Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).

Autor: Anja Brinckmann, Claudia Weiss, Friederike Wilbert, Arpad von Moers, Angelika Zwirner, Gisela Stoltenburg-Didinger, Ekkehard Wilichowski, Markus Schuelke

Publikováno v: PLoS ONE, Vol 5, Iss 10, p e13513 (2010)

Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtD

Externí odkaz: https://doaj.org/article/51d329bc1dd844f78f6fd4c0d1b6552f

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Autor: Susanne Morales-Gonzalez, Janbernd Kirschner, Klaus Zerres, Mickael Orgeur, Gudrun Schottmann, Esther Gill, Werner Stenzel, Ellen Knierim, Nicole I. Wolf, Hiromi Hirata, Angelika Zwirner, Yu Tanaka, Anne van Riesen, Stefanie Vogt, Markus Schuelke, Franziska Seifert, David Meierhofer, Sigmar Stricker, Sabine Rudnik-Schöneborn, Christoph Hübner, Hans H. Goebel

Publikováno v: Knierim, E, Hirata, H, Wolf, N I, Morales-Gonzalez, S, Schottmann, G, Tanaka, Y, Rudnik-Schoeneborn, S, Orgeur, M, Zerres, K, Vogt, S, van Riesen, A, Gill, E, Seifert, F, Zwirner, A, Kirschner, J, Goebel, H H, Huebner, C, Stricker, S, Meierhofer, D, Stenzel, W & Schuelke, M 2016, ' Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures ', American journal of human genetics, vol. 98, no. 3, pp. 473-489 . https://doi.org/10.1016/j.ajhg.2016.01.006
American journal of human genetics, 98(3), 473-489. Cell Press
The American Journal of Human Genetics

Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes ( TRIP4 and ASCC1 ) that encode subunits

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51cad6315823e681cf1c418a827a08ad
https://research.vumc.nl/en/publications/428dee52-c1cb-4f2f-a2f9-4eb78ff25e93

Examination of Telomere Lengths in Muscle Tissue Casts Doubt on Replicative Aging as Cause of Progression in Duchenne Muscular Dystrophy

Autor: Alfried Kohlschütter, Astrid Speer, Angelika Zwirner, Klaus Freudenberg, Konrad Oexle

Publikováno v: Pediatric Research. 42:226-231

The mean telomere length (TL) of somatic cells indicates their replicative age. In comparison with normal leukocytes (-0.03 kbp/y, 6.2 kbp at 80 y), we found advanced TL shortening in premature aging due to ataxia-telangiectasia or the Nijmegen chrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b528aa1e34cd97ae105240743516ddb
https://doi.org/10.1203/00006450-199708000-00016

The influence of topical dermatological treatment modalities on epidermal Langerhans cells and contact sensitization in mice

Autor: Gruner S, Niels Sönnichsen, Dirk Strunk, Angelika Zwirner

Publikováno v: Contact Dermatitis. 26:241-247

The influence of the widely used topical dermatological treatment modalities anthralin, coal tar and pyrogallol on surface markers of epidermal Langerhans cells and contact sensitization was studied and compared with that of a PUVA treatment. A commo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4635ffcc890ab89d8ae5a6d7fd7cac18
https://doi.org/10.1111/j.1600-0536.1992.tb00236.x

Neuropathologic findings in patients with primary autosomal recessive microcephaly

Autor: Gisela Stoltenburg-Didinger, Angela M. Kaindl, M. Martelli, Angelika Zwirner

Publikováno v: Neuropediatrics. 39

Autosomal recessive primary microcephaly (MCPH, syn. Microcephalia vera) is a rare, genetically heterogeneous disease, in which patients exhibit microcephaly by the 32nd week of gestation. Genetic causes of MCPH subtypes 1–6 include mutations in ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3a01abfbdd57b40686a9363e12b15d8
https://doi.org/10.1055/s-0029-1215753