CLN3 transcript complexity revealed by long-read RNA sequencing analysis

Authors: Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)

Subject Terms: Juvenile CLN3 disease, Batten disease, Neuronal ceroid lipofuscinoses, CLN3, Transcription, Readthrough gene, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/492e82a243a747a4951570d6952af2f5

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

Authors: Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley

Source: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2373-8057

Access URL: https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7

Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

Authors: Huihui Luo, Emil K. Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska, Kylie Montgomery, Claire Anderson, Wai Yan Yau, Stephanie Efthymiou, Chris Turner, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Tamas Revesz, Tammaryn Lashley, Glenda Halliday, Dominic B. Rowe, Emily McCann, Ian Blair, Andrew J. Lees, Pentti J. Tienari, Anu Suomalainen, Laura Molina-Porcel, Gabor G. Kovacs, Ellen Gelpi, John Hardy, Matti J. Haltia, Arianna Tucci, Zane Jaunmuktane, Mina Ryten, Henry Houlden, Zhongbo Chen

Source: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-6 (2024)

Subject Terms: Neuronal intranuclear inclusion disease, Hornerin, Repeat expansion disorders, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/66ce109f71ec44af9981960c060d30a1

Genetic meta-analysis of levodopa induced dyskinesia in Parkinson’s disease

Authors: Alejandro Martinez-Carrasco, Raquel Real, Michael Lawton, Hirotaka Iwaki, Manuela M. X. Tan, Lesley Wu, Nigel M. Williams, Camille Carroll, Michele T. M. Hu, Donald G. Grosset, John Hardy, Mina Ryten, Tom Foltynie, Yoav Ben-Shlomo, Maryam Shoai, Huw R. Morris

Source: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2373-8057

Access URL: https://doaj.org/article/cec4d30a7b3a4bf787d978b96c439ea7

Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally

Authors: Karishma D’Sa, Sebastian Guelfi, Jana Vandrovcova, Regina H. Reynolds, David Zhang, John Hardy, Juan A. Botía, Michael E. Weale, Sarah A. Gagliano Taliun, Kerrin S. Small, Mina Ryten

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/7814aaf031334f36bd0441a657c5d4ad

Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system

Authors: Frida Lona-Durazo, Regina H. Reynolds, Sonja W. Scholz, Mina Ryten, Sarah A. Gagliano Taliun

Source: Communications Biology, Vol 6, Iss 1, Pp 1-11 (2023)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/e9c2e065cff942fe89191c57486ca827

Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases

Authors: Regina H. Reynolds, Aaron Z. Wagen, Frida Lona-Durazo, Sonja W. Scholz, Maryam Shoai, John Hardy, Sarah A. Gagliano Taliun, Mina Ryten

Source: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-14 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2373-8057

Access URL: https://doaj.org/article/b0e583f1318d4c5b8e09718abb18ca78

Genome‐Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants

Authors: Ahmed Salih, Maddalena Ardissino, Aaron Z. Wagen, Andrew Bard, Liliana Szabo, Mina Ryten, Steffen E. Petersen, André Altmann, Zahra Raisi‐Estabragh

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 21 (2023)

Subject Terms: cardiovascular disease, genome‐wide association study, pericardial adipose tissue, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/0d06d3d0f031439f8eccb45add66dc41

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Authors: Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina H. Reynolds, Eric Yu, Konstantin Senkevich, Uladzislau Rudakou, Mehrdad A. Estiar, Emil K. Gustavsson, Kajsa Brolin, Jennifer A. Ruskey, Kathryn Freeman, Farnaz Asayesh, Ruth Chia, Isabelle Arnulf, Michele T. M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Karel Šonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Francesco Biscarini, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, andMe Research Team, Sonja W. Scholz, Mina Ryten, Sara Bandres-Ciga, Alastair Noyce, Paul Cannon, Lasse Pihlstrøm, Mike A. Nalls, Andrew B. Singleton, Guy A. Rouleau, Ronald B. Postuma, Ziv Gan-Or

Source: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/59eca1d6c47b4c98aed465f4c7a60228

PhenoExam: gene set analyses through integration of different phenotype databases

Authors: Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A. Botía

Source: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-19 (2022)

Subject Terms: Phenotype Enrichment Tool, Shiny, Epilepsy, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/43515d62e44a4e99a3d51759ad8602cb

ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R

Authors: Aine Fairbrother-Browne, Sonia García-Ruiz, Regina Hertfelder Reynolds, Mina Ryten, Alan Hodgkinson

Source: GigaByte (2023)

Subject Terms: Electronic computers. Computer science, QA75.5-76.95

File Description: electronic resource

Relation: https://gigabytejournal.com/articles/91; https://doaj.org/toc/2709-4715

Access URL: https://doaj.org/article/12c62369e51a48d69b2135df1e07841b

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

Authors: Nurlan Kerimov, Ralf Tambets, James D Hayhurst, Ida Rahu, Peep Kolberg, Uku Raudvere, Ivan Kuzmin, Anshika Chowdhary, Andreas Vija, Hans J Teras, Masahiro Kanai, Jacob Ulirsch, Mina Ryten, John Hardy, Sebastian Guelfi, Daniah Trabzuni, Sarah Kim-Hellmuth, William Rayner, Hilary Finucane, Hedi Peterson, Abayomi Mosaku, Helen Parkinson, Kaur Alasoo

Source: PLoS Genetics, Vol 19, Iss 9, p e1010932 (2023)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010932&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/4747de12cc9a4815a10050170fc3cf70

aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3

Authors: Sonia García-Ruiz, Regina Hertfelder Reynolds, Melissa Grant-Peters, Emil Karl Gustavsson, Aine Fairbrother-Browne, Zhongbo Chen, Jonathan William Brenton, Mina Ryten

Source: GigaByte (2023)

Subject Terms: Electronic computers. Computer science, QA75.5-76.95

File Description: electronic resource

Relation: https://gigabytejournal.com/articles/87; https://doaj.org/toc/2709-4715

Access URL: https://doaj.org/article/8c578f38e239462c8c9b594f6f273edb

Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

Authors: Sergey V. Lobanov, Branduff McAllister, Mia McDade-Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Jong-Min Lee, Marcy E. MacDonald, James F. Gusella, Jeffrey D. Long, Mina Ryten, Nigel M. Williams, Peter Holmans, Thomas H. Massey, Lesley Jones

Source: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/471abbf3af654a65a0a60f88b8f7af52

Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes

Authors: Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia Garcia-Ruiz, Emmanuel O. Olagbaju, Mina Ryten, Harpreet Saini, Juan A. Botia

Source: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/2e8bb68ea8ef420a96f72aab47116b2e

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Authors: Zhongbo Chen, Regina H. Reynolds, Antonio F. Pardiñas, Sarah A. Gagliano Taliun, Wouter van Rheenen, Kuang Lin, Aleksey Shatunov, Emil K. Gustavsson, Isabella Fogh, Ashley R. Jones, Wim Robberecht, Philippe Corcia, Adriano Chiò, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Vincenzo Silani, John A. Hardy, Henry Houlden, Michael J. Owen, Martin R. Turner, Mina Ryten, Ammar Al-Chalabi

Source: Neurobiology of Disease, Vol 180, Iss , Pp 106082- (2023)

Subject Terms: Neurodegenerative diseases, Alzheimer's disease, Parkinson's disease, Amyotrophic lateral sclerosis, Genetics, Neanderthal, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123000967; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/f01fd2a5dcf3454199658ca3a44ca0e9

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

Authors: Aine Fairbrother-Browne, Aminah T. Ali, Regina H. Reynolds, Sonia Garcia-Ruiz, David Zhang, Zhongbo Chen, Mina Ryten, Alan Hodgkinson

Source: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/d5dd7c062e3448ff913f17a96a81fd0a

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Authors: Zhongbo Chen, David Zhang, Regina H. Reynolds, Emil K. Gustavsson, Sonia García-Ruiz, Karishma D’Sa, Aine Fairbrother-Browne, Jana Vandrovcova, International Parkinson’s Disease Genomics Consortium (IPDGC), John Hardy, Henry Houlden, Sarah A. Gagliano Taliun, Juan Botía, Mina Ryten

Source: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/adb7017084874dddbf672c99a5595752

Neuronal intranuclear inclusion disease is genetically heterogeneous

Authors: Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpi, Gabor G. Kovacs, Glenda Halliday, Dominic B. Rowe, Ian Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas W. Wood, Andrew J. Lees, Matti J. Haltia, Genomics England Research Consortium, John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/bd65c1e21b3a43b093ee1ae9f5b87933

Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases

Authors: Regina H. Reynolds, Aaron Z. Wagen, Frida Lona-Durazo, Sonja W. Scholz, Maryam Shoai, John Hardy, Sarah A. Gagliano Taliun, Mina Ryten

Source: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-1 (2023)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2373-8057

Access URL: https://doaj.org/article/2d9fc6d5119b495b8bffdef40665f386