Zobrazeno 1 - 10
of 621
pro vyhledávání: '"C, Betz"'
Publikováno v:
JEADV Clinical Practice, Vol 2, Iss 2, Pp 313-315 (2023)
Abstract Uncombable hair syndrome (UHS) is a rare disorder of hair shaft morphology. UHS presents in early childhood with blonde, dry and frizzy scalp hair. The rate of hair growth may be normal or slow. The UHS hair shaft is characterized by a trian
Externí odkaz:
https://doaj.org/article/f12e17d1bd8246a2adefa5ceae63d1d9
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
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 21:337-342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3f587abd57ed79798449df8912cb2ff
https://doi.org/10.1111/ddg.15054_g
https://doi.org/10.1111/ddg.15054_g
Autor:
Lara M Hochfeld, Marta Bertolini, David Broadley, Natalia V Botchkareva, Regina C Betz, Susanne Schoch, Markus M Nöthen, Stefanie Heilmann-Heimbach
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0256846 (2021)
More than 300 genetic risk loci have been identified for male pattern baldness (MPB) but little is known about the exact molecular mechanisms through which the associated variants exert their effects on MPB pathophysiology. Here, we aimed at further
Externí odkaz:
https://doaj.org/article/73204e71959b4dd0bf12d58f9788dc84
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 21:337-341
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dd93496104603e91c36234c7b6ee44d
https://doi.org/10.1111/ddg.15054
https://doi.org/10.1111/ddg.15054
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:
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 16, p adv00275 (2020)
Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa
Externí odkaz:
https://doaj.org/article/bd4f63c7928444829e12ffa91cf0efd2
Publikováno v:
Applied Sciences, Vol 11, Iss 20, p 9719 (2021)
The radical polymerisation of acrylic acid is largely concentration dependent and affected by the type of the surrounding solvent. This work investigates reaction rate constants, the activation energy, heat flux and the molecular weight in the indust
Externí odkaz:
https://doaj.org/article/61c9142e441349e0a66047d3c6f9e59e
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