3389/fpubh.2022.917615

Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field

Auteurs: Apostolos Malatras, Stephanie Duguez & William Duddy
Publié dans: Skeletal Muscle, Numéro 1 (9), 2019, Page(s) 1-12, ISSN 2044-5040
Éditeur: BioMed Central
DOI: 10.1186/s13395-019-0196-z

Toward Human-AI Interfaces to Support Explainability and Causability in Medical AI

Auteurs: Andreas Holzinger, Medical University Graz Heimo Müller, Medical University Graz
Publié dans: IEEE Access, Numéro 1 (10), 2021, Page(s) 78-86, ISSN 2169-3536
Éditeur: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/mc.2021.3092610

Mitral Valve Prolapse and out-of-hospital cardiac arrest: A case report and literature review.

Auteurs: Antonis Ioannou, Marios Ioannides, Christos Eftychiou, Theodoros Christophides, Antonis Pitsis, Constantina Koutsofti, Christiana Polydorou, Gerogory Papageorgiou, Constantinos Deltas, Panagiotis Avraamides
Publié dans: Annals of Clinical Case Reports, Numéro 7 (2130), 2021, Page(s) 1-6, ISSN 2474-1655
Éditeur: Remedy Publications LLC
DOI: 10.22541/au.163448201.18664469/v1

Gene coexpression analysis in Arabidopsis thaliana based on public microarray data

Auteurs: Vasileios L Zogopoulos 1, Apostolos Malatras 2, Ioannis Michalopoulos 1
Publié dans: iScience, Numéro 10 (30), 2022, Page(s) 102848, ISSN 2666-1667
Éditeur: Cell Press
DOI: 10.1016/j.xpro.2022.101208

HGCA2.0: An RNA-Seq based webtool for gene coexpression analysis in Homo sapiens

Auteurs: Vasileios L Zogopoulos 1 2, Apostolos Malatras 3, Konstantinos Kyriakidis 1 4, Chrysanthi Charalampous 5, Evanthia A Makrygianni 6, Stéphanie Duguez 7, Marianna A Koutsi 5, Marialena Pouliou 5, Christos Vasileiou 1 8, William J Duddy 7, Marios Agelopoulos 5, George P Chrousos 6, Vassiliki A Iconomidou 2, Ioannis Michalopoulos
Publié dans: Bioinformatics and Cells, Numéro 3 (12), 2023, Page(s) 1-36, ISSN 2073-4409
Éditeur: MDPI
DOI: 10.3390/cells12030388

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

Auteurs: Christoforos Odiatis, Isavella Savva, MyrtaniPieri, PavlosIoannou, PetrosPetrou, GregoryPapagregoriou, KyriakiAntoniadou, NeoklisMakrides, CharalambosStefanou, Danica Galeši, Ljubanović,GeorgiosNikolaou, Dorin-BogdanBorza, KostasStylianou, OliverGrossi, ConstantinosDeltas
Publié dans: Matrix Biology Plus, Numéro 9 (30), 2021, Page(s) 1451-1458, ISSN 2590-0285
Éditeur: Elsevier
DOI: 10.1016/j.mbplus.2020.100053

Circulating IgG Levels in SARS-CoV-2 Convalescent Individuals in Cyprus

Auteurs: Ioannis Mamais 1, Apostolos Malatras 2, Gregory Papagregoriou 2, Natasa Giallourou 2, Andrea C Kakouri 2, Peter Karayiannis 3, Maria Koliou 4, Eirini Christaki 4, Georgios K Nikolopoulos 2 4, Constantinos Deltas 2
Publié dans: Journal of Clinical Medicine, 2021, ISSN 2077-0383
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm10245882

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Auteurs: Eric Olinger 1, Patrick Hofmann 2, Kendrah Kidd 3, Inès Dufour 4, Hendrica Belge 5, Céline Schaeffer 6, Anne Kipp 7, Olivier Bonny 8, Constantinos Deltas 9, Nathalie Demoulin 10, Thomas Fehr 11, Daniel G Fuster 12, Daniel P Gale 13, Eric Goffin 10, Kateřina Hodaňová 14, Uyen Huynh-Do 12, Andreas Kistler 15, Johann Morelle 10, Gregory Papagregoriou 9, Yves Pirson 16, Richard Sandford 17, John
Publié dans: Kidney International, Numéro 20 (253), 2020, Page(s) 717-731, ISSN 2468-0249
Éditeur: Elsevier BV
DOI: 10.1016/j.kint.2020.04.038

