Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Jacoline B. ten Brink"'
Autor:
Sara Risseeuw, MD, PhD, Matthew G. Pilgrim, PhD, Sergio Bertazzo, PhD, Connor N. Brown, PhD, Lajos Csincsik, PhD, Sarah Fearn, PhD, Richard B. Thompson, PhD, Arthur A. Bergen, PhD, Jacoline B. ten Brink, BAS, Elod Kortvely, PhD, Wilko Spiering, MD, PhD, Jeannette Ossewaarde–van Norel, MD, PhD, Redmer van Leeuwen, MD, PhD, Imre Lengyel, PhD
Publikováno v:
Ophthalmology Science, Vol 4, Iss 2, Pp 100416- (2024)
Purpose: To investigate the histology of Bruch’s membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design: Experimental study with clinicopathological correlation. Subjects and Controls: S
Externí odkaz:
https://doaj.org/article/65e33ea1989f44e58acf0137600ec7ab
Autor:
Andrea Heredero Berzal, Ellie L. Wagstaff, Anneloor L. M. A. ten Asbroek, Jacoline B. ten Brink, Arthur A. Bergen, Camiel J. F. Boon
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1444 (2024)
Within the last decade, a wide variety of protocols have emerged for the generation of retinal organoids. A subset of studies have compared protocols based on stem cell source, the physical features of the microenvironment, and both internal and exte
Externí odkaz:
https://doaj.org/article/8296fe8aacce410a89954f9c2957da30
Autor:
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-20 (2021)
Abstract Background To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG), we used genotype data of POAG individuals and healthy controls from two case-control studie
Externí odkaz:
https://doaj.org/article/89db732c786f4bda997d42f26f1da698
Autor:
Philip E. Wagstaff, Anneloor L. M. A. ten Asbroek, Jacoline B. ten Brink, Nomdo M. Jansonius, Arthur A. B. Bergen
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
Abstract Genetically complex ocular neuropathies, such as glaucoma, are a major cause of visual impairment worldwide. There is a growing need to generate suitable human representative in vitro and in vivo models, as there is no effective treatment av
Externí odkaz:
https://doaj.org/article/9f613427ee484beea800df072f76ad62
Autor:
Valeria Lo Faro, Ilja M. Nolte, Jacoline B. Ten Brink, Harold Snieder, Nomdo M. Jansonius, Arthur A. Bergen, Lifelines Cohort Study
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The susceptibility of the optic nerve to damage has been shown to be mediated by m
Externí odkaz:
https://doaj.org/article/a2d49cc5d6ec4e3e9fa4524d5b2c9765
Autor:
Céline Koster, Koen T. van den Hurk, Jacoline B. ten Brink, Colby F. Lewallen, Boris V. Stanzel, Kapil Bharti, Arthur A. Bergen
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 6, p 2918 (2022)
Purpose: The lack of suitable animal models for (dry) age-related macular degeneration (AMD) has hampered therapeutic research into the disease, so far. In this study, pigmented rats and mice were systematically injected with various doses of sodium
Externí odkaz:
https://doaj.org/article/6dbb73f8bfe9474a82b1249c21ab2f56
Autor:
Céline Koster, Koen T. van den Hurk, Colby F. Lewallen, Mays Talib, Jacoline B. ten Brink, Camiel J. F. Boon, Arthur A. Bergen
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 7234 (2021)
Purpose: We developed and phenotyped a pigmented knockout rat model for lecithin retinol acyltransferase (LRAT) using CRISPR/Cas9. The introduced mutation (c.12delA) is based on a patient group harboring a homologous homozygous frameshift mutation in
Externí odkaz:
https://doaj.org/article/1c96926a078047bb8393157f0583eab5
Autor:
Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6419 (2021)
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility
Externí odkaz:
https://doaj.org/article/55f2f711bc9c42209bd42a3775f1dbcb
Autor:
Cansu de Muijnck, Jacoline B. ten Brink, Arthur A. Bergen, Camiel J.F. Boon, Maria M. van Genderen
Publikováno v:
Survey of ophthalmology. 68(4):641-654
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current liter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e6f6b62eaff32ffe46488eaf14f149
http://www.scopus.com/inward/record.url?scp=85149660253&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85149660253&partnerID=8YFLogxK