日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Comorbid Bronchial Asthma, Atopic Dermatitis and Hashimoto's Thyroiditis Are Risk Factors for Early-Onset, Severe and Prolonged Alopecia Areata

合并支气管哮喘、特应性皮炎和桥本甲状腺炎是早发性、严重和长期斑秃的危险因素

Friedrich, Annika; Schmitz, Marie-Therese; Gossmann, Yasmina; Redler, Silke; Blaumeiser, Bettina; Lutz, Gerhard; Blume-Peytavi, Ulrike; Nöthen, Markus M; Betz, Regina C; Basmanav, F Buket

Protein nanobarcodes enable single-step multiplexed fluorescence imaging

蛋白质纳米条形码可实现单步多路复用荧光成像

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

Recent advances in the genetics of alopecia areata

斑秃遗传学的最新进展

Buket Basmanav, F; Betz, Regina C

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

对107名个体队列中难梳头发综合征的遗传谱进行评估

Basmanav, F Buket; Cesarato, Nicole; Kumar, Sheetal; Borisov, Oleg; Kokordelis, Pavlos; Ralser, Damian J; Wehner, Maria; Axt, Daisy; Xiong, Xing; Thiele, Holger; Dolgin, Vadim; Gossmann, Yasmina; Fricker, Nadine; Dewenter, Malin Katharina; Weller, Karsten; Suri, Mohnish; Reichenbach, Herbert; Oji, Vinzenz; Addor, Marie-Claude; Ramirez, Karla; Stewart, Helen; Garcia Bartels, Natalie; Weibel, Lisa; Wagner, Nicola; George, Susannah; Kilic, Arzu; Tantcheva-Poor, Iliana; Stewart, Alison; Dikow, Nicola; Blaumeiser, Bettina; Medvecz, Márta; Blume-Peytavi, Ulrike; Farrant, Paul; Grimalt, Ramon; Bertok, Sara; Bradley, Lisa; Eskin-Schwartz, Marina; Birk, Ohad Samuel; Bygum, Anette; Simon, Michel; Krawitz, Peter; Fischer, Christine; Hamm, Henning; Fritz, Günter; Betz, Regina C

A nanobody-based fluorescent reporter reveals human α-synuclein in the cell cytosol

基于纳米抗体的荧光报告基因揭示细胞胞质中的人类 α-突触核蛋白

Christoph Gerdes, Natalia Waal, Thomas Offner, Eugenio F Fornasiero, Nora Wender, Hannes Verbarg, Ivan Manzini, Claudia Trenkwalder, Brit Mollenhauer, Timo Strohäker, Markus Zweckstetter, Stefan Becker, Silvio O Rizzoli, Fitnat Buket Basmanav #, Felipe Opazo #

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis

Dowling-Degos病中Notch信号通路改变:POGLUT1基因的其他突变及对疾病发病机制的进一步见解

Ralser, Damian J; Takeuchi, Hideyuki; Fritz, Günter; Basmanav, F Buket; Effern, Maike; Sivalingam, Sugirthan; El-Shabrawi-Caelen, Laila; Degirmentepe, Ece N; Kocatürk, Emek; Singh, Manuraj; Booken, Nina; Spierings, Natalia M K; Schnabel, Viktor; Heineke, Andre; Knuever, Jana; Wolf, Sabrina; Wehner, Maria; Tronnier, Michael; Leverkus, Martin; Tantcheva-Poór, Iliana; Wenzel, Jörg; Oji, Vinzenz; Has, Cristina; Hölzel, Michael; Frank, Jorge; Haltiwanger, Robert S; Betz, Regina C

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

常染色体显性少毛症伴有卷曲毛发:4q35.1-q35.2 染色体上的新基因位点

Annika E Schlaweck, Rachid Tazi-Ahnini, F Buket Ü Basmanav, Javed Mohungoo, Sandra M Pasternack-Ziach, Manuel Mattheisen, Ana-Maria Oprisoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew Messenger, Regina C Betz

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

编码γ-分泌酶亚基的PSENEN基因突变是与反向痤疮相关的道林-德戈斯病的基础。

Ralser, Damian J; Basmanav, F Buket Ü; Tafazzoli, Aylar; Wititsuwannakul, Jade; Delker, Sarah; Danda, Sumita; Thiele, Holger; Wolf, Sabrina; Busch, Michélle; Pulimood, Susanne A; Altmüller, Janine; Nürnberg, Peter; Lacombe, Didier; Hillen, Uwe; Wenzel, Jörg; Frank, Jorge; Odermatt, Benjamin; Betz, Regina C

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

三种编码毛干形成相关蛋白质的基因突变导致难梳头发综合征

F Buket Ü Basmanav, Laura Cau, Aylar Tafazzoli, Marie-Claire Méchin, Sabrina Wolf, Maria Teresa Romano, Frederic Valentin, Henning Wiegmann, Anne Huchenq, Rima Kandil, Natalie Garcia Bartels, Arzu Kilic, Susannah George, Damian J Ralser, Stefan Bergner, David J P Ferguson, Ana-Maria Oprisoreanu, Mar

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease

编码蛋白质 O-葡萄糖基转移酶 1 的 POGLUT1 突变会导致常染色体显性 Dowling-Degos 病

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