Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Erogullari, A."'
Autor:
Alev Erogullari, Christoph Kamm, Vladimir S. Kostic, Andreas Dendorfer, Jens Volkmann, Nils Uflacker, Marina Svetel, Alexander Schmidt, Norbert Brüggemann, Elena Moro, Eckart Altenmüller, Katja Lohmann, Andrea A. Kühn, Christine Klein, Andreas Ferbert, Susanne A. Schneider, Andreas Kupsch, Matthias Wittstock, Simone Zittel, Frank J. Kaiser, Alma Osmanovic, Alexander Münchau, Thora Lohnau, Susen Winkler
Publikováno v:
European Journal of Human Genetics. 20:171-175
Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd2f7eb643168d22352194b48d89573
https://doi.org/10.1038/ejhg.2011.159
https://doi.org/10.1038/ejhg.2011.159
Autor:
Hossein Najmabadi, Katja Lohmann, Mohammad Ali Shafa, Kaveh Shafiee, Ideh Bahman, Alfredo Ramirez, Susen Winkler, Frank J. Kaiser, Christine Klein, Alev Erogullari, Alma Osmanovic, Kailish P. Bhatia, Susanne A. Schneider, Norbert Brüggemann
Publikováno v:
Movement Disorders. 26:858-861
To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome-wide homozygosity mapping. This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7866af29009df509d283954587ddf3af
https://doi.org/10.1002/mds.23561
https://doi.org/10.1002/mds.23561
Autor:
Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Diana Braunholz, Alev Erogullari, Aleksandar Rakovic, Alma Osmanoric, Slobodanka Orolicki, Katja Lohmann, Christine Klein, Melanie Albrecht, Nils Uflacker, Thora Lohnau
Publikováno v:
Annals of Neurology. 68:554-559
Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of DYT1 (TOR1A), another dystonia-causing gene. After characteriza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77110b0c29b679facc5b8724a16d1e2a
https://doi.org/10.1002/ana.22157
https://doi.org/10.1002/ana.22157
Autor:
Aykut Cilli, Ismail Erogullari, Metin Çubuk, Gokhan Arslan, Tülay Özdemir, Candan Öğüş, R. Onur, Can Özkaynak
Publikováno v:
Acta Radiologica. 48:405-411
Purpose: To determine whether low-dose spiral computed tomography (LDCT) can improve the lung cancer detection rate in chronic obstructive pulmonary disease (COPD) subjects. Material and Methods: From October 1999 to December 2003, 374 COPD patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1196b22397eb3bbb89e0e5d52f98c221
https://doi.org/10.1080/02841850701227776
https://doi.org/10.1080/02841850701227776
Autor:
Nils Uflacker, Conchi Gil‐Rodríguez, Frank J. Kaiser, Diana Braunholz, Gudrun Vierke, Alma Osmanovic, Norbert Brüggemann, Alexander Münchau, Gabriele Gillessen-Kaesbach, Christine Klein, Alev Erogullari, Andreas Dendorfer, Aleksandar Rakovic, Melanie Albrecht, Katja Lohmann
Publikováno v:
Movement Disorders. 26:1565-1567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8e3fd4127dcf2f4b3f530689680b811
https://doi.org/10.1002/mds.23611
https://doi.org/10.1002/mds.23611
Autor:
Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Ronja Hollstein, Alev Erogullari, Diana Braunholz, Philip Seibler, Reinhard Depping, Thora Lohnau, Juliane Eckhold, Anne Grünewald, Eva Koschmidder, Aleksandar Rakovic, Katja Lohmann
Publikováno v:
Biochimica et biophysica acta. 1839(11)
THAP1 encodes a transcription factor but its regulation is largely elusive. TOR1A was shown to be repressed by THAP1 in vitro. Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1). Surprisingly, expressional changes of TOR1A in T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f19b2a46c8671ff80b076fa500c6e9
https://pubmed.ncbi.nlm.nih.gov/25088175
https://pubmed.ncbi.nlm.nih.gov/25088175
Autor:
Anne Weißbach, Daniel Alvarez-Fischer, Aleksandar Rakovic, Alev Erogullari, Karin Wiegers, Arndt Rolfs, Frank J. Kaiser, Alexander Schmidt, Franca Vulinovic, Katja Lohmann, Christine Klein, Philipp Capetian, Philip Seibler, Andreas Ferbert
Publikováno v:
Human mutation. 35(9)
A three-nucleotide (GAG) deletion (ΔE) in TorsinA (TOR1A) has been identified as the most common cause of dominantly inherited early-onset torsion dystonia (DYT1). TOR1A encodes a chaperone-like AAA+-protein localized in the endoplasmic reticulum. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e812f09171f8e58c19d49f4e333d683d
https://pubmed.ncbi.nlm.nih.gov/24931141
https://pubmed.ncbi.nlm.nih.gov/24931141
Publikováno v:
Breathe. 1:57-59
A 56-yr-old female who had chronic dry cough for 1 yr was evaluated. She was otherwise healthy and immunocompetent. There was no history of past or present lung disease, smoking habit or recent oral operation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee34f4d058b9372e41c1521a1fbf9a45
https://doi.org/10.1183/18106838.0101.57
https://doi.org/10.1183/18106838.0101.57
Autor:
Alma, Osmanovic, Andreas, Dendorfer, Alev, Erogullari, Nils, Uflacker, Diana, Braunholz, Aleksandar, Rakovic, Gudrun, Vierke, Conchi, Gil-Rodríguez, Alexander, Münchau, Melanie, Albrecht, Norbert, Brüggemann, Gabriele, Gillessen-Kaesbach, Christine, Klein, Katja, Lohmann, Frank J, Kaiser
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 26(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17ecc0f7fe8d180307a2ed9de5d0c316
https://pubmed.ncbi.nlm.nih.gov/21495072
https://pubmed.ncbi.nlm.nih.gov/21495072
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