Approaches in Gene Coexpression Analysis in Eukaryotes

Auteurs: Vasileios L. Zogopoulos,1,2 Georgia Saxami,1,3 Apostolos Malatras,4 Konstantinos Papadopoulos,1,2 Ioanna Tsotra,1,2 Vassiliki A. Iconomidou,2 and Ioannis Michalopoulos1,*
Publié dans: Biology MDPI, Numéro 7 (11), 2023, Page(s) 1-31, ISSN 2079-7737
Éditeur: MDPI
DOI: 10.3390/biology11071019

Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review

Auteurs: Andreas Matthaiou,1 Tsielestina Poulli,1 and Constantinos Deltas2
Publié dans: Clin Kidney Journal, Numéro 6 (13), 2020, Page(s) 1025–1036, ISSN 2048-8513
Éditeur: Oxford Academic
DOI: 10.1093/ckj/sfz176

D2B-Functionalized Gold Nanoparticles: Promising Vehicles for Targeted Drug Delivery to Prostate Cancer

Auteurs: Monira Sarkis, Georges Minassian, Nadim Mitri, Kamil Rahme, Giulio Fracasso*, Roland El Hage, and Esther Ghanem
Publié dans: ACS Appl Bio Mater, Numéro 2 (6), 2023, Page(s) 819-827, ISSN 2576-6422
Éditeur: ACS Publications
DOI: 10.1021/acsabm.2c00975

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

Auteurs: Moran Dvela-Levitt 1, Maria Kost-Alimova 2, Maheswarareddy Emani 1, Eva Kohnert 1, Rebecca Thompson 1, Eriene-Heidi Sidhom 1, Ana Rivadeneira 1, Nareh Sahakian 1, Julie Roignot 1, Gregory Papagregoriou 3, Monica S Montesinos 1, Abbe R Clark 1, David McKinney 2, Juan Gutierrez 2, Mark Roth 2, Lucienne Ronco 2, Esther Elonga 2, Todd A Carter 2, Andreas Gnirke 2, Michelle Melanson 2, Kate Hartland 2,
Publié dans: Cell, Numéro 3 (178), 2019, Page(s) 521-535, ISSN 1097-4172
Éditeur: Elsevier
DOI: 10.1016/j.cell.2019.07.002

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Auteurs: Martina Živná 1, Kendrah Kidd 2, Mohamad Zaidan 3, Petr Vyleťal 1, Veronika Barešová 1, Kateřina Hodaňová 1, Jana Sovová 1, Hana Hartmannová 1, Miroslav Votruba 1, Helena Trešlová 1, Ivana Jedličková 1, Jakub Sikora 1, Helena Hůlková 1, Victoria Robins 4, Aleš Hnízda 5, Jan Živný 6, Gregory Papagregoriou 7, Laurent Mesnard 8, Bodo B Beck 9, Andrea Wenzel 9, Kálmán Tory 10, Ka
Publié dans: Kidney International, Numéro 6 (98), 2020, Page(s) 1589-1604, ISSN 2468-0249
Éditeur: Elsevier BV
DOI: 10.1016/j.kint.2020.06.041

Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens' Engagement in Research Through eHealthBioR

Auteurs: Athos Antoniades, Maria Papaioannou, Apostolos Malatras, Gregory Papagregoriou, Heimo Müller, Petr Holub, Constantinos Deltas, Christos N. Schizas
Publié dans: Frontiers in Digital Health, Numéro 3, 2021, ISSN 2673-253X
Éditeur: Frontiers
DOI: 10.3389/fdgth.2021.628646

Dynamic monitoring of PD-L1 and Ki67 in circulating tumor cells of metastatic non-small cell lung cancer patients treated with pembrolizumab

Auteurs: Maria Spiliotaki 1 2, Christiana Michael Neophytou 3, Paris Vogazianos 4, Ioannis Stylianou 5, Gregoria Gregoriou 1, Andreas Ioannou Constantinou 1, Constantinos Deltas 2 6, Haris Charalambous
Publié dans: mMol. Oncol., Numéro 5 (17), 2023, Page(s) 792-809, ISSN 2372-3556
Éditeur: FEBS
DOI: 10.1002/1878-0261.13317

Thin basement membrane lesion is not only a collagen IV nephropathy: do not underestimate “decorative” additions to collagens

Auteurs: Constantinos Deltas
Publié dans: Kindeny International, Numéro 6 (102), 2022, Page(s) 1203-1205, ISSN 2468-0249
Éditeur: Elsevier
DOI: 10.1016/j.kint.2022.08.014

Genomic Classifiers in Personalized Prostate Cancer Radiation Therapy Approaches: A Systematic Review and Future Perspectives Based on International Consensus

