Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Silke Feil"'
Autor:
David Atac, Kevin Maggi, Silke Feil, Jordi Maggi, Elisa Cuevas, Jane C. Sowden, Samuel Koller, Wolfgang Berger
Publikováno v:
Cells, Vol 13, Iss 13, p 1142 (2024)
The proneural transcription factor atonal basic helix–loop–helix transcription factor 7 (ATOH7) is expressed in early progenitors in the developing neuroretina. In vertebrates, this is crucial for the development of retinal ganglion cells (RGCs),
Externí odkaz:
https://doaj.org/article/e455fd37ba5e41c2a0ffbef85d36e9cf
Autor:
Jordi Maggi, Samuel Koller, Silke Feil, Ruxandra Bachmann-Gagescu, Christina Gerth-Kahlert, Wolfgang Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6540 (2024)
The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal diseases (IRDs) who remained undiagnosed after whole exome sequencing (WES). WGS was performed for index patients
Externí odkaz:
https://doaj.org/article/dfb3cfccddc34e1095068bb8f1d99ac7
Autor:
Flora Delas, Samuel Koller, Silke Feil, Ivanka Dacheva, Christina Gerth-Kahlert, Wolfgang Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16594 (2023)
Congenital cataract (CC), the most prevalent cause of childhood blindness and amblyopia, necessitates prompt and precise genetic diagnosis. The objective of this study is to identify the underlying genetic cause in a Swiss patient with isolated CC. W
Externí odkaz:
https://doaj.org/article/faeae7d4ba114d588122b2bfbcf8b60a
Autor:
Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berger
Publikováno v:
Genes, Vol 14, Iss 4, p 934 (2023)
X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is one of the most severe forms of RP due to its early onset and intractable progression. Most cases have been associated with genetic variants within the purine-rich exon ORF1
Externí odkaz:
https://doaj.org/article/c0d5ad86b54f4454bd5186cc0435cf16
Autor:
Hongryeol Park, Hiroyuki Yamamoto, Lucas Mohn, Lea Ambühl, Kenichi Kanai, Inga Schmidt, Kee-Pyo Kim, Alessia Fraccaroli, Silke Feil, Harald J. Junge, Eloi Montanez, Wolfgang Berger, Ralf H. Adams
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Integrin-linked kinase (ILK) is an important mediator of integrin signaling. Here Park et al. show that mice with endothelial-specific deletion of Ilk develop vascular defects that resemble familial exudative vitreoretinopathy, and identify mutations
Externí odkaz:
https://doaj.org/article/584556069c6146ea98a94e8f212f9037
Autor:
David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1053 (2022)
Basic helix–loop–helix (bHLH) transcription factors are evolutionarily conserved and structurally similar proteins important in development. The temporospatial expression of atonal bHLH transcription factor 7 (ATOH7) directs the differentiation o
Externí odkaz:
https://doaj.org/article/69a4175b9d494a97992f9d85c8daf3f9
Autor:
Jordi Maggi, Samuel Koller, Luzy Bähr, Silke Feil, Fatma Kivrak Pfiffner, James V. M. Hanson, Alessandro Maspoli, Christina Gerth-Kahlert, Wolfgang Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1508 (2021)
The purpose of this study was to develop a flexible, cost-efficient, next-generation sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction (PCR) amplicons of up to 20 kb in size were designed to amplify entire genomic re
Externí odkaz:
https://doaj.org/article/648b886a59fa462db19ed9014a452d98
Autor:
Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert, Wolfgang Berger
Publikováno v:
Genes, Vol 12, Iss 1, p 65 (2021)
Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. Molecular diagnosis is challenging as the genes associated to date with C/M account for only a small percentage of cases. Overa
Externí odkaz:
https://doaj.org/article/a399b538c9d1407ca6fb4c3d7466b0d2
Autor:
Kee-Pyo Kim, Wolfgang Berger, Ralf H. Adams, Kenichi Kanai, Hongryeol Park, Lea Ambühl, Hiroyuki Yamamoto, Harald J. Junge, Alessia Fraccaroli, Inga Schmidt, Lucas Mohn, Eloi Montanez, Silke Feil
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, 10 (1)
Nature Communications
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, 10 (1)
Nature Communications
Familial exudative vitreoretinopathy (FEVR) is a human disease characterized by defective retinal angiogenesis and associated complications that can result in vision loss. Defective Wnt/β-catenin signaling is an established cause of FEVR, whereas ot
Autor:
Sandra P. Toelle, Laura Gogoll, Aude-Annick Suter, Christina Gerth-Kahlert, Wolfgang Berger, Markus Zweier, Elena Lang, Cordula Haas, Delia Rechsteiner, Raimund Kottke, Samuel Koller, Christoph M. Rüegger, Katharina Steindl, Silke Feil, Noemi Zweifel, Pascal Joset, Luzy Bähr, Lydia S. Issler
Publikováno v:
JAMA Ophthalmol
IMPORTANCE: Identification of geographic population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies. OBJECTIVE: To report disease-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b8eb96952c44610e745506ed85d5bc
https://doi.org/10.5167/uzh-203465
https://doi.org/10.5167/uzh-203465