Zobrazeno 1 - 10
of 19
pro vyhledávání: '"F. Buket Basmanav"'
Autor:
Silke Redler, F. Buket Basmanav, Bettina Blaumeiser, Natalie Garcia Bartels, Gerhard Lutz, Aylar Tafazzoli, Roland Kruse, Hans Wolff, Markus Böhm, Ulrike Blume-Peytavi, Tim Becker, Markus M. Nöthen, Regina C. Betz
Publikováno v:
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 862-863 (2017)
Externí odkaz:
https://doaj.org/article/5ac104e84fc544e79e632cc047ebea62
Autor:
Daniëlle de Jong-Bolm, Mohsen Sadeghi, Cristian A Bogaciu, Guobin Bao, Gabriele Klaehn, Merle Hoff, Lucas Mittelmeier, F Buket Basmanav, Felipe Opazo, Frank Noé, Silvio O Rizzoli
Publikováno v:
PLoS Biology, Vol 21, Iss 12, p e3002427 (2023)
Multiplexed cellular imaging typically relies on the sequential application of detection probes, as antibodies or DNA barcodes, which is complex and time-consuming. To address this, we developed here protein nanobarcodes, composed of combinations of
Externí odkaz:
https://doaj.org/article/a0fe7e696f5542bd88b88b00a857d7ee
Autor:
F. Buket Basmanav, Regina C. Betz
Publikováno v:
Medizinische Genetik. 35:15-22
Alopecia areata (AA) is a common autoimmune-mediated hair loss disorder in humans with an estimated lifetime risk of approximately 2 %. Episodes of hair loss usually begin with isolated hairless patches that may progress to complete hair loss over th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18a57911b1d3261bd65743157b100efe
https://doi.org/10.1515/medgen-2023-2004
https://doi.org/10.1515/medgen-2023-2004
Autor:
Xing Xiong, Syed Ashraf Uddin, Sobia Munir, Nicole Cesarato, Holger Thiele, Noor Hassan, Surjeet Kumar, Fazal Ur Rehman, Muhammad Naeem, Abdul Wali, Sulman Basit, F Buket Basmanav, Muhammad Ayub, Regina C Betz
Publikováno v:
Clinical and Experimental Dermatology. 48:434-437
We identified a novel homozygous disease-causing variant in TMC8 in a Pakistani family with epidermodysplasia verruciformis (EV). The phenotype of EV in the affected individuals was most probably caused by an aberrant splicing process. The molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d56958d1dd2535ede95a2d919bedf69
https://doi.org/10.1093/ced/llad042
https://doi.org/10.1093/ced/llad042
Autor:
F. Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Damian J. Ralser, Maria Wehner, Daisy Axt, Xing Xiong, Holger Thiele, Vadim Dolgin, Yasmina Gossmann, Nadine Fricker, Malin Katharina Dewenter, Karsten Weller, Mohnish Suri, Herbert Reichenbach, Vinzenz Oji, Marie-Claude Addor, Karla Ramirez, Helen Stewart, Natalie Garcia Bartels, Lisa Weibel, Nicola Wagner, Susannah George, Arzu Kilic, Iliana Tantcheva-Poor, Alison Stewart, Nicola Dikow, Bettina Blaumeiser, Márta Medvecz, Ulrike Blume-Peytavi, Paul Farrant, Ramon Grimalt, Sara Bertok, Lisa Bradley, Marina Eskin-Schwartz, Ohad Samuel Birk, Anette Bygum, Michel Simon, Peter Krawitz, Christine Fischer, Henning Hamm, Günter Fritz, Regina C. Betz
Publikováno v:
JAMA dermatology
ImportanceUncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far.ObjectiveTo elucid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d98f654eadba90de7c6182c524354d
https://pubmed.ncbi.nlm.nih.gov/36044230
https://pubmed.ncbi.nlm.nih.gov/36044230
Autor:
F Buket, Basmanav, Regina C, Betz
Publikováno v:
Expert Review of Clinical Immunology. 18:845-857
Alopecia areata (AA) is a non-scarring, hair loss disorder and a common autoimmune-mediated disease with an estimated lifetime risk of about 2%. To date, the treatment of AA is mainly based on suppression or stimulation of the immune response. Genomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::486c379f7d0c2b2441bc007363bef7fd
https://doi.org/10.1080/1744666x.2022.2096590
https://doi.org/10.1080/1744666x.2022.2096590
Autor:
Michélle Busch, Regina C. Betz, F. Buket Basmanav, Aylar Tafazzoli, Jorge Frank, Peter Nürnberg, Sarah Delker, Janine Altmüller, Sabrina Wolf, Benjamin Odermatt, Susanne Pulimood, Didier Lacombe, Sumita Danda, Holger Thiele, Uwe Hillen, Damian J. Ralser, Jörg Wenzel, Jade Wititsuwannakul
Publikováno v:
Journal of Clinical Investigation. 127:1485-1490
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b32532cd770d168562708761d84680f
https://doi.org/10.1172/jci90667
https://doi.org/10.1172/jci90667
Autor:
Roland Kruse, Regina C. Betz, Jorge Frank, Sandra Hanneken, Arno Rütten, Susanne Pulimood, J. Fischer, Gilles G. Lestringant, Sabrina Wolf, Sumita Danda, Holger Thiele, Divya Pachat, Maria Wehner, Günter Fritz, F. Buket Basmanav, Janine Altmüller, Sabine Hoffjan, Anette Bygum
Publikováno v:
Basmanav, F B, Fritz, G, Lestringant, G G, Pachat, D, Hoffjan, S, Fischer, J, Wehner, M, Wolf, S, Thiele, H, Altmüller, J, Pulimood, S A, Rütten, A, Kruse, R, Hanneken, S, Frank, J, Danda, S, Bygum, A & Betz, R C 2015, ' Pathogenicity of POFUT1 in Dowling-Degos Disease : Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura ', Journal of Investigative Dermatology, vol. 135, no. 2, pp. 615-618 . https://doi.org/10.1038/jid.2014.406
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f001d15b7645fd0513c39f8728dd9b
https://doi.org/10.1038/jid.2014.406
https://doi.org/10.1038/jid.2014.406
Autor:
Anette Bygum, Regina C. Betz, Maria Wehner, Ana-Maria Oprisoreanu, Janine Altmüller, Sandra Hanneken, Holger Thiele, Laila El Shabrawi-Caelen, F. Buket Basmanav, Leopold Größer, Sabrina Wolf, Christina Fagerberg, Günter Fritz, Arno Rütten, Peter Nürnberg, Laurent Parmentier, Susanne Schoch, Jörg Wenzel, Sandra M. Pasternack, Christian Hafner, Roland Kruse
Publikováno v:
Basmanav, F B, Oprisoreanu, A-M, Pasternack, S M, Thiele, H, Fritz, G, Wenzel, J, Größer, L, Wehner, M, Wolf, S, Fagerberg, C, Bygum, A, Altmüller, J, Rütten, A, Parmentier, L, El Shabrawi-Caelen, L, Hafner, C, Nürnberg, P, Kruse, R, Schoch, S, Hanneken, S & Betz, R C 2014, ' Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease ', American Journal of Human Genetics, vol. 94, no. 1, pp. 135-143 . https://doi.org/10.1016/j.ajhg.2013.12.003
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ca662cac85a0e4abc8528bfc9a7ffd
https://doi.org/10.1016/j.ajhg.2013.12.003
https://doi.org/10.1016/j.ajhg.2013.12.003
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