Zobrazeno 1 - 10
of 202
pro vyhledávání: '"Birgitte Lane"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-24 (2024)
Abstract Arrhythmogenic cardiomyopathy (AC) is a common cause of sudden cardiac arrest and death in young adults. It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carboxyte
Externí odkaz:
https://doaj.org/article/b62ebef847be48b89fd25aa85fbf286b
Publikováno v:
FASEB BioAdvances, Vol 4, Iss 10, Pp 631-637 (2022)
Abstract Organotypic skin cultures represent in vitro models of skin which can be used for disease modeling, tissue engineering, and screening applications. Non‐human collagen is currently the gold standard material used for the construction of the
Externí odkaz:
https://doaj.org/article/dc70949910a8434a8433b572a498d103
Autor:
Cedric Badowski, Tong San Tan, Teimur Aliev, David Trudil, Maria Larina, Viсtoria Argentova, Muhammad Jasrie Firdaus, Paula Benny, Vivien S.T. Woo, E. Birgitte Lane
Publikováno v:
JID Innovations, Vol 2, Iss 2, Pp 100096- (2022)
Epidermolysis bullosa is a group of severe skin blistering disorders, which currently have no cure. The pathology of epidermolysis bullosa is recognized as having an inflammatory component, but the role of inflammation in different epidermolysis bull
Externí odkaz:
https://doaj.org/article/1f3f8a32ff68444688d6a6207c54b3c5
Autor:
Rókus Kriszt, Satoshi Arai, Hideki Itoh, Michelle H. Lee, Anna G. Goralczyk, Xiu Min Ang, Aaron M. Cypess, Andrew P. White, Farnaz Shamsi, Ruidan Xue, Jung Yeol Lee, Sung-Chan Lee, Yanyan Hou, Tetsuya Kitaguchi, Thankiah Sudhaharan, Shin’ichi Ishiwata, E. Birgitte Lane, Young-Tae Chang, Yu-Hua Tseng, Madoka Suzuki, Michael Raghunath
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract The identification of brown adipose deposits in adults has led to significant interest in targeting this metabolically active tissue for treatment of obesity and diabetes. Improved methods for the direct measurement of heat production as the
Externí odkaz:
https://doaj.org/article/52a314579272494397c0203168538870
Autor:
Dilip Kumar, Kia Joo Puan, Anand Kumar Andiappan, Bernett Lee, Geertje H. A. Westerlaken, Doreen Haase, Rossella Melchiotti, Zhuang Li, Nurhashikin Yusof, Josephine Lum, Geraldine Koh, Shihui Foo, Joe Yeong, Alexessander Couto Alves, Juha Pekkanen, Liang Dan Sun, Astrid Irwanto, Benjamin P. Fairfax, Vivek Naranbhai, John E. A. Common, Mark Tang, Chin Keh Chuang, Marjo-Riitta Jarvelin, Julian C. Knight, Xuejun Zhang, Fook Tim Chew, Shyam Prabhakar, Liu Jianjun, De Yun Wang, Francesca Zolezzi, Michael Poidinger, E. Birgitte Lane, Linde Meyaard, Olaf Rötzschke
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-16 (2017)
Abstract Background Expression quantitative trait loci (eQTL) databases represent a valuable resource to link disease-associated SNPs to specific candidate genes whose gene expression is significantly modulated by the SNP under investigation. We prev
Externí odkaz:
https://doaj.org/article/5e11065b92e948459f1e77a7ba21067a
Autor:
Nikola Kolundzic, Preeti Khurana, Liani Devito, Matthew Donne, Carl Hobbs, Jakob Jeriha, Xuan Fei Colin Cornelius Wong, John A.E. Common, Ellen Birgitte Lane, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko Ilic
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
We have generated an induced pluripotent stem cell (iPSC) line KCLi002-A (iOP107) from a female donor, heterozygous for the loss-of-function mutation p.R2447X in the filaggrin gene (FLG). Epidermal keratinocytes were reprogrammed using non-integratin
Externí odkaz:
https://doaj.org/article/b56bfa3b8a5d4b62af061a2195717822
Autor:
Judith B. Fülle, Rogerio Alves de Almeida, Craig Lawless, Bian Yanes, E. Birgitte Lane, David R. Garrod, Christoph Ballestrem
Desmosomes are multiprotein adhesion complexes that link intermediate filaments to the plasma membrane, ensuring the mechanical integrity of cells across tissues, but how they participate in the wider signalling network to exert their full function i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12b6df79d02ba01b6e4b79c3026310b8
https://doi.org/10.1101/2023.03.24.534085
https://doi.org/10.1101/2023.03.24.534085
Publikováno v:
Stem Cell Reports, Vol 3, Iss 2, Pp 324-338 (2014)
Epidermal stem cells have been in clinical application as a source of culture-generated grafts. Although applications for such cells are increasing due to aging populations and the greater incidence of diabetes, current keratinocyte grafting technolo
Externí odkaz:
https://doaj.org/article/a042135d72be4e419e00731708b9a514
Autor:
Yi Zhen Ng, Lynette Wei Yi Wee, Ene-Choo Tan, Cristelle Chow, Ellen Birgitte Lane, Siew-Peng Lee, Hwee-Woon Lim, Te Lu Yap, Priya Bishnoi, John E.A. Common, Christina Ong, Mei Yi Low, Lian Derrick, Yee Hui Mok, Mark Jean Aan Koh, Declan P. Lunny
Publikováno v:
Pediatric Dermatology. 38:908-912
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0d6b28c67317100a8d312dbdd76a1c8
https://doi.org/10.1111/pde.14668
https://doi.org/10.1111/pde.14668
Autor:
Yi Zhen Ng, Heming Wei, Leong Kin Fon, E. Birgitte Lane, Inne Arline Diana, Priya Bishnoi, Declan P. Lunny, Srie Prihianti Gondokaryono, Mark Jean Aan Koh, Ene-Choo Tan, X.F. Colin C. Wong, John E.A. Common
Publikováno v:
American Journal of Medical Genetics Part A. 185:625-630
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0abda5af056a857f2eae2da009abfc04
https://doi.org/10.1002/ajmg.a.61975
https://doi.org/10.1002/ajmg.a.61975