Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities

N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Design principles of insect and vertebrate visual systems

JR Sanes, SL Zipursky - Neuron, 2010 - cell.com
A century ago, Cajal noted striking similarities between the neural circuits that underlie
vision in vertebrates and flies. Over the past few decades, structural and functional studies …

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina

A Swaroop, D Kim, D Forrest - Nature Reviews Neuroscience, 2010 - nature.com
In the developing vertebrate retina, diverse neuronal subtypes originate from multipotent
progenitors in a conserved order and are integrated into an intricate laminated architecture …

Chronic circadian disruption modulates breast cancer stemness and immune microenvironment to drive metastasis in mice

E Hadadi, W Taylor, XM Li, Y Aslan, M Villote… - Nature …, 2020 - nature.com
Breast cancer is the most common type of cancer worldwide and one of the major causes of
cancer death in women. Epidemiological studies have established a link between night-shift …

[HTML][HTML] X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms

RS Molday, U Kellner, BHF Weber - Progress in retinal and eye research, 2012 - Elsevier
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular
degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal …

Patterning and development of photoreceptors in the human retina

KA Hussey, SE Hadyniak… - Frontiers in cell and …, 2022 - frontiersin.org
Humans rely on visual cues to navigate the world around them. Vision begins with the
detection of light by photoreceptor cells in the retina, a light-sensitive tissue located at the …

In situ gene therapy via AAV-CRISPR-Cas9-mediated targeted gene regulation

AM Moreno, X Fu, J Zhu, D Katrekar, YRV Shih… - Molecular Therapy, 2018 - cell.com
Development of efficacious in vivo delivery platforms for CRISPR-Cas9-based epigenome
engineering will be critical to enable the ability to target human diseases without permanent …

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 …

B Chang, H Khanna, N Hawes, D Jimeno… - Human molecular …, 2006 - academic.oup.com
Centrosome-and cilia-associated proteins play crucial roles in establishing polarity and
regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional …

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak… - Nature …, 2005 - nature.com
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children,,. Identification of four genes mutated in NPHP subtypes 1–4 (refs.–) has linked the …

Photoreceptor cell fate specification in vertebrates

JA Brzezinski, TA Reh - Development, 2015 - journals.biologists.com
Photoreceptors–the light-sensitive cells in the vertebrate retina–have been extremely well-
characterized with regards to their biochemistry, cell biology and physiology. They therefore …