{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:14:12Z","timestamp":1782962052067,"version":"3.54.5"},"reference-count":47,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T00:00:00Z","timestamp":1626739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005039","name":"Leids Universitair Medisch Centrum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005039","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR\u201017.13, W.OR\u201019.13"],"award-info":[{"award-number":["W.OR\u201017.13, W.OR\u201019.13"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["024.004.012"],"award-info":[{"award-number":["024.004.012"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J of Neuroscience"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Myasthenia gravis (MG) is an acquired autoimmune disorder caused by autoantibodies binding acetylcholine receptors (AChR), muscle\u2010specific kinase (MuSK), agrin or low\u2010density lipoprotein receptor\u2010related protein 4 (Lrp4). These autoantibodies inhibit neuromuscular transmission by blocking the function of these proteins and thereby cause fluctuating skeletal muscle weakness. Several reports suggest that these autoantibodies might also affect the central nervous system (CNS) in MG patients. A comprehensive overview of the timing and localization of the expression of MG\u2010related antigens in other organs is currently lacking. To investigate the spatio\u2010temporal expression of MG\u2010related genes outside skeletal muscle, we used\n                    <jats:italic>in silico<\/jats:italic>\n                    tools to assess public expression databases. Acetylcholine esterase, nicotinic AChR \u03b11 subunit, agrin, collagen Q, downstream of kinase\u20107, Lrp4, MuSK and rapsyn were included as MG\u2010related genes because of their well\u2010known involvement in either congenital or autoimmune MG. We investigated expression of MG\u2010related genes in (1) all human tissues using GTEx data, (2) specific brain regions, (3) neurodevelopmental stages, and (4) cell types using datasets from the Allen Institute for Brain Sciences. MG\u2010related genes show heterogenous spatio\u2010temporal expression patterns in the human body as well as in the CNS. For each of these genes, several (new) tissues, brain areas and cortical cell types with (relatively) high expression were identified suggesting a potential role for these genes outside skeletal muscle. The possible presence of MG\u2010related antigens outside skeletal muscle suggests that autoimmune MG, congenital MG or treatments targeting the same proteins may affect MG\u2010related protein function in other organs.\n                  <\/jats:p>","DOI":"10.1111\/ejn.15382","type":"journal-article","created":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T12:59:49Z","timestamp":1625576389000},"page":"5574-5585","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Timing and localization of myasthenia gravis\u2010related gene expression"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7268-9818","authenticated-orcid":false,"given":"Dana L. E.","family":"Vergoossen","sequence":"first","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7501-1033","authenticated-orcid":false,"given":"Arlin","family":"Keo","sequence":"additional","affiliation":[{"name":"Leiden Computational Biology Center Leiden University Medical Center  Leiden The Netherlands"},{"name":"Delft Bioinformatics Lab Delft University of Technology  Delft The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8601-2149","authenticated-orcid":false,"given":"Ahmed","family":"Mahfouz","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  Leiden The Netherlands"},{"name":"Leiden Computational Biology Center Leiden University Medical Center  Leiden The Netherlands"},{"name":"Delft Bioinformatics Lab Delft University of Technology  Delft The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6082-5042","authenticated-orcid":false,"given":"Maartje G.","family":"Huijbers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  Leiden The Netherlands"},{"name":"Department of Neurology Leiden University Medical Center  Leiden The 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