Auteurs: Simon K.B. Spohn, MD Cédric Draulans, MD Amar U. Kishan, MD Daniel Spratt, MD Ashley Ross, MD, PhD Tobias Maurer, MD Derya Tilki, MD Alejandro Berlin, MD Pierre Blanchard, MD, PhD Sean Collins, MD Peter Bronsert, MD Ronald Chen, MD, PhD Alan Dal Pra, MD Gert de Meerleer, MD Thomas Eade, MD Karin Haustermans, MD Tobias Hölscher, MD Stefan Höcht, MD Pirus Ghadjar, MD Elai Davicioni, PhD Matthias
Publié dans: International Journal of Radiation Oncology, Numéro 3 (116), 2023, Page(s) 503-520, ISSN 0360-3016
Éditeur: Elsevier BV
DOI: 10.1016/j.ijrobp.2022.12.038

Optimized Molecular Interaction Networks for the Study of Skeletal Muscle

Auteurs: Morgan, Stephena | Malatras, Apostolosb | Duguez, Stephaniea | Duddy, Williama
Publié dans: Journal of Neuromuscular Diseases, Numéro 1 (8), 2021, Page(s) 1-10, ISSN 2044-5040
Éditeur: BioMed Central
DOI: 10.3233/jnd-210680

Explainability and Causability for Artificial Intelligence-Supported Medical Image Analysis in the Context of the European In Vitro Diagnostics Regulation

Auteurs: Heimo Müller 1, Andreas Holzinger 2, Markus Plass 1, Luka Brcic 1, Cornelia Stumptner 1, Kurt Zatloukal 3
Publié dans: New Biotechnology, Numéro 1 (70), 2022, Page(s) 67-72, ISSN 1871-6784
Éditeur: Elsevier BV
DOI: 10.1016/j.nbt.2022.05.002

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Auteurs: Constantinos Deltas,Gregory Papagregoriou 2,Stavroula F. Louka,Apostolos Malatras,Frances Flinter 3,Daniel P. Gale 4,Susie Gear 5,Oliver Gross,Julia Hoefele 7,Rachel Lennon 8,Jeffrey H. Miner 9,Alessandra Renieri,Judy Savige and A. Neil Turner
Publié dans: Genes, Numéro 14 (9), 2023, Page(s) 1-18, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes14091686

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

Auteurs: Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite & Judy Savige
Publié dans: Scientific Reports, Numéro 2722, 2022, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-022-06525-9

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

Auteurs: Aleksandra M.Żurowska Olga Bielska PatrycjaDaca-Roszak3MaciejJankowski4MariaSzczepańska5DagmaraRoszkowska-Bjanid6ElżbietaKuźma-Mroczkowska721MałgorzataPańczyk-Tomaszewska7AnnaMoczulska8DorotaDrożdż8DespinaHadjipanagi9ConstantinosDeltas9DanutaOstalska-Nowicka10AlinaRabiega10JaninaTaraszkiewicz11KatarzynaTaranta-Janusz12AnnaWieczorkiewicz-Plaza13KatarzynaJobs14…Beata S.Lipska-Ziętkiewicz
Publié dans: Kidney International, Numéro Volume 99, Numéro 6, 2021, Page(s) 1451-1458, ISSN 2157-1716
Éditeur: Elsevier
DOI: 10.1016/j.kint.2020.10.040

POS-435 NEXT GENERATION SEQUENCING IDENTIFIES CANDIDATE GENETIC MODIFIERS POTENTIALLY EXACERBATING KIDNEY DISEASE IN COL4A3/A4 HETEROZYGOUS PATIENTS

Auteurs: Deltas, C
Publié dans: Kidney International Reports, Numéro VOLUME 7, ISSUE 2, 2021, ISSN 0085-2538
Éditeur: Blackwell Publishing Inc.
DOI: 10.1016/j.ekir.2022.01.462

The 2019 and 2021 International Workshops on Alport Syndrome

Auteurs: Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeff H. Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B. Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A. Neil Turner, Margherita Bal
Publié dans: European Journal of Human Genetics, Numéro 30, 2022, Page(s) 507–516, ISSN 1476-5438
Éditeur: Nature
DOI: 10.1038/ejhg.2014.254

Precision Medicine Approaches with Metabolomics andArtificial Intelligence

Auteurs: Elettra Barberis, Shahzaib Khoso 1,2,†,Antonio Sica 3,Marco Falasca ,Alessandra Gennari, Francesco Dondero, Antreas Afantitis andMarcello Manfredi
Publié dans: International Journal of Molecular Sciences, Numéro 19 (23), 2022, Page(s) 1-17, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms231911269

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