Works by Ryten, Mina

Results: 84
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    CoExp: A Web Tool for the Exploitation of Co-expression Networks.

    Published in:
    Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.630187
    By:
    • García-Ruiz, Sonia;
    • Gil-Martínez, Ana L.;
    • Cisterna, Alejandro;
    • Jurado-Ruiz, Federico;
    • Reynolds, Regina H.;
    • Cookson, Mark R.;
    • Hardy, John;
    • Ryten, Mina;
    • Botía, Juan A.
    Publication type:
    Article
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    Gene expression changes with age in skin, adipose tissue, blood and brain.

    Published in:
    Genome Biology, 2013, v. 14, n. 7, p. R75, doi. 10.1186/gb-2013-14-7-r75
    By:
    • Glass, Daniel;
    • Viñuela, Ana;
    • Davies, Matthew N;
    • Ramasamy, Adaikalavan;
    • Parts, Leopold;
    • Knowles, David;
    • Brown, Andrew A;
    • Hedman, Åsa K;
    • Small, Kerrin S;
    • Buil, Alfonso;
    • Grundberg, Elin;
    • Nica, Alexandra C;
    • Nestle, Frank O;
    • Ryten, Mina;
    • the UK Brain Expression consortium;
    • the MuTHER consortium;
    • Durbin, Richard;
    • McCarthy, Mark I;
    • Deloukas, Panagiotis;
    • Dermitzakis, Emmanouil T
    Publication type:
    Article
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    Investigation of the genetic aetiology of Lewy body diseases with and without dementia.

    Published in:
    Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae190
    By:
    • Wu, Lesley Yue;
    • Real, Raquel;
    • Martinez-Carrasco, Alejandro;
    • Chia, Ruth;
    • Lawton, Michael A;
    • Shoai, Maryam;
    • Bresner, Catherine;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B;
    • Ryten, Mina;
    • Consortium, International Lewy Body Dementia Genomics;
    • Scholz, Sonja W;
    • Traynor, Bryan J;
    • Williams, Nigel M;
    • Hu, Michele T M;
    • Ben-Shlomo, Yoav;
    • Grosset, Donald G;
    • Hardy, John;
    • Morris, Huw R
    Publication type:
    Article
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    Antisense oligonucleotide–mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC–derived striatal neurons.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 785, p. 1, doi. 10.1126/scitranslmed.adn4600
    By:
    • Bunting, Emma L.;
    • Donaldson, Jasmine;
    • Cumming, Sarah A.;
    • Olive, Jessica;
    • Broom, Elizabeth;
    • Miclăuș, Mihai;
    • Hamilton, Joseph;
    • Tegtmeyer, Matthew;
    • Zhao, Hien T.;
    • Brenton, Jonathan;
    • Lee, Won-Seok;
    • Handsaker, Robert E.;
    • Li, Susan;
    • Ford, Brittany;
    • Ryten, Mina;
    • McCarroll, Steven A.;
    • Kordasiewicz, Holly B.;
    • Monckton, Darren G.;
    • Balmus, Gabriel;
    • Flower, Michael
    Publication type:
    Article
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    Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq.

    Published in:
    Nature Biotechnology, 2025, v. 43, n. 4, p. 635, doi. 10.1038/s41587-024-02245-9
    By:
    • Aguzzoli Heberle, Bernardo;
    • Brandon, J. Anthony;
    • Page, Madeline L.;
    • Nations, Kayla A.;
    • Dikobe, Ketsile I.;
    • White, Brendan J.;
    • Gordon, Lacey A.;
    • Fox, Grant A.;
    • Wadsworth, Mark E.;
    • Doyle, Patricia H.;
    • Williams, Brittney A.;
    • Fox, Edward J.;
    • Shantaraman, Anantharaman;
    • Ryten, Mina;
    • Goodwin, Sara;
    • Ghiban, Elena;
    • Wappel, Robert;
    • Mavruk-Eskipehlivan, Senem;
    • Miller, Justin B.;
    • Seyfried, Nicholas T.
    Publication type:
    Article
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    Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Grenn, Francis P.;
    • Malik, Laksh;
    • Miano-Burkhardt, Abigail;
    • Makarious, Mary B.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Moore, Anni;
    • Reed, Xylena;
    • Nalls, Mike A.;
    • Shah, Syed;
    • Mahmoud, Medhat;
    • Sedlazeck, Fritz J.;
    • Dolzhenko, Egor;
    • Park, Morgan;
    • Iwaki, Hirotaka;
    • Casey, Bradford;
    • Ryten, Mina;
    • Blauwendraat, Cornelis
    Publication type:
    Article
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    Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer’s disease mouse models.

