F
F. Buket Basmanav
Researcher at University of Bonn
Publications - 16
Citations - 392
F. Buket Basmanav is an academic researcher from University of Bonn. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 8, co-authored 9 publications receiving 303 citations. Previous affiliations of F. Buket Basmanav include University of Göttingen.
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Journal ArticleDOI
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
F. Buket Basmanav,Ana-Maria Oprisoreanu,Sandra M. Pasternack,Holger Thiele,Günter Fritz,Jörg Wenzel,Leopold Größer,Maria Wehner,Sabrina Wolf,Christina Fagerberg,Anette Bygum,Janine Altmüller,Arno Rütten,Laurent Parmentier,Laila El Shabrawi-Caelen,Christian Hafner,Peter Nürnberg,Roland Kruse,Susanne Schoch,Sandra Hanneken,Regina C. Betz +20 more
TL;DR: Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity, and the results emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.
Journal ArticleDOI
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
F. Buket Basmanav,F. Buket Basmanav,Laura Cau,Aylar Tafazzoli,Marie-Claire Méchin,Sabrina Wolf,Maria Teresa Romano,F. Valentin,H. Wiegmann,Anne Huchenq,Rima Kandil,Natalie Garcia Bartels,Arzu Kiliç,Susannah Mary Creighton George,Damian J. Ralser,Stefan Bergner,David J. P. Ferguson,Ana-Maria Oprisoreanu,Maria Wehner,Holger Thiele,Janine Altmüller,Peter Nürnberg,Daniel Swan,Darren T. Houniet,Aline Büchner,Lisa Weibel,Lisa Weibel,Nicola Wagner,Ramon Grimalt,Anette Bygum,Guy Serre,Ulrike Blume-Peytavi,Eli Sprecher,Susanne Schoch,Vinzenz Oji,Henning Hamm,Paul Farrant,Michel Simon,Regina C. Betz +38 more
TL;DR: The identification of UHS-causative mutations located in the three genes PADI3, TGM3, and TCHH in a total of 11 children indicates an autosomal-recessive inheritance pattern in the majority of U HS case subjects.
Journal ArticleDOI
Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Damian J. Ralser,F. Buket Basmanav,Aylar Tafazzoli,Jade Wititsuwannakul,Sarah Delker,Sumita Danda,Holger Thiele,Sabrina Wolf,Michélle Busch,Susanne Pulimood,Janine Altmüller,Peter Nürnberg,Didier Lacombe,Uwe Hillen,Jörg Wenzel,Jorge Frank,Benjamin Odermatt,Regina C. Betz +17 more
TL;DR: A DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI is described.
Journal ArticleDOI
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
F. Buket Basmanav,Günter Fritz,Gilles G. Lestringant,Divya Pachat,Sabine Hoffjan,J. Fischer,Maria Wehner,Sabrina Wolf,Holger Thiele,Janine Altmüller,Susanne Pulimood,Arno Rütten,Roland Kruse,Sandra Hanneken,Jorge Frank,Sumita Danda,Anette Bygum,Regina C. Betz +17 more
Journal ArticleDOI
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
J. Fischer,Franziska Degenhardt,Andrea Hofmann,Silke Redler,F. Buket Basmanav,Stefanie Heilmann-Heimbach,Sandra Hanneken,Kathrin A. Giehl,Hans Wolff,Susanne Moebus,Roland Kruse,Gerhard Lutz,Bettina Blaumeiser,Markus Böhm,Natalie Garcia Bartels,Ulrike Blume-Peytavi,Lynn Petukhova,Angela M. Christiano,Markus M. Nöthen,Regina C. Betz +19 more
TL;DR: In this paper, a genomewide and a candidate gene-focused CNV analysis was performed in a cohort of 585 patients with alopecia areata and 1340 controls of Central European origin.