Genetic variations of immunoregulatory genes associated with Rasmussen syndrome
Highlights • Rasmussen syndrome (RS) had the genetic predisposition in CTLA4 , and PDCD1. • Rs231775 SNP in exon 1 of CTLA4 showed significant associations with RS. • Rs2227982 SNP in exon 5 of PDCD1 showed significant associations with RS. • SNPs of T - bet showed no association with RS.
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| Veröffentlicht in: | Epilepsy research 2013-12, Vol.107 (3), p.238-243 |
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| container_title | Epilepsy research |
| container_volume | 107 |
| creator | Takahashi, Yukitoshi Mogami, Yukiko Mine, June Imai, Katsumi Koide, Yasumichi Matsuda, Kazumi Akasaka, Noriyuki Konishi, Takashi Imamura, Atsushi Inoue, Yushi |
| description | Highlights • Rasmussen syndrome (RS) had the genetic predisposition in CTLA4 , and PDCD1. • Rs231775 SNP in exon 1 of CTLA4 showed significant associations with RS. • Rs2227982 SNP in exon 5 of PDCD1 showed significant associations with RS. • SNPs of T - bet showed no association with RS. |
| doi_str_mv | 10.1016/j.eplepsyres.2013.09.004 |
| format | Article |
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Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>PDCD1</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Polymorphism, Single Nucleotide - immunology</subject><subject>Programmed Cell Death 1 Receptor - genetics</subject><subject>Programmed Cell Death 1 Receptor - immunology</subject><subject>Rasmussen syndrome</subject><subject>Retrospective Studies</subject><subject>T-bet</subject><subject>T-Box Domain Proteins - genetics</subject><subject>T-Box Domain Proteins - immunology</subject><issn>0920-1211</issn><issn>1872-6844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi0EokvhL6BckLgkjD82a1-QoIK2UqVKfJwtx5kUL0m8eJJW-fc42oVKnDjN5XnfGT3DWMGh4sDrd_sKDz0eaElIlQAuKzAVgHrCNlzvRFlrpZ6yDRgBJRecn7EXRHsA2IFSz9mZUKI2ObZht5c44hR8ce9ScFOIIxWxK8IwzGNMeDf3boppKe4yRoUjij5j2BYPYfpRfHE0zEQ4FrSMbYoDvmTPOtcTvjrNc_b986dvF1flze3l9cWHm9KrrZnKRm-VEFutANqm9k432DQGpcAtqs6h4toZI7k0qnFKSy8aY5zqtGhU23kuz9nbY-8hxV8z0mSHQB773o0YZ7Jc1UoZsatlRvUR9SkSJezsIYXBpcVysKtOu7ePOu2q04KxWWeOvj5tmZsB27_BP_4y8OYEOPKu75IbfaBHToMUQq1FH48cZif3AZMlH3D02IaEfrJtDP9zzft_SnwfxpD3_sQFaR_nNGbnllsSFuzX9f3r97kEyEdw-RttSa8T</recordid><startdate>20131201</startdate><enddate>20131201</enddate><creator>Takahashi, Yukitoshi</creator><creator>Mogami, Yukiko</creator><creator>Mine, June</creator><creator>Imai, Katsumi</creator><creator>Koide, Yasumichi</creator><creator>Matsuda, Kazumi</creator><creator>Akasaka, Noriyuki</creator><creator>Konishi, Takashi</creator><creator>Imamura, Atsushi</creator><creator>Inoue, Yushi</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-1599-0276</orcidid></search><sort><creationdate>20131201</creationdate><title>Genetic variations of immunoregulatory genes associated with Rasmussen syndrome</title><author>Takahashi, Yukitoshi ; Mogami, Yukiko ; Mine, June ; Imai, Katsumi ; Koide, Yasumichi ; Matsuda, Kazumi ; Akasaka, Noriyuki ; Konishi, Takashi ; Imamura, Atsushi ; Inoue, Yushi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c459t-b8542258400db6ca8bebb9e32e5e4fae418a9931394ba483c2b99a4f82b4dfc13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>CTLA-4 Antigen - genetics</topic><topic>CTLA-4 Antigen - immunology</topic><topic>CTLA4</topic><topic>Encephalitis - genetics</topic><topic>Encephalitis - immunology</topic><topic>Epilepsy</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation - immunology</topic><topic>Headache. 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| subjects | Adolescent Asian Continental Ancestry Group - genetics Biological and medical sciences Child Child, Preschool CTLA-4 Antigen - genetics CTLA-4 Antigen - immunology CTLA4 Encephalitis - genetics Encephalitis - immunology Epilepsy Female Genetic Predisposition to Disease Genetic Variation - immunology Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Male Medical sciences Nervous system (semeiology, syndromes) Neurology PDCD1 Polymorphism, Single Nucleotide - genetics Polymorphism, Single Nucleotide - immunology Programmed Cell Death 1 Receptor - genetics Programmed Cell Death 1 Receptor - immunology Rasmussen syndrome Retrospective Studies T-bet T-Box Domain Proteins - genetics T-Box Domain Proteins - immunology |
| title | Genetic variations of immunoregulatory genes associated with Rasmussen syndrome |
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