    Published in:
    Science Translational Medicine, 2015, v. 7, n. 309, p. 1, doi. 10.1126/scitranslmed.aab3492
    By:
    • Yunhong Huang;
    • Skwarek-Maruszewska, Aneta;
    • Horré, Katrien;
    • Vandewyer, Elke;
    • Wolfs, Leen;
    • Snellinx, An;
    • Takashi Saito;
    • Radaelli, Enrico;
    • Corthout, Nikky;
    • Colombelli, Julien;
    • Lo, Adrian C.;
    • Van Aerschot, Leen;
    • Callaerts-Vegh, Zsuzsanna;
    • Trabzuni, Daniah;
    • Bossers, Koen;
    • Verhaagen, Joost;
    • Ryten, Mina;
    • Munck, Sebastian;
    • D’Hooge, Rudi;
    • Swaab, Dick F.
    Publication type:
    Article
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    Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

    Published in:
    Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
    By:
    • Sousa, Sérgio B;
    • Jenkins, Dagan;
    • Chanudet, Estelle;
    • Tasseva, Guergana;
    • Ishida, Miho;
    • Anderson, Glenn;
    • Docker, James;
    • Ryten, Mina;
    • Sa, Joaquim;
    • Saraiva, Jorge M;
    • Barnicoat, Angela;
    • Scott, Richard;
    • Calder, Alistair;
    • Wattanasirichaigoon, Duangrurdee;
    • Chrzanowska, Krystyna;
    • Simandlová, Martina;
    • Van Maldergem, Lionel;
    • Stanier, Philip;
    • Beales, Philip L;
    • Vance, Jean E
    Publication type:
    Article
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    Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

    Published in:
    Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
    By:
    • Martinelli, Simone;
    • Pannone, Luca;
    • Lissewski, Christina;
    • Brinkmann, Julia;
    • Flex, Elisabetta;
    • Schanze, Denny;
    • Calligari, Paolo;
    • Anselmi, Massimiliano;
    • Pantaleoni, Francesca;
    • Canale, Viviana Claudia;
    • Radio, Francesca Clementina;
    • Ioannides, Adonis;
    • Rahner, Nils;
    • Schanze, Ina;
    • Josifova, Dragana;
    • Bocchinfuso, Gianfranco;
    • Ryten, Mina;
    • Stella, Lorenzo;
    • Tartaglia, Marco;
    • Zenker, Martin
    Publication type:
    Article
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    A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
    By:
    • Salpietro, Vincenzo;
    • Efthymiou, Stephanie;
    • Manole, Andreea;
    • Maurya, Bhawana;
    • Wiethoff, Sarah;
    • Ashokkumar, Balasubramaniem;
    • Cutrupi, Maria Concetta;
    • Dipasquale, Valeria;
    • Manti, Sara;
    • Botia, Juan A.;
    • Ryten, Mina;
    • Vandrovcova, Jana;
    • Bello, Oscar D.;
    • Bettencourt, Conceicao;
    • Mankad, Kshitij;
    • Mukherjee, Ashim;
    • Mutsuddi, Mousumi;
    • Houlden, Henry
    Publication type:
    Article
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    Age‐related telomere attrition in the human putamen.

    Published in:
    Aging Cell, 2023, v. 22, n. 7, p. 1, doi. 10.1111/acel.13861
    By:
    • Schreglmann, Sebastian R.;
    • Goncalves, Tomas;
    • Grant‐Peters, Melissa;
    • Kia, Demis A.;
    • Soreq, Lilach;
    • Ryten, Mina;
    • Wood, Nicholas W.;
    • Bhatia, Kailash P.;
    • Tomita, Kazunori
    Publication type:
    Article
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    IntroVerse: a comprehensive database of introns across human tissues.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D167, doi. 10.1093/nar/gkac1056
    By:
    • García-Ruiz, Sonia;
    • Gustavsson, Emil K;
    • Zhang, David;
    • Reynolds, Regina H;
    • Chen, Zhongbo;
    • Fairbrother-Browne, Aine;
    • Gil-Martínez, Ana Luisa;
    • Botia, Juan A;
    • Collado-Torres, Leonardo;
    • Ryten, Mina
    Publication type:
    Article
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    Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis.

    Published in:
    Journal of Neurochemistry, 2012, v. 122, n. 4, p. 738, doi. 10.1111/j.1471-4159.2012.07825.x
    By:
    • Patani, Rickie;
    • Lewis, Patrick A.;
    • Trabzuni, Daniah;
    • Puddifoot, Clare A.;
    • Wyllie, David J. A.;
    • Walker, Robert;
    • Smith, Colin;
    • Hardingham, Giles E.;
    • Weale, Michael;
    • Hardy, John;
    • Chandran, Siddharthan;
    • Ryten, Mina
    Publication type:
    Article
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    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
    By:
    • Trabzuni, Daniah;
    • Wray, Selina;
    • Vandrovcova, Jana;
    • Ramasamy, Adaikalavan;
    • Walker, Robert;
    • Smith, Colin;
    • Luk, Connie;
    • Gibbs, J. Raphael;
    • Dillman, Allissa;
    • Hernandez, Dena G.;
    • Arepalli, Sampath;
    • Singleton, Andrew B.;
    • Cookson, Mark R.;
    • Pittman, Alan M.;
    • de Silva, Rohan;
    • Weale, Michael E.;
    • Hardy, John;
    • Ryten, Mina
    Publication type:
    Article
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    The ENIGMA‐Epilepsy working group: Mapping disease from large data sets.

    Published in:
    Human Brain Mapping, 2022, v. 43, n. 1, p. 113, doi. 10.1002/hbm.25037
    By:
    • Sisodiya, Sanjay M.;
    • Whelan, Christopher D.;
    • Hatton, Sean N.;
    • Huynh, Khoa;
    • Altmann, Andre;
    • Ryten, Mina;
    • Vezzani, Annamaria;
    • Caligiuri, Maria Eugenia;
    • Labate, Angelo;
    • Gambardella, Antonio;
    • Ives‐Deliperi, Victoria;
    • Meletti, Stefano;
    • Munsell, Brent C.;
    • Bonilha, Leonardo;
    • Tondelli, Manuela;
    • Rebsamen, Michael;
    • Rummel, Christian;
    • Vaudano, Anna Elisabetta;
    • Wiest, Roland;
    • Balachandra, Akshara R.
    Publication type:
    Article
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    Genome‐Wide Analysis of Structural Variants in Parkinson Disease.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
    By:
    • Billingsley, Kimberley J.;
    • Ding, Jinhui;
    • Jerez, Pilar Alvarez;
    • Illarionova, Anastasia;
    • Levine, Kristin;
    • Grenn, Francis P.;
    • Makarious, Mary B.;
    • Moore, Anni;
    • Vitale, Daniel;
    • Reed, Xylena;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Chia, Ruth;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko
    Publication type:
    Article
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    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    Published in:
    2019
    By:
    • Chelban, Viorica;
    • Wilson, Matthew P.;
    • Warman Chardon, Jodi;
    • Vandrovcova, Jana;
    • Zanetti, M. Natalia;
    • Zamba‐Papanicolaou, Eleni;
    • Efthymiou, Stephanie;
    • Pope, Simon;
    • Conte, Maria R.;
    • Abis, Giancarlo;
    • Liu, Yo‐Tsen;
    • Tribollet, Eloise;
    • Haridy, Nourelhoda A.;
    • Botía, Juan A.;
    • Ryten, Mina;
    • Nicolaou, Paschalis;
    • Minaidou, Anna;
    • Christodoulou, Kyproula;
    • Kernohan, Kristin D.;
    • Eaton, Alison
    Publication type:
    journal article
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    Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    2013
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E;
    • Davis, Mary;
    • Macdonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P;
    • Medlar, Alan J;
    • Stanescu, Horia C;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W;
    • Houlden, Henry
    Publication type:
    journal article
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    Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E.;
    • Davis, Mary;
    • MacDonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P.;
    • Medlar, Alan J.;
    • Stanescu, Horia C.;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article
    39

    eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

    Published in:
    PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010932
    By:
    • Kerimov, Nurlan;
    • Tambets, Ralf;
    • Hayhurst, James D.;
    • Rahu, Ida;
    • Kolberg, Peep;
    • Raudvere, Uku;
    • Kuzmin, Ivan;
    • Chowdhary, Anshika;
    • Vija, Andreas;
    • Teras, Hans J.;
    • Kanai, Masahiro;
    • Ulirsch, Jacob;
    • Ryten, Mina;
    • Hardy, John;
    • Guelfi, Sebastian;
    • Trabzuni, Daniah;
    • Kim-Hellmuth, Sarah;
    • Rayner, William;
    • Finucane, Hilary;
    • Peterson, Hedi
    Publication type:
    Article
    40

    Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

    Published in:
    NPJ Parkinson's Disease, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41531-019-0080-x
    By:
    • Billingsley, Kimberley J.;
    • Barbosa, Ines A.;
    • Bandrés-Ciga, Sara;
    • Quinn, John P.;
    • Bubb, Vivien J.;
    • Deshpande, Charu;
    • Botia, Juan A.;
    • Reynolds, Regina H.;
    • Zhang, David;
    • Simpson, Michael A.;
    • Blauwendraat, Cornelis;
    • Gan-Or, Ziv;
    • Gibbs, J. Raphael;
    • Nalls, Mike A.;
    • Singleton, Andrew;
    • Ryten, Mina;
    • Koks, Sulev
    Publication type:
    Article
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    Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
    By:
    • Lobanov, Sergey V.;
    • McAllister, Branduff;
    • McDade-Kumar, Mia;
    • Landwehrmeyer, G. Bernhard;
    • Orth, Michael;
    • Rosser, Anne E.;
    • REGISTRY Investigators of the European Huntington's disease network;
    • Paulsen, Jane S.;
    • PREDICT-HD Investigators of the Huntington Study Group;
    • Lee, Jong-Min;
    • MacDonald, Marcy E.;
    • Gusella, James F.;
    • Long, Jeffrey D.;
    • Ryten, Mina;
    • Williams, Nigel M.;
    • Holmans, Peter;
    • Massey, Thomas H.;
    • Jones, Lesley
    Publication type:
    Article
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    Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1147-9
    By:
    • Jansen, Iris E.;
    • Hui Ye;
    • Heetveld, Sasja;
    • Lechler, Marie C.;
    • Michels, Helen;
    • Seinstra, Renée I.;
    • Lubbe, Steven J.;
    • Drouet, Valérie;
    • Lesage, Suzanne;
    • Majounie, Elisa;
    • Gibbs, J. Raphael;
    • Nalls, Mike A.;
    • Ryten, Mina;
    • Botia, Juan A.;
    • Vandrovcova, Jana;
    • Simon-Sanchez, Javier;
    • Castillo-Lizardo, Melissa;
    • Rizzu, Patrizia;
    • Blauwendraat, Cornelis;
    • Chouhan, Amit K.
    Publication type:
    Article
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    Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

    Published in:
    Nature, 2014, v. 505, n. 7484, p. 550, doi. 10.1038/nature12825
    By:
    • Cruchaga, Carlos;
    • Karch, Celeste M.;
    • Jin, Sheng Chih;
    • Benitez, Bruno A.;
    • Cai, Yefei;
    • Guerreiro, Rita;
    • Harari, Oscar;
    • Norton, Joanne;
    • Budde, John;
    • Bertelsen, Sarah;
    • Jeng, Amanda T.;
    • Cooper, Breanna;
    • Skorupa, Tara;
    • Carrell, David;
    • Levitch, Denise;
    • Hsu, Simon;
    • Choi, Jiyoon;
    • Ryten, Mina;
    • Hardy, John;
    • Trabzuni, Daniah
    Publication type:
    Article
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