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Familial Aicardi–Goutières syndrome due to SAMHD1mutations is associated with chronic arthropathy and contracturesNo authors describe a conflict of interest.The clinical phenomenology was defined by R.C.D., D.SG. and M.A. The genetic studies were performed by H.G., G.I.R. and Y.J.C. R.C.D. and Y.J.C. wrote the first drafts of the article, and all authors were involved in writing the final drafts of the article.How to cite this article: Dale RC, Gornall H, SinghGrewal D, Alcausin M, Rice GI, Crow YJ. 2010. Familial Aicardi–Goutières syndrome due to SAMHD1mutations is associated with chronic arthropathy and contractures. Am J Med Genet Part A 152A:938–942.

Autor: Dale, Russell C., Gornall, Hannah, SinghGrewal, Davinder, Alcausin, Melanie, Rice, Gillian I., Crow, Yanick J.

Publikováno v: American Journal of Medical Genetics. Part A; April 2010, Vol. 152 Issue: 4 p938-942, 5p

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

Autor: Ramesh, V, Bernardi, B, Stafa, A, Garone, Caterina, Franzoni, E, Abinun, M, Mitchell, P, Mitra, D, Friswell, M, Nelson, J, Shalev, Sa, Rice, Gi, Gornall, H, Szynkiewicz, M, Aymard, F, Ganesan, V, Prendiville, J, Livingston, Jh, Crow, Yj

AIM: To describe a spectrum of intracerebral large artery disease in Aicardi-Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. METHOD: We used clinical and radiological description and molecular analysis. RESULTS: Five indi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ccb378107e2056a4e3eea7ca7540a896
http://hdl.handle.net/11585/96168

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

Autor: Karla AR; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Pinard A; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Boerio ML; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Tavernier SJ; Department of Internal Medicine and Pediatrics, Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., De Pauw M; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Vereecke E; Department of Radiology, Ghent University Hospital, Ghent, Belgium., Fraser S; Division of Child Neurology, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63486. Date of Electronic Publication: 2023 Dec 01.

CCR7 ⁺ selected gene-modified T cells maintain a central memory phenotype and display enhanced persistence in peripheral blood in vivo.

Autor: Kueberuwa G; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Gornall H; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Alcantar-Orozco EM; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Bouvier D; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Kapacee ZA; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Hawkins RE; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK., Gilham DE; Clinical and Experimental Immunotherapy Group, Manchester Cancer Research Centre, Faculty of Biology, Medicine and Health, Division of Cancer Sciences, The University of Manchester, Wilmslow Road, Withington, Manchester, M20 4QL UK.

Publikováno v: Journal for immunotherapy of cancer [J Immunother Cancer] 2017 Feb 21; Vol. 5, pp. 14. Date of Electronic Publication: 2017 Feb 21 (Print Publication: 2017).