Papers matching “retinal development” in Retinal Development and Disorders 20
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Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
3citations -
USH2A High-Capacity Adenoviral Vector Restores usherin, whirlin, and ADGRV1 in Photoreceptor Cells of Retinal Organoids2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Xuefei Lu, Aat A. Mulder, Elon H C van Dijk, Roman I. Koning, Manuel A.F.V. Gonçalves, +1 more
0citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
7citations -
Elevated Plasma Complement Factors in CRB1 -associated Inherited Retinal Dystrophies2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, +27 more
0citations -
The Gut Metabolism is altered in patients with CRB1 -associated inherited retinal degeneration2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Joke Helena de Boer, Sanne Hiddingh, Bram Gerritsen, Jutta Lintelmann, Alexander Cecil, +5 more
0citations -
Early alterations of RNA binding protein (RBP) homeostasis and ER stress-mediated autophagy triggers progressive retinal degeneration in the rd10 mouse model of retinitis pigmentosa (RP)2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Anand Goswami, Alfred Yamoah, Priyanka Tripathi, Haihong Guo, Leoni Scheive, Sandra Johnen, +2 more
0citations -
Loss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Andrew J. McDonald, Carmen Gallego, Charlotte A. Andriessen, Ioannis Moustakas, Aat A. Mulder, +4 more
0citations -
Retinal Proteomics of a Mouse Model of Dystroglycanopathies Points to a Role of KIAA1549 in Ocular Changes Observed in Patients2020 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mary Luz Uribe, José Martín‐Nieto, Cristina Quereda, Marcos Rubio‐Fernández, Jesús Cruces, George M. C. Janssen, +3 more
0citations -
Human brain organoids assemble functionally integrated bilateral optic vesicles2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Elke Gabriel, Walid Albanna, Giovanni Pasquini, Anand Ramani, Natasia Josipovic, Aruljothi Mariappan, +14 more
14citations -
Embryonic nutritional hyperglycemia decreases cell proliferation in the zebrafish retina2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Ismael Hernández‐Núñez, María Vivero-Lopez, Ana Quelle‐Regaldie, Willem J. DeGrip, Laura E. Sanchez, Ángel Concheiro, +3 more
0citations -
Evaluation of visual performance for RCS rats: A tailor-made OMR setup via DeepLabCut and Psychopy with a customized algorithm2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thomas Rüland, Sandra Krause, Michael Schoeneck, Nadim Jon Shah, Frank Ulrich Müller, Björn M. Kampa, +2 more
0citations -
Expanding the options for therapeutic exon skipping as a future treatment for USH2A -associated disease by 3D structural modeling of newly formed hybrid domains2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Lucija Malinar, Sanne Broekman, Daniel T. Rademaker, Anh Q Le, Theo A. Peters, Erik de Vrieze, +3 more
1citations -
Ongoing activation of visual cortex and superior colliculus in the rd10 mouse model of retinitis pigmentosa2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thomas Rüland, Kerstin Doerenkamp, Peter Severin Graff, Sophie Wetz, Anoushka Jain, Gerion Nabbefeld, +6 more
3citations -
Gene Supplementation of MYO7A or activation of Myo7b for treatment of Usher syndrome 1B2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
David Manuel Mittas, Dina Yehia Otify, Zoran Gavrilov, Thomas Heigl, Jan Suchomski, Paulina Deltuvaite, +27 more
0citations -
Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA42022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
1citations -
Neural extracellular matrix regulates visual sensory motor integration2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jacqueline Reinhard, Cornelius Mueller-Buehl, Susanne Wiemann, Lars Roll, Veronika Luft, Hamed Shabani, +6 more
2citations -
Submicromolar copper (II) ions stimulate transretinal signaling in the isolated retina from wild type but not from Cav2.3-deficient mice2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Toni Schneider, Jan Niklas Lüke, Felix Neumaier, Serdar Alpdogan, Jürgen Hescheler, Walid Albanna, +1 more
0citations -
Submicromolar copper (II) ions stimulate transretinal signaling in the isolated retina from wild type but not fromCav2.3-deficient mice2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jan Niklas Lüke, Felix Neumaier, Serdar Alpdogan, Jürgen Hescheler, Toni Schneider, Walid Albanna, +1 more
0citations -
Submicromolar copper (II) ions stimulate transretinal signaling in the isolated retina from wild type but not from Cav2.3-deficient mice2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jan Niklas Lüke, Felix Neumaier, Serdar Alpdogan, Jürgen Hescheler, Toni Schneider, Walid Albanna, +1 more
0citations -
Oculocutaneous albinism type 7: Overlap and differences with other types of non-syndromic albinism2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
CC Kruijt, GC de Wit, Helena Maria van Minderhout, NE Schalij‐Delfos, MM van Genderen
0citations
